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Gene ENSMUSG00000036622 (Atp13a2)
Chromosomal location
Chr 4: 140542809 - 140563242 (+)
Description
ATPase type 13A2 Gene [Source:MGI (curated);Acc:Atp13a2-001]
RefSeq_dna
NM_029097 
RefSeq_peptide
NP_083373.1 
UniGene
Mm.416212 
MGI
MGI:1922022 
Uniprot/SWISSPROT
Q9CTG6 
Uniprot/SPTREMBL
A2AA78 Q8CIJ9 
Human Ortholog
ENSG00000159363 (ATP13A2)
Omim 606693 - KUFOR-RAKEB SYNDROME  
UniTrap UNI27551
Vector Insertion
Chr 4: 140542992 - 140548046
Public Clones not available
Private Clones OST57014 (lexicon)
Severity of mutation (?) Insertion after 0% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000037055
Sequence
GACGGCCGCAGACTGCGGCACAGTTCCAGTCGCCGTCGCGTCTTGCAGGTGCTGCCCAGCCCGGCCCCTCCGCGGATCGCCGCAACCGGCGCCCCCCGAC

CGTGCCCCGGGGCCTCGCACGCCGAGCCCAGGCCGCGGGCCACAGCGGCCGGCGATGAGCGCGAGGAGCCGAAATGAGCGCAG - UNI27551 - ACA

GCAGCCTGCTCATGGGCAGCACGCCCCCCAGCTATGGGACCCTGACGACAGGGACGTCAATCGATCCCCTCAGCTCCTCAGCTTCATCCGTG AGGCTCA

GCGGCTACTGTGGCAGTCCATGGAGGGCCATCGGCTATCACGCCGCGGTCTGGATGCTGGCCGGGATCCCTTGGCTGCTATTCCGCTGGAAGCCCTTGTG

GGGCGTGCGCCTGCGCCTGAAGCCATGCAGCCTGGCCCACGCCGAAACACTCGTTATAGAAATAAAAGACAAAGAG GGTAGCTCCAGACAGCTCTTCAC

GGTTCAGGTGCAGACTGAGGCTGTTGTTCAGGGCAG CCTGGAGCTGCCCCCACAGGCCCAGGCAGAGGATGGCCGGAGCCAGGCAGCCGTGGGAGTGAC

ACCAGAGGGCACATGGCAGGACACCTCCGAACTCCACAGGCAGGAAGAGGCA AAGCAGGTACTGCGCTATTATGTCCTCCAAGGTCAACGCTACGTCTG

GATGGAAACCCAGCAAGCCTTCTGCCAAGTCAG CCTGCTGGACCACGGTCGTACCTGTGATGACGTCCACTGCTCCAGCTCCGGCCTCAGCCTCCAGGA

CCAAGCTACGAG GAAGACCATTTACGGCCCCAACGTGATCAGTATTCCTGTCAAGTCCTACCTGCAGCTGCTGGCGGATGAG GCCCTGAATCCCTACT

ATGGGTTCCAAGCCTTCAGCATCGCACTGTGGCTGGCCGACCACTACTACTGGTATGCTCTCTGCATCTTCCTCATCTCAGCCATCTCCATCTGCCTGGC

TCTGTACAAGACCAGAAAG CAAAGCTTGACCTTGAGGGACATGGTCAAGCTGTCCGTGCGGGTGCAGGTGTGCCGACCCGGAGGAG AGGAAGAGTGGG

TGGACTCCAGTGAGCTGGTGCCCGGAGACTGCTTGGTGCTGCCCCAGGAGGGCGGGGTGATGCCATGCGACGCGGCTCTGGTGGCCGGGGAGTGTGTGGT

CAACGAGAGCTCCCTGACAG GGGAGAGCACCCCTGTGCTGAAGACGGCCCTGCCAGAGGGGCCCAAGCCCTACTGCCCAGAGACCCACCGGCGGCACAC

