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Gene ENSMUSG00000033788 (Dysf)
Chromosomal location
Chr 6: 83958584 - 84161054 (+)
Description
dysferlin Gene [Source:MGI (curated);Acc:Dysf-003]
RefSeq_dna
NM_021469 NM_001077694 
RefSeq_peptide
NP_067444.2 NP_001071162.1 
UniGene
Mm.220982 
MGI
MGI:1349385 
Uniprot/SWISSPROT
Q9ESD7 
Uniprot/SPTREMBL
Q7TQI2 Q80VT0 Q6KAR3 A0FLF1 
Human Ortholog
ENSG00000135636 (DYSF)
Omim 253601 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B  254130 - MIYOSHI MYOPATHY  606768 - MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET  
UniTrap UNI32662
Vector Insertion
Chr 6: 83958997 - 83969379
Public Clones IST11521C11 (tigm) IST14800C10 (tigm) IST10446D10 (tigm) IST12517F6 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 0% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI31721
Vector Insertion
Chr 6: 83969603 - 83987227
Public Clones IST12103A1 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 1% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI19067
Vector Insertion
Chr 6: 83989592 - 84008412
Public Clones IST11826A1BBF1 (tigm) IST14312D8 (tigm) IST11734E3 (tigm) IST10292F5 (tigm)
IST10986E12 (tigm) IST12281B10 (tigm) IST14965F12 (tigm) IST14790A10 (tigm)
IST14752B6 (tigm) IST10327D2 (tigm) IST11740B6 (tigm) IST14746D3 (tigm)
IST13056A1 (tigm) IST13079F5 (tigm) IST12681D5 (tigm) IST12144A3 (tigm)
IST11824B2 (tigm) IST14489D11 (tigm) IST14985H6 (tigm) IST14556C9 (tigm)
IST14971E8 (tigm) IST14013H10 (tigm) IST11367B12 (tigm) IST12670B5 (tigm)
Private Clones OST405671 (lexicon) OST319440 (lexicon) OST280969 (lexicon) OST248833 (lexicon)
OST218470 (lexicon) OST109691 (lexicon) OST37577 (lexicon) OST36145 (lexicon)
Severity of mutation (?) Insertion after 4% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI22027
Vector Insertion
Chr 6: 84008519 - 84013314
Public Clones not available
Private Clones OST311167 (lexicon) OST295952 (lexicon) OST232067 (lexicon) OST196610 (lexicon)
Severity of mutation (?) Insertion after 6% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI25245
Vector Insertion
Chr 6: 84013430 - 84014464
Public Clones not available
Private Clones OST190527 (lexicon) OST182818 (lexicon)
Severity of mutation (?) Insertion after 7% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI38052
Vector Insertion
Chr 6: 84102404 - 84129665
Public Clones (sanger)
Private Clones not available
Severity of mutation (?) Insertion after 70% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI33213
Vector Insertion
Chr 6: 84129765 - 84135951
Public Clones IST12898D2 (tigm) IST12611A12 (tigm) IST14684H9 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 72% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI28709
Vector Insertion
Chr 6: 84160786 - 84161054
Public Clones not available
Private Clones OST22887 (lexicon) OST12487 (lexicon)
Severity of mutation (?) Insertion after 99% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

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