Mutagenetix > Incidental Mutation

Incidental Mutation 'R1448:Dmd'

159090

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

039503-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R1448 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

81992476-84249747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83892306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2990 (D2990G)

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: D2990G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: D2990G

Domain	Start	End	E-Value	Type
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

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	A	7: 107,223,952 (GRCm39)		probably benign	Het
A1cf	A	T	19: 31,886,196 (GRCm39)	N35I	possibly damaging	Het
Abca2	T	C	2: 25,330,542 (GRCm39)	I1106T	possibly damaging	Het
Abca4	G	A	3: 121,956,577 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,581,632 (GRCm39)	D4804G	probably benign	Het
Adk	T	A	14: 21,102,708 (GRCm39)	M1K	probably null	Het
Aff3	T	C	1: 38,230,364 (GRCm39)	N1006D	probably damaging	Het
Akap12	A	G	10: 4,305,475 (GRCm39)	T762A	probably benign	Het
Atosa	C	G	9: 74,917,456 (GRCm39)	S685*	probably null	Het
Atp12a	T	A	14: 56,623,296 (GRCm39)	M843K	probably damaging	Het
Bbx	T	A	16: 50,086,633 (GRCm39)	K169*	probably null	Het
Bicra	A	T	7: 15,722,284 (GRCm39)	V411E	possibly damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Cel	T	C	2: 28,446,338 (GRCm39)	Y511C	probably damaging	Het
Celf4	G	T	18: 25,636,140 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,436,646 (GRCm39)	N310S	probably benign	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Cwc22	T	A	2: 77,741,899 (GRCm39)	E470D	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Cytip	A	G	2: 58,035,192 (GRCm39)	I168T	probably damaging	Het
D5Ertd579e	A	G	5: 36,760,083 (GRCm39)	L1359P	probably benign	Het
Ddx25	A	C	9: 35,469,034 (GRCm39)	V26G	probably benign	Het
Dennd4a	T	A	9: 64,813,327 (GRCm39)	S1429T	possibly damaging	Het
Dop1a	C	A	9: 86,424,785 (GRCm39)		probably null	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fabp6	T	A	11: 43,486,992 (GRCm39)	I112F	probably benign	Het
Fbxw10	T	C	11: 62,738,418 (GRCm39)	V104A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Grin3a	T	C	4: 49,702,804 (GRCm39)	Y894C	probably damaging	Het
Hydin	C	T	8: 111,173,217 (GRCm39)	H967Y	probably benign	Het
Ip6k3	T	C	17: 27,364,242 (GRCm39)	K269E	possibly damaging	Het
Jup	T	C	11: 100,274,026 (GRCm39)	K172E	probably damaging	Het
Katnal1	T	C	5: 148,841,486 (GRCm39)	D126G	probably benign	Het
Knl1	A	T	2: 118,898,788 (GRCm39)	K163M	probably damaging	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lct	T	A	1: 128,235,559 (GRCm39)	I483F	probably damaging	Het
Loxl2	G	A	14: 69,930,489 (GRCm39)	G751D	probably damaging	Het
Ltbp4	G	A	7: 27,006,002 (GRCm39)	R1559C	possibly damaging	Het
Man2c1	T	A	9: 57,042,503 (GRCm39)	D183E	probably benign	Het
Med17	T	C	9: 15,187,139 (GRCm39)		probably null	Het
Mrgpra9	A	C	7: 46,885,561 (GRCm39)	S34R	probably benign	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Nat8f1	A	G	6: 85,887,924 (GRCm39)	V12A	probably benign	Het
Nr2e3	C	A	9: 59,850,797 (GRCm39)	G354V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup155	T	C	15: 8,141,890 (GRCm39)	V94A	probably benign	Het
Or14a256	A	T	7: 86,265,569 (GRCm39)	C95S	probably damaging	Het
Or52h2	C	T	7: 103,839,082 (GRCm39)	V111I	possibly damaging	Het
Or5p76	T	C	7: 108,122,525 (GRCm39)	I211V	probably benign	Het
Or9q2	A	T	19: 13,772,140 (GRCm39)	Y278*	probably null	Het
Pcdhb10	A	T	18: 37,545,556 (GRCm39)	I211F	possibly damaging	Het
Phip	A	C	9: 82,797,476 (GRCm39)	I509S	possibly damaging	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psme4	T	G	11: 30,802,744 (GRCm39)	L1487R	probably damaging	Het
Ptgdr2	A	G	19: 10,917,857 (GRCm39)	S125G	probably damaging	Het
Ptpro	A	G	6: 137,418,114 (GRCm39)	K126E	probably damaging	Het
Rdh16f2	T	A	10: 127,712,794 (GRCm39)	V264E	probably benign	Het
Ric8b	C	T	10: 84,783,535 (GRCm39)	A131V	possibly damaging	Het
Rock1	A	T	18: 10,070,233 (GRCm39)	I1280N	probably damaging	Het
Rprd2	A	G	3: 95,725,888 (GRCm39)	V59A	possibly damaging	Het
Ruvbl1	T	A	6: 88,444,551 (GRCm39)	C49S	probably benign	Het
Scn2a	A	G	2: 65,514,189 (GRCm39)	N291S	probably benign	Het
Serbp1	T	A	6: 67,254,904 (GRCm39)	H325Q	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Shisal2b	T	C	13: 104,982,470 (GRCm39)	I151V	probably benign	Het
Slitrk3	G	A	3: 72,957,674 (GRCm39)	T366I	probably damaging	Het
Spryd3	A	T	15: 102,026,827 (GRCm39)	H307Q	possibly damaging	Het
Spx	A	T	6: 142,364,239 (GRCm39)	D100V	probably benign	Het
Surf4	A	G	2: 26,814,476 (GRCm39)	F142L	probably damaging	Het
Syne2	T	A	12: 76,067,099 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,952 (GRCm39)	M5278T	possibly damaging	Het
Thap12	T	C	7: 98,365,230 (GRCm39)	V466A	probably benign	Het
Thap3	T	C	4: 152,067,673 (GRCm39)	K135R	possibly damaging	Het
Tmem131	G	T	1: 36,866,439 (GRCm39)	D448E	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Trim43a	G	T	9: 88,464,146 (GRCm39)	C19F	probably damaging	Het
Trp63	C	T	16: 25,707,870 (GRCm39)	P526L	possibly damaging	Het
Ubqln3	T	C	7: 103,791,997 (GRCm39)	D31G	probably damaging	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Vmn1r40	A	G	6: 89,691,558 (GRCm39)	K125R	probably damaging	Het
Vmn2r1	A	G	3: 64,008,734 (GRCm39)	Y471C	probably damaging	Het
Vmn2r13	A	G	5: 109,322,001 (GRCm39)	I232T	probably damaging	Het
Zfp263	A	C	16: 3,564,323 (GRCm39)	E204D	probably benign	Het
Zfp865	A	T	7: 5,032,278 (GRCm39)	K88*	probably null	Het

Other mutations in Dmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GTACCTTCTAATGTCCTTGCCAGAGTG -3'
(R):5'- AGCAACAGCACAAATGAATTGTCTGC -3'

Sequencing Primer
(F):5'- CCAGAGTGCTTACAGTTTATGC -3'
(R):5'- ccacctgaacatctgacttcc -3'

Posted On

2014-03-14