CCTCTTCTGTGGCACCCTCATTCTGCAGGCCCGAGCCTACGTGGGACCCCGTGTGCTAGCAGTGGTGACTCGGACAG GGTTCTGCACAGCCAAAGGGGG

CCTGGTGAGCTCCATCCTGCACCCAAGGCCCATCAGCTTCAAGTTCTACAAACACAGCATGAAGTTTGTGGCTGCGCTCTCCGTCCTGG CTCTGCTAGG

CACCGTCTACAGCATCATCATCCTCTACCGCAACCGG GTACCTGTGAGGGAGATTGTGATCCGAGCTCTGGACCTGGTGACGGTGGTGGTGCCGCCCGC

CCTGCCTGCCGCCATGACCGTGTGCACACTCTATGCCCAGAGTCGGCTGCGCACACAGGGCATCTTCTGCATCCACCCACTGCGCATCAACTTGGGGGGC

AAGCTGCGGCTCGTGTGCTTTGACAAG ACAGGCACCCTCACGGAGGACGGCTTGGACGTAATGGGCGTGGTGCCCCTAAAGGGGCAGGTGTTGCTGCCA

CTGGTCCCAGAGCCCTGCCACCTGCCCCTGGGGCCCCTCCTGCGAGCACTGGCCACCTGTCATGCCCTCAGCCAGCTACATGACACCCCGGTGGGCGACC

CCATGGATCTGAAGATGGTGGAGTCTACAGGCTGG GTCTTAGAGGAGGGTCCAGCTGCAGGCTCAGCACCTGGGAGCCAGGTCTTGGTGGTAATGAGAC

CCCCACCCGGGGGCCCTCGGCAGCAG GAAGAGCCACCAGTGCCAGTCAGCGTCCTCTGCCGCTTCCCCTTCTCCTCTGCCCTGCAGCGGATGGATGTGG

TAGTGACATGGCCAGGGGCCACCCAGCCTGAGGCCTACGTCAAAGGCTCCCCAGAGCTTGTGGCCAGCCTCTGCAGCCCCGAGACAG TACCCAGCGACT

TTTCTCAGGTGCTGCAGAGCTACACAGCTGCTGGCTACCGAGTTGTGGCCCTGGCTGGCAAGCCACTGCCCATTGCGCCCAGCCTTGCGGCCGCTCAGCA

GCTAACAAG GGATACTGTGGAGCGGGAACTGAGCCTCCTGGGGCTGCTGGTCATGCGGAACCTACTGAAGCCACAGACGGCCCCAGTTATCCAGACTCT

GAGGAAGACGGGCATCCGCACCGTTATGGTGACAG GGGACAACCTGCAGACAGCAGTCACCGTGGCCAGAGCTTGTGGCATGGTGGGCGCCCAGGAGCA

CCTGGCTGTCATCCATGCCACCCACCCCGAGCAGGGCCAGCCTGCTGCCCTCGAGTTCCTGCCAACGGAGTCCTCTGCAGTCATGAACGGGGCGAAG GC

CACAGGCTATCCCACGGTGCCGGAACCCCAGTCCTGTCACCTGGCCCTCAGCGGGTCCACGTTTGCAGTCCTTCGGAAGCACTTCCCCAAGCTGCTGCCC

AAG GTCCTGGTGCAGGCTACCGTCTTTGCCCGAATGGCCCCGGAGCAGAAGACAGAGCTAGTGTGCGAACTGCAGAGGCTTCA GTACTGTGTGGGCAT

GTGCGGGGATGGAGCCAACGACTGTGGGGCCCTGAAGGCGGCTGATGTGGGCATATCGCTGTCCCAGGCGGAGGCGTCAGTGGTCTCTCCGTTCACCTCC

AGCATGGCCAGTATTGAATGTGTGCCCACTGTCATCAG GGAAGGCCGCTGCTCCCTGGATACTTCATTCAGCGTCTTCAAGTACATGGCCCTCTACAGC

CTGACTCAGTTCATCTCTGTGCTCATTCTCTACACA ATCAACACCAACCTGGGAGACCTACAGTTCTTGGCCATTGACCTGGTCATCACCACCACGGTT

GCGGTGCTCATGAGCCGCACAGGCCCTGCACTGACCTTGGTGCGAGCGCGGCCGCCAGGGGCGCTGCTGAGTGTGCCTGTGCTTGGCAGTCTGCTGCTGC

AGGTGGCCTTGGTGGCCGGCATCCAGCTGGGGGGCTACTTTTTGGTCATAGCTCAGCCCTG GTTTGTGCCTCTGAACAGAACTGTGCCCGCTCCGGACA

