Incidental Mutation 'R1953:Dmd'
ID 217521
Institutional Source Beutler Lab
Gene Symbol Dmd
Ensembl Gene ENSMUSG00000045103
Gene Name dystrophin, muscular dystrophy
Synonyms Duchenne muscular dystrophy, pke, dys, Dp71, Dp427, X-linked muscular dystrophy, mdx
MMRRC Submission 039967-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R1953 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 81992476-84249747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82874123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1342 (I1342N)
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: I1342N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: I1342N

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
Meta Mutation Damage Score 0.3254 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,268,772 (GRCm39) D12E probably damaging Het
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Actr1a G A 19: 46,369,387 (GRCm39) S209F probably benign Het
Adcy1 A G 11: 7,028,991 (GRCm39) N247S probably benign Het
Anapc4 T C 5: 52,997,030 (GRCm39) L101S probably damaging Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Ascc3 T C 10: 50,721,726 (GRCm39) S2060P probably benign Het
Atp9b G A 18: 80,797,522 (GRCm39) T851I possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Bpifb9b A C 2: 154,153,234 (GRCm39) D100A probably damaging Het
Cant1 G C 11: 118,299,609 (GRCm39) P247A probably damaging Het
Capza3 A T 6: 139,988,294 (GRCm39) I298L possibly damaging Het
Cdh10 T C 15: 18,966,997 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,381 (GRCm39) V2551A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cmtr2 T C 8: 110,948,551 (GRCm39) L287P probably damaging Het
Crebbp G A 16: 3,997,313 (GRCm39) T257I probably benign Het
Crispld2 G A 8: 120,742,035 (GRCm39) V128M probably damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Dnah10 A G 5: 124,859,332 (GRCm39) T2043A probably benign Het
Dscaml1 C T 9: 45,581,522 (GRCm39) T447I probably benign Het
Eif2ak3 A G 6: 70,869,538 (GRCm39) T742A probably benign Het
Farp1 A G 14: 121,492,894 (GRCm39) T499A probably benign Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgd5 C A 6: 92,001,611 (GRCm39) H935Q probably benign Het
Fhl4 A T 10: 84,934,171 (GRCm39) D203E probably benign Het
Gapt T G 13: 110,490,340 (GRCm39) T108P probably damaging Het
Gpt2 A G 8: 86,248,013 (GRCm39) T419A probably benign Het
Gucy2c A G 6: 136,681,291 (GRCm39) V907A probably damaging Het
Hmbs T C 9: 44,248,741 (GRCm39) D211G probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itfg1 A G 8: 86,557,860 (GRCm39) V170A probably benign Het
Itga2b T A 11: 102,349,009 (GRCm39) T732S probably benign Het
Klhl3 A G 13: 58,159,022 (GRCm39) Y546H probably damaging Het
Lama5 G A 2: 179,832,540 (GRCm39) H1670Y possibly damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 T C 7: 108,524,325 (GRCm39) D385G probably benign Het
Nr2e3 T A 9: 59,857,079 (GRCm39) D30V probably benign Het
Nyap1 A G 5: 137,733,294 (GRCm39) S580P probably benign Het
Or4c108 G A 2: 88,804,224 (GRCm39) Q4* probably null Het
Or4c12 A G 2: 89,774,267 (GRCm39) L64P probably damaging Het
Or4e2 T A 14: 52,688,344 (GRCm39) V158E probably benign Het
Pex1 A G 5: 3,680,038 (GRCm39) H952R probably damaging Het
Plin4 T A 17: 56,410,849 (GRCm39) I1061F possibly damaging Het
Pnkp C A 7: 44,512,026 (GRCm39) R517S probably benign Het
Polr2e T A 10: 79,874,388 (GRCm39) E39D probably benign Het
Pramel18 T C 4: 101,767,312 (GRCm39) I187T probably benign Het
Prokr1 T C 6: 87,565,575 (GRCm39) Y90C probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rere G A 4: 150,701,294 (GRCm39) E1225K probably damaging Het
Rsl24d1 G T 9: 73,021,896 (GRCm39) probably benign Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Smad2 A G 18: 76,395,776 (GRCm39) T72A possibly damaging Het
Snx29 G A 16: 11,217,647 (GRCm39) W149* probably null Het
Stk31 G T 6: 49,423,412 (GRCm39) probably null Het
Sult1e1 T G 5: 87,735,530 (GRCm39) probably null Het
Syngap1 G A 17: 27,163,661 (GRCm39) R41H possibly damaging Het
Tbc1d17 T A 7: 44,490,822 (GRCm39) probably null Het
Tex55 G T 16: 38,648,275 (GRCm39) T278K possibly damaging Het
Tie1 A T 4: 118,329,987 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T A 7: 111,692,083 (GRCm39) D848E probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r124 T C 17: 18,283,122 (GRCm39) I272T probably benign Het
Vwa1 C T 4: 155,857,571 (GRCm39) V76M probably damaging Het
Xrn1 G T 9: 95,906,274 (GRCm39) probably null Het
Zfp667 G T 7: 6,308,087 (GRCm39) V252F probably benign Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCGAAAATGCAGAGATAACCC -3'
(R):5'- TTCACTTACTGCTGTAAAATCAGAC -3'

Sequencing Primer
(F):5'- TGTAAACAAGAAAATACTGAGCACTG -3'
(R):5'- GAGATTCCCCACTTATCATC -3'
Posted On 2014-08-01