Mutagenetix > Incidental Mutations

Incidental Mutation 'R1953:Dmd'

217521

Institutional Source

Beutler Lab

Gene Symbol

Dmd

Ensembl Gene

ENSMUSG00000045103

Gene Name

dystrophin, muscular dystrophy

Synonyms

Dp71, mdx, X-linked muscular dystrophy, Dp427, Duchenne muscular dystrophy, pke, dys

MMRRC Submission

039967-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R1953 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

82948870-85206141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83830517 bp

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]

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

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

Meta Mutation Damage Score

0.3254

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	T	16: 38,827,913	T278K	possibly damaging	Het
5730455P16Rik	A	T	11: 80,377,946	D12E	probably damaging	Het
Abca15	C	T	7: 120,361,432	R706C	probably damaging	Het
Actr1a	G	A	19: 46,380,948	S209F	probably benign	Het
Adcy1	A	G	11: 7,078,991	N247S	probably benign	Het
Anapc4	T	C	5: 52,839,688	L101S	probably damaging	Het
Asap3	C	T	4: 136,227,456	R60*	probably null	Het
Ascc3	T	C	10: 50,845,630	S2060P	probably benign	Het
Atp9b	G	A	18: 80,754,307	T851I	possibly damaging	Het
Borcs5	A	G	6: 134,710,267	H196R	unknown	Het
Bpifb9b	A	C	2: 154,311,314	D100A	probably damaging	Het
Cant1	G	C	11: 118,408,783	P247A	probably damaging	Het
Capza3	A	T	6: 140,042,568	I298L	possibly damaging	Het
Cdh10	T	C	15: 18,966,911		probably null	Het
Celsr3	T	C	9: 108,843,182	V2551A	probably benign	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cmtr2	T	C	8: 110,221,919	L287P	probably damaging	Het
Crebbp	G	A	16: 4,179,449	T257I	probably benign	Het
Crispld2	G	A	8: 120,015,296	V128M	probably damaging	Het
Crnkl1	G	A	2: 145,928,200	A241V	probably damaging	Het
Dnah10	A	G	5: 124,782,268	T2043A	probably benign	Het
Dscaml1	C	T	9: 45,670,224	T447I	probably benign	Het
Eif2ak3	A	G	6: 70,892,554	T742A	probably benign	Het
Farp1	A	G	14: 121,255,482	T499A	probably benign	Het
Fcgr1	G	A	3: 96,287,070	T167I	probably damaging	Het
Fgd5	C	A	6: 92,024,630	H935Q	probably benign	Het
Fhl4	A	T	10: 85,098,307	D203E	probably benign	Het
Gapt	T	G	13: 110,353,806	T108P	probably damaging	Het
Gm12800	T	C	4: 101,910,115	I187T	probably benign	Het
Gm13762	G	A	2: 88,973,880	Q4*	probably null	Het
Gpt2	A	G	8: 85,521,384	T419A	probably benign	Het
Gucy2c	A	G	6: 136,704,293	V907A	probably damaging	Het
Hmbs	T	C	9: 44,337,444	D211G	probably damaging	Het
Irx5	A	G	8: 92,359,810	N174D	probably damaging	Het
Itfg1	A	G	8: 85,831,231	V170A	probably benign	Het
Itga2b	T	A	11: 102,458,183	T732S	probably benign	Het
Klhl3	A	G	13: 58,011,208	Y546H	probably damaging	Het
Lama5	G	A	2: 180,190,747	H1670Y	possibly damaging	Het
Mlst8	AT	ATT	17: 24,478,013		probably null	Het
Nbeal1	T	C	1: 60,234,840	V409A	probably damaging	Het
Nlgn1	T	A	3: 25,436,300	D421V	probably damaging	Het
Nlrp10	T	C	7: 108,925,118	D385G	probably benign	Het
Nr2e3	T	A	9: 59,949,796	D30V	probably benign	Het
Nyap1	A	G	5: 137,735,032	S580P	probably benign	Het
Olfr1259	A	G	2: 89,943,923	L64P	probably damaging	Het
Olfr1509	T	A	14: 52,450,887	V158E	probably benign	Het
Pex1	A	G	5: 3,630,038	H952R	probably damaging	Het
Plin4	T	A	17: 56,103,849	I1061F	possibly damaging	Het
Pnkp	C	A	7: 44,862,602	R517S	probably benign	Het
Polr2e	T	A	10: 80,038,554	E39D	probably benign	Het
Prokr1	T	C	6: 87,588,593	Y90C	probably benign	Het
Ptprm	A	T	17: 66,940,580	S587T	probably benign	Het
Rere	G	A	4: 150,616,837	E1225K	probably damaging	Het
Rsl24d1	G	T	9: 73,114,614		probably benign	Het
Selp	A	G	1: 164,126,512	N127S	probably benign	Het
Slc22a18	C	T	7: 143,476,247	T17I	probably damaging	Het
Smad2	A	G	18: 76,262,705	T72A	possibly damaging	Het
Snx29	G	A	16: 11,399,783	W149*	probably null	Het
Stk31	G	T	6: 49,446,478		probably null	Het
Sult1e1	T	G	5: 87,587,671		probably null	Het
Syngap1	G	A	17: 26,944,687	R41H	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,398		probably null	Het
Tie1	A	T	4: 118,472,790		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp47	T	A	7: 112,092,876	D848E	probably benign	Het
Vmn1r72	A	G	7: 11,669,804	L239P	probably damaging	Het
Vmn2r124	T	C	17: 18,062,860	I272T	probably benign	Het
Vwa1	C	T	4: 155,773,114	V76M	probably damaging	Het
Xrn1	G	T	9: 96,024,221		probably null	Het
Zfp667	G	T	7: 6,305,088	V252F	probably benign	Het
Zranb3	A	T	1: 127,999,399	V343D	probably damaging	Het

