Incidental Mutation 'R1955:Dmd'
ID 217741
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 039969-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R1955 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 81992476-84249747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82922163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1478 (M1478L)
Ref Sequence ENSEMBL: ENSMUSP00000109633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114000]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000114000
AA Change: M1478L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: M1478L

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: ENSMUST00000141778
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,202,400 (GRCm39) K128N probably benign Het
Acadm A C 3: 153,635,188 (GRCm39) F309V probably damaging Het
Adam6b C A 12: 113,455,436 (GRCm39) A751E probably benign Het
Adcy9 A G 16: 4,236,523 (GRCm39) I296T possibly damaging Het
Arhgap45 A G 10: 79,862,326 (GRCm39) E471G probably benign Het
Atcay T C 10: 81,050,627 (GRCm39) D96G possibly damaging Het
B3galt4 T A 17: 34,169,606 (GRCm39) R211* probably null Het
Bpi T C 2: 158,116,635 (GRCm39) I344T probably damaging Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cd207 T A 6: 83,648,757 (GRCm39) R302W probably benign Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Chaf1a C T 17: 56,354,540 (GRCm39) T270I unknown Het
Col4a1 C T 8: 11,258,228 (GRCm39) probably null Het
Col7a1 G T 9: 108,784,732 (GRCm39) V187L unknown Het
Cry1 G A 10: 84,980,042 (GRCm39) T422I probably benign Het
Csgalnact1 C T 8: 68,825,319 (GRCm39) V392I probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Ddx20 G A 3: 105,586,878 (GRCm39) T489M possibly damaging Het
Decr1 A T 4: 15,924,256 (GRCm39) N221K probably benign Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dgka A G 10: 128,566,058 (GRCm39) probably null Het
Dvl1 G A 4: 155,942,486 (GRCm39) R584Q possibly damaging Het
Dync1li1 A T 9: 114,550,814 (GRCm39) S450C probably damaging Het
Ehbp1l1 A G 19: 5,760,697 (GRCm39) V1558A possibly damaging Het
Esr1 T A 10: 4,807,125 (GRCm39) M347K probably damaging Het
F2 T A 2: 91,463,440 (GRCm39) H148L probably benign Het
Fezf2 T C 14: 12,342,644 (GRCm38) N407S probably benign Het
Fscn3 T A 6: 28,430,235 (GRCm39) M135K possibly damaging Het
Ganab T G 19: 8,888,980 (GRCm39) Y560* probably null Het
Garem2 T C 5: 30,313,268 (GRCm39) V44A probably benign Het
Gja4 A G 4: 127,206,242 (GRCm39) W174R probably damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Gm43517 A G 12: 49,436,672 (GRCm39) probably benign Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Kifc5b T A 17: 27,145,271 (GRCm39) probably null Het
Kmt2b A T 7: 30,274,776 (GRCm39) M1976K possibly damaging Het
Leng1 A T 7: 3,668,415 (GRCm39) V11D probably damaging Het
Lrit3 A G 3: 129,594,130 (GRCm39) V149A probably benign Het
Lrpap1 A G 5: 35,259,756 (GRCm39) L114P probably damaging Het
Marveld3 T A 8: 110,686,380 (GRCm39) D162V probably benign Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Myo7a A T 7: 97,704,128 (GRCm39) V1928D probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Nexmif A G X: 103,127,559 (GRCm39) S1453P possibly damaging Het
Nudt16l1 A G 16: 4,758,189 (GRCm39) M182V probably benign Het
