Incidental Mutation 'IGL01294:Dmd'
ID 73037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmd
Ensembl Gene ENSMUSG00000045103
Gene Name dystrophin, muscular dystrophy
Synonyms Duchenne muscular dystrophy, pke, dys, Dp71, Dp427, X-linked muscular dystrophy, mdx
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # IGL01294
Quality Score
Status
Chromosome X
Chromosomal Location 81992476-84249747 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 83475604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114000]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000114000
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103

DomainStartEndE-ValueType
CH 17 117 5.94e-27 SMART
CH 136 235 3.83e-21 SMART
SPEC 344 448 7.39e-17 SMART
SPEC 453 557 6.49e-13 SMART
SPEC 564 668 9.73e-2 SMART
low complexity region 672 695 N/A INTRINSIC
SPEC 724 829 9.18e-13 SMART
SPEC 835 935 2.28e-1 SMART
SPEC 944 1046 9.34e-2 SMART
SPEC 1053 1155 7.99e-13 SMART
SPEC 1162 1264 7.52e-9 SMART
SPEC 1271 1368 5.53e-7 SMART
SPEC 1470 1569 7.29e-7 SMART
SPEC 1576 1677 8.29e-1 SMART
SPEC 1684 1781 1.82e-1 SMART
SPEC 1786 1875 3.48e0 SMART
SPEC 1882 1972 6.69e-2 SMART
SPEC 2000 2102 1.45e0 SMART
SPEC 2109 2209 6.15e-14 SMART
SPEC 2216 2317 8.9e-11 SMART
low complexity region 2325 2337 N/A INTRINSIC
low complexity region 2432 2444 N/A INTRINSIC
SPEC 2466 2569 1.65e-14 SMART
SPEC 2576 2678 1.2e-7 SMART
SPEC 2685 2794 9.84e-13 SMART
SPEC 2801 2923 8.38e-7 SMART
SPEC 2930 3032 1.21e-12 SMART
WW 3049 3081 1.36e-10 SMART
Pfam:EF-hand_2 3082 3200 1.7e-42 PFAM
Pfam:EF-hand_3 3204 3295 6.6e-41 PFAM
ZnF_ZZ 3300 3345 7.39e-18 SMART
coiled coil region 3488 3598 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations in this gene cause muscular dystrophy. Phenotypic variation has been observed in different backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,291 (GRCm39) S101T probably benign Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arglu1 G T 8: 8,733,739 (GRCm39) probably benign Het
Cacna2d2 T G 9: 107,391,280 (GRCm39) Y436D probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cpne8 G A 15: 90,385,648 (GRCm39) S460L probably damaging Het
Crat G A 2: 30,295,199 (GRCm39) A436V probably damaging Het
Emilin2 G T 17: 71,581,589 (GRCm39) A379E probably benign Het
Ercc2 A G 7: 19,124,342 (GRCm39) I445V probably benign Het
Evc2 T C 5: 37,504,854 (GRCm39) probably null Het
Filip1l A T 16: 57,392,711 (GRCm39) K1100* probably null Het
Gm4353 T A 7: 115,683,077 (GRCm39) D168V possibly damaging Het
Hsf4 G T 8: 106,002,289 (GRCm39) *417L probably null Het
Kmt2a A G 9: 44,731,594 (GRCm39) probably benign Het
Macroh2a1 A T 13: 56,222,113 (GRCm39) V346E probably damaging Het
Mpzl1 A G 1: 165,421,177 (GRCm39) S261P probably damaging Het
Mre11a T C 9: 14,742,211 (GRCm39) S621P probably damaging Het
Muc6 T C 7: 141,232,926 (GRCm39) Y934C probably damaging Het
Naip5 A G 13: 100,353,588 (GRCm39) S1224P probably damaging Het
Nwd1 A T 8: 73,438,373 (GRCm39) N1474Y probably damaging Het
Or2ag20 T C 7: 106,464,970 (GRCm39) L261S probably damaging Het
Ptbp2 A G 3: 119,541,461 (GRCm39) V192A probably damaging Het
Rfx2 T C 17: 57,090,657 (GRCm39) Y421C probably damaging Het
Sfmbt2 T A 2: 10,595,232 (GRCm39) probably benign Het
Slc4a10 A C 2: 62,083,653 (GRCm39) probably null Het
Slitrk6 T C 14: 110,987,506 (GRCm39) M734V probably benign Het
Tap1 T C 17: 34,413,019 (GRCm39) probably null Het
Tep1 A G 14: 51,067,114 (GRCm39) probably benign Het
Uba6 T A 5: 86,297,907 (GRCm39) I256L possibly damaging Het
Wnt3 A T 11: 103,699,140 (GRCm39) H82L possibly damaging Het
Other mutations in Dmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Dmd APN X 82,951,978 (GRCm39) splice site probably null
IGL00823:Dmd APN X 83,469,419 (GRCm39) splice site probably null
IGL01160:Dmd APN X 82,968,567 (GRCm39) missense probably damaging 1.00
IGL01285:Dmd APN X 84,153,590 (GRCm39) nonsense probably null
IGL02426:Dmd APN X 83,892,342 (GRCm39) missense probably damaging 1.00
IGL02610:Dmd APN X 82,707,762 (GRCm39) missense probably damaging 1.00
IGL02887:Dmd APN X 82,922,110 (GRCm39) missense probably benign 0.44
IGL03268:Dmd APN X 82,849,814 (GRCm39) missense probably damaging 0.98
IGL03301:Dmd APN X 82,952,120 (GRCm39) missense probably damaging 1.00
R0480:Dmd UTSW X 83,469,344 (GRCm39) missense probably benign 0.00
R0714:Dmd UTSW X 83,353,503 (GRCm39) missense probably benign 0.00
R1296:Dmd UTSW X 82,922,126 (GRCm39) missense probably damaging 1.00
R1448:Dmd UTSW X 83,892,306 (GRCm39) missense probably damaging 0.97
R1678:Dmd UTSW X 84,018,368 (GRCm39) missense probably benign 0.43
R1714:Dmd UTSW X 83,008,356 (GRCm39) missense probably benign 0.17
R1951:Dmd UTSW X 82,874,123 (GRCm39) missense probably damaging 1.00
R1952:Dmd UTSW X 82,874,123 (GRCm39) missense probably damaging 1.00
R1953:Dmd UTSW X 82,874,123 (GRCm39) missense probably damaging 1.00
R1955:Dmd UTSW X 82,922,163 (GRCm39) missense probably benign 0.10
R2072:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2073:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2074:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2075:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2118:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2119:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2120:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R2122:Dmd UTSW X 83,356,089 (GRCm39) missense probably benign 0.33
R4398:Dmd UTSW X 82,765,624 (GRCm39) missense probably benign 0.01
X0025:Dmd UTSW X 83,690,800 (GRCm39) missense probably benign
Z1088:Dmd UTSW X 83,619,366 (GRCm39) missense probably benign 0.05
Z1088:Dmd UTSW X 82,922,101 (GRCm39) missense possibly damaging 0.67
Z1176:Dmd UTSW X 82,922,090 (GRCm39) missense possibly damaging 0.90
Z1176:Dmd UTSW X 82,670,892 (GRCm39) missense probably damaging 1.00
Z1177:Dmd UTSW X 82,670,877 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07