Other mutations in Dmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Dmd	APN	X	83908372	splice site	probably null
IGL00823:Dmd	APN	X	84425813	splice site	probably null
IGL01160:Dmd	APN	X	83924961	missense	probably damaging	1.00
IGL01285:Dmd	APN	X	85109984	nonsense	probably null
IGL01294:Dmd	APN	X	84431998	splice site	probably null
IGL02426:Dmd	APN	X	84848736	missense	probably damaging	1.00
IGL02610:Dmd	APN	X	83664156	missense	probably damaging	1.00
IGL02887:Dmd	APN	X	83878504	missense	probably benign	0.44
IGL03268:Dmd	APN	X	83806208	missense	probably damaging	0.98
IGL03301:Dmd	APN	X	83908514	missense	probably damaging	1.00
R0480:Dmd	UTSW	X	84425738	missense	probably benign	0.00
R0714:Dmd	UTSW	X	84309897	missense	probably benign	0.00
R1296:Dmd	UTSW	X	83878520	missense	probably damaging	1.00
R1448:Dmd	UTSW	X	84848700	missense	probably damaging	0.97
R1678:Dmd	UTSW	X	84974762	missense	probably benign	0.43
R1714:Dmd	UTSW	X	83964750	missense	probably benign	0.17
R1951:Dmd	UTSW	X	83830517	missense	probably damaging	1.00
R1952:Dmd	UTSW	X	83830517	missense	probably damaging	1.00
R1955:Dmd	UTSW	X	83878557	missense	probably benign	0.10
R2072:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2073:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2074:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2075:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2118:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2119:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2120:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R2122:Dmd	UTSW	X	84312483	missense	probably benign	0.33
R4398:Dmd	UTSW	X	83722018	missense	probably benign	0.01
X0025:Dmd	UTSW	X	84647194	missense	probably benign
Z1088:Dmd	UTSW	X	83878495	missense	possibly damaging	0.67
Z1088:Dmd	UTSW	X	84575760	missense	probably benign	0.05
Z1176:Dmd	UTSW	X	83627286	missense	probably damaging	1.00
Z1176:Dmd	UTSW	X	83878484	missense	possibly damaging	0.90
Z1177:Dmd	UTSW	X	83627271	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