Obp2b A T 2: 25,628,563 (GRCm39) I106L probably benign Het
Or10ag59 T A 2: 87,406,349 (GRCm39) L307Q probably damaging Het
Or4a2 T A 2: 89,248,755 (GRCm39) M1L probably damaging Het
Or5h18 T A 16: 58,847,774 (GRCm39) R165S probably damaging Het
Or8b43 T C 9: 38,360,984 (GRCm39) I272T probably benign Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Pde7a G A 3: 19,281,963 (GRCm39) A429V probably damaging Het
Pkd1l2 T A 8: 117,770,100 (GRCm39) M1119L probably benign Het
Plch1 C T 3: 63,662,688 (GRCm39) V272I probably damaging Het
Plekha4 G A 7: 45,203,330 (GRCm39) G740D probably damaging Het
Pnliprp1 A G 19: 58,723,404 (GRCm39) D265G possibly damaging Het
Pola1 A C X: 92,640,867 (GRCm39) V384G probably damaging Het
Pon3 T A 6: 5,230,774 (GRCm39) D251V probably benign Het
Pot1b A G 17: 55,981,067 (GRCm39) C316R possibly damaging Het
Prkaca T A 8: 84,714,946 (GRCm39) V116E probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Rasgef1c A G 11: 49,866,542 (GRCm39) H382R possibly damaging Het
Rlig1 A G 10: 100,413,166 (GRCm39) V91A probably damaging Het
Rps25 C T 9: 44,321,305 (GRCm39) T113I probably benign Het
Serpinb1b G T 13: 33,269,422 (GRCm39) A52S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Siah2 C T 3: 58,583,518 (GRCm39) R256Q probably damaging Het
Slc24a2 A G 4: 86,991,481 (GRCm39) L404P probably damaging Het
Slc28a2 G A 2: 122,278,347 (GRCm39) C122Y probably benign Het
Slc4a8 T C 15: 100,705,257 (GRCm39) I821T probably damaging Het
Slc5a3 T C 16: 91,874,762 (GRCm39) V273A possibly damaging Het
Spag7 T C 11: 70,555,844 (GRCm39) Q61R probably benign Het
Syt7 A T 19: 10,395,402 (GRCm39) I71F probably damaging Het
Tars2 T C 3: 95,654,766 (GRCm39) N413S probably damaging Het
Tex14 T A 11: 87,400,447 (GRCm39) L413Q probably damaging Het
Tjp3 T C 10: 81,113,833 (GRCm39) E475G probably damaging Het
Tmem131l A G 3: 83,868,851 (GRCm39) S175P probably damaging Het
Tmem144 C T 3: 79,734,164 (GRCm39) V180M probably benign Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmprss11g T A 5: 86,646,391 (GRCm39) I59F probably damaging Het
Tmprss2 T A 16: 97,368,377 (GRCm39) probably null Het
Tor1aip2 T A 1: 155,927,588 (GRCm39) probably benign Het
Trim61 T C 8: 65,466,044 (GRCm39) I406V possibly damaging Het
Trpv5 T C 6: 41,634,871 (GRCm39) D486G probably damaging Het
Try5 T C 6: 41,288,703 (GRCm39) E64G probably benign Het
Txlnb A G 10: 17,675,168 (GRCm39) E107G probably damaging Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Ugt2b1 T C 5: 87,065,572 (GRCm39) Y489C probably damaging Het
Ugt2b5 T A 5: 87,275,631 (GRCm39) M407L probably benign Het
Vmn1r191 A T 13: 22,362,985 (GRCm39) S256R possibly damaging Het
Vps13b T G 15: 35,925,554 (GRCm39) probably null Het
Vps13d A G 4: 144,882,713 (GRCm39) F960S probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Xaf1 A T 11: 72,197,432 (GRCm39) D136V possibly damaging Het
Zan A G 5: 137,387,545 (GRCm39) S4889P unknown Het
Zfp78 A G 7: 6,381,558 (GRCm39) T203A probably benign Het
Zfp821 T C 8: 110,447,874 (GRCm39) S72P 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
R1953:Dmd UTSW X 82,874,123 (GRCm39) missense probably damaging 1.00
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'- AGATAAGTTAAGATACGACTGCTTAGT -3'
(R):5'- CCTAAAATGCCACCAAATGACTATTA -3'

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