ACCTGCCCAACTACGAGAATACGGTGGTCTTCTCTCTGTCTGGCTTCCAGTACCTCATCCTGGCCGCAGCGGTGTCTAAGGGGGCACCCTTCCGCCAGCC

ACTCTACACCAACG TGCCCTTCCTGGTGGCCCTGGCGCTCTTGGGCTCTGTCCTGGTGGGCCTCATCCTGGTCCCCGGCCTCCTGCAGGGGCCCCTAGG

ACTGAGGAACATTGTGGACAGCTCCTTCAAGCTACTGCTGCTGGGTCTGGTCGCCTTCAACTTCGTCGGCGCCTTTATGCTGGAG AGCGTGCTGGACCA

GTGTCTCCCAGCCTGCCTGCGGTGGCTGCGGCCTAAACGGGCCTCCAAGAAGCAATTCAAGCGGCTGCAACAGGAGCTTGCAGAACATCCATGGCCCACT

CTGCCCGTTGGCTCCGTGAGGTAGTGCAGGCCTTGGAGGGCATGCTGGACACTGGATCTCCCTGCCCCTGAGCCACGACTGGAACTCTCTCAAGAGACAG

TACCAGTCACCTCCCACAGCCCTGAAGCTGGCTGCTGTCACACTGCTGTCCGGACACACTCTCCTGGGGAAGTGCTGACTGCTGTCTCACTTTAGACCAT

CCTGTGTAGAGATAGCAGCTACCAACTCCATCCAGAGCTGCTGGCACTATAACAAATAAAGTGCTGGCTTTCC
Translation
MSAD - UNI27551 - DSSLLMGSTPPSYGTLTTGTSIDPLSSSASSV RLSGYCGSPWRAIGYHAAVWMLAGIPWLLFRWKPLWGVRLRLKPCSLAH

AETLVIEIKDKE GSSRQLFTVQVQTEAVVQGS SLELPPQAQAEDGRSQAAVGVTPEGTWQDTSELHRQEEA KQVLRYYVLQGQRYVWMETQQAFCQV

S SLLDHGRTCDDVHCSSSGLSLQDQATR RKTIYGPNVISIPVKSYLQLLADE ALNPYYGFQAFSIALWLADHYYWYALCIFLISAISICLALYKTRK

 QSLTLRDMVKLSVRVQVCRPGGE EEEWVDSSELVPGDCLVLPQEGGVMPCDAALVAGECVVNESSLTG GESTPVLKTALPEGPKPYCPETHRRHTLF

CGTLILQARAYVGPRVLAVVTRTG GFCTAKGGLVSSILHPRPISFKFYKHSMKFVAALSVLA ALLGTVYSIIILYRNR VPVREIVIRALDLVTVVVP

PALPAAMTVCTLYAQSRLRTQGIFCIHPLRINLGGKLRLVCFDK TGTLTEDGLDVMGVVPLKGQVLLPLVPEPCHLPLGPLLRALATCHALSQLHDTPV

GDPMDLKMVESTGW VLEEGPAAGSAPGSQVLVVMRPPPGGPRQQ EEPPVPVSVLCRFPFSSALQRMDVVVTWPGATQPEAYVKGSPELVASLCSPETV

 VPSDFSQVLQSYTAAGYRVVALAGKPLPIAPSLAAAQQLTR RDTVERELSLLGLLVMRNLLKPQTAPVIQTLRKTGIRTVMVTG GDNLQTAVTVARA

CGMVGAQEHLAVIHATHPEQGQPAALEFLPTESSAVMNGAK ATGYPTVPEPQSCHLALSGSTFAVLRKHFPKLLPK VLVQATVFARMAPEQKTELVCE

LQRLQ QYCVGMCGDGANDCGALKAADVGISLSQAEASVVSPFTSSMASIECVPTVIR REGRCSLDTSFSVFKYMALYSLTQFISVLILYT INTNLGD

LQFLAIDLVITTTVAVLMSRTGPALTLVRARPPGALLSVPVLGSLLLQVALVAGIQLGGYFLVIAQPW WFVPLNRTVPAPDNLPNYENTVVFSLSGFQY

LILAAAVSKGAPFRQPLYTNV VPFLVALALLGSVLVGLILVPGLLQGPLGLRNIVDSSFKLLLLGLVAFNFVGAFMLE SVLDQCLPACLRWLRPKRAS

KKQFKRLQQELAEHPWPTLPVGSVR

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