Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Dmd'

188323

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

039714-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R1678 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

81992476-84249747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84018368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 3067 (I3067N)

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: I3067N

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: I3067N

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239 (GRCm38)	F515L	probably damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,161,087 (GRCm39)	N143I	probably damaging	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Kcnq3	A	G	15: 65,903,281 (GRCm39)	L143P	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sctr	G	T	1: 119,964,169 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tcp1	T	A	17: 13,139,310 (GRCm39)	N212K	probably benign	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	probably benign	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
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'- AGTCTTGATGGGCAACTGAGCAAAC -3'
(R):5'- TGTTGAGAATGAGCAACTCAGCTCC -3'

Sequencing Primer
(F):5'- CTGAGCAAACAGACCAGTATAAGTG -3'
(R):5'- CAGCTCCATAAATTCTGGACTG -3'

Posted On

2014-05-09