Mutagenetix > Incidental Mutation

Incidental Mutation 'R2073:Dmd'

227383

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

040078-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R2073 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

81992476-84249747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 83356089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 2257 (A2257P)

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: A2257P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: A2257P

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: ENSMUST00000139998

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	C	7: 130,959,242 (GRCm39)	R153G	probably benign	Het
5730596B20Rik	C	A	6: 52,155,962 (GRCm39)	Y9*	probably null	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Acot3	A	G	12: 84,100,230 (GRCm39)	H2R	possibly damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,726,698 (GRCm39)	N73S	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ank	T	C	15: 27,565,108 (GRCm39)	S270P	probably benign	Het
Ankle1	G	A	8: 71,861,973 (GRCm39)	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,599,713 (GRCm39)	H19Y	possibly damaging	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Apaf1	G	T	10: 90,867,556 (GRCm39)	S763*	probably null	Het
Apba3	A	G	10: 81,105,128 (GRCm39)	T134A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bod1l	C	T	5: 41,976,532 (GRCm39)	S1594N	probably benign	Het
C7	T	C	15: 5,019,910 (GRCm39)	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,212,730 (GRCm39)	I11F	possibly damaging	Het
Cideb	T	C	14: 55,992,617 (GRCm39)	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,612,547 (GRCm39)	L862P	possibly damaging	Het
Coch	A	T	12: 51,649,472 (GRCm39)	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,132,639 (GRCm39)	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dgkg	A	G	16: 22,384,067 (GRCm39)	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,089,159 (GRCm39)	H252Y	probably damaging	Het
Dnaaf6rt	A	G	1: 31,262,077 (GRCm39)	S20G	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,581,026 (GRCm39)	I251N	probably damaging	Het
Eml5	A	G	12: 98,768,705 (GRCm39)	S1457P	probably damaging	Het
Fam114a1	T	A	5: 65,153,247 (GRCm39)		probably null	Het
Fcho1	A	T	8: 72,163,133 (GRCm39)	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,371,942 (GRCm39)	C111R	unknown	Het
H2-Q4	T	A	17: 35,599,378 (GRCm39)	S154T	possibly damaging	Het
Hhat	A	G	1: 192,409,687 (GRCm39)	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,363,068 (GRCm39)	D319V	probably damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Map2k4	A	C	11: 65,584,282 (GRCm39)	F334V	probably damaging	Het
Mmp19	G	A	10: 128,630,848 (GRCm39)	R156H	probably damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,171,948 (GRCm39)	H541N	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or5b122	A	T	19: 13,562,965 (GRCm39)	Q99L	probably damaging	Het
Pak6	A	C	2: 118,519,332 (GRCm39)	N17T	probably damaging	Het
Pcnt	T	A	10: 76,216,214 (GRCm39)	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf21a	A	G	2: 92,178,381 (GRCm39)	D357G	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,768,066 (GRCm39)	N335D	probably benign	Het
Pole	C	A	5: 110,473,417 (GRCm39)	T1737N	probably damaging	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Pramel6	G	A	2: 87,339,088 (GRCm39)	S96N	probably damaging	Het
Prdm14	A	C	1: 13,195,954 (GRCm39)	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rfc1	A	T	5: 65,459,282 (GRCm39)	D225E	probably damaging	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Setd6	G	A	8: 96,443,416 (GRCm39)	V60M	probably damaging	Het
Sgk3	A	G	1: 9,961,649 (GRCm39)	I432V	probably benign	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,635,964 (GRCm39)	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,774,956 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Smg6	C	G	11: 74,821,120 (GRCm39)	P464A	probably damaging	Het
Sox11	T	C	12: 27,392,278 (GRCm39)	T44A	possibly damaging	Het
Spata22	A	G	11: 73,227,052 (GRCm39)	R89G	possibly damaging	Het
Spmip6	A	G	4: 41,507,519 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syne2	A	G	12: 76,062,353 (GRCm39)	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,934,863 (GRCm39)	S1370P	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Trib1	T	A	15: 59,526,189 (GRCm39)	I253N	probably damaging	Het
Triobp	G	T	15: 78,858,095 (GRCm39)	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,853,406 (GRCm39)	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,760,749 (GRCm39)	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,784,974 (GRCm39)	K15N	probably benign	Het
Wnt9a	A	G	11: 59,222,055 (GRCm39)	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181 (GRCm39)	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp715	T	A	7: 42,960,544 (GRCm39)	T16S	probably benign	Het
Zfp932	A	G	5: 110,157,684 (GRCm39)	T461A	possibly damaging	Het
Zscan29	A	T	2: 120,991,336 (GRCm39)	C817*	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
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
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'- TTCAGCCCATCAGCTCTGTG -3'
(R):5'- AAGAATAATCCACCCTTCTGCTTC -3'

Sequencing Primer
(F):5'- GCTCTGTGCTCTGTGGAAG -3'
(R):5'- GTTGCAACACTTAGCACATGTGAC -3'

Posted On

2014-09-17