Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Dmd'

190908

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

039747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.829) question?

Stock #

R1714 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

81992476-84249747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83008356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 2069 (T2069P)

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: T2069P

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109633
Gene: ENSMUSG00000045103
AA Change: T2069P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	probably damaging	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
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'- AAGGGTAATCTCTTAGCCAAGTGTTAGTCTAt -3'
(R):5'- GCATTCACATTGTGTTCAATTTTAGAGGATGA -3'

Sequencing Primer
(F):5'- agaagccagcagaagcc -3'
(R):5'- TCTCCTTTTCTGTCATTTTAACCAG -3'

Posted On

2014-05-14