Incidental Mutation 'IGL02610:Dmd'
ID 300445
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 # IGL02610
Quality Score
Status
Chromosome X
Chromosomal Location 81992476-84249747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82707762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 359 (S359P)
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: S359P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: S359P

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: ENSMUST00000147740
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Ccdc93 T G 1: 121,420,700 (GRCm39) V527G probably benign Het
Ctcfl C A 2: 172,947,819 (GRCm39) probably benign Het
Drc3 T C 11: 60,261,419 (GRCm39) F190S probably benign Het
Dync1h1 A T 12: 110,625,666 (GRCm39) K3943* probably null Het
Dzip3 A G 16: 48,772,016 (GRCm39) V551A probably damaging Het
Ep300 T A 15: 81,485,723 (GRCm39) L237M unknown Het
Gab1 A G 8: 81,526,728 (GRCm39) probably null Het
Gm6430 G A 1: 96,952,560 (GRCm39) noncoding transcript Het
Ighv16-1 A T 12: 114,032,733 (GRCm39) V23E probably damaging Het
Ikbkb T A 8: 23,165,088 (GRCm39) probably null Het
Ncr1 A T 7: 4,341,132 (GRCm39) N41I probably benign Het
Nfkbib T C 7: 28,459,274 (GRCm39) D319G probably damaging Het
Nkain3 T C 4: 20,469,459 (GRCm39) E85G probably damaging Het
Or51h1 G A 7: 102,308,774 (GRCm39) V249M probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Ppp2r2b A G 18: 42,781,840 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhod A G 19: 4,476,203 (GRCm39) F183L probably damaging Het
Slc35f3 A T 8: 127,047,956 (GRCm39) T99S probably damaging Het
Spata31e4 T C 13: 50,855,748 (GRCm39) V462A possibly damaging Het
Spock3 A G 8: 63,798,771 (GRCm39) Y264C probably damaging Het
Trnt1 T C 6: 106,755,779 (GRCm39) F278S possibly damaging Het
Ush2a T A 1: 188,176,663 (GRCm39) Y1276N probably damaging Het
Veph1 A G 3: 66,079,588 (GRCm39) L309P probably damaging Het
Vmn1r7 G T 6: 57,002,037 (GRCm39) F74L probably benign Het
Vsnl1 C T 12: 11,382,072 (GRCm39) W103* probably null 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
IGL02426:Dmd APN X 83,892,342 (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