Incidental Mutation 'IGL02426:Dmd'
ID 292923
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 # IGL02426
Quality Score
Status
Chromosome X
Chromosomal Location 81992476-84249747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83892342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 3002 (L3002H)
Ref Sequence ENSEMBL: ENSMUSP00000109633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114000]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114000
AA Change: L3002H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: L3002H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156107
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Socs5 G T 17: 87,442,320 (GRCm39) R420L probably damaging Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T probably 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
IGL01294:Dmd APN X 83,475,604 (GRCm39) splice site probably null
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 2015-04-16