Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Myocd'

224370

Institutional Source

Beutler Lab

Gene Symbol

Myocd

Ensembl Gene

ENSMUSG00000020542

Gene Name

myocardin

Synonyms

Srfcp

MMRRC Submission

040007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65067387-65160815 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 65095147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 47 (Q47*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101042] [ENSMUST00000102635] [ENSMUST00000108695]

AlphaFold

Q8VIM5

Predicted Effect

probably null
Transcript: ENSMUST00000101042
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: Q45*

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
SCOP:d1lsha3	140	221	4e-3	SMART
SAP	252	286	1.29e-8	SMART
low complexity region	326	343	N/A	INTRINSIC
low complexity region	371	383	N/A	INTRINSIC
coiled coil region	396	435	N/A	INTRINSIC
low complexity region	557	573	N/A	INTRINSIC
low complexity region	615	629	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102635
AA Change: Q173*

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: Q173*

Domain	Start	End	E-Value	Type
RPEL	18	43	4e-1	SMART
RPEL	62	87	9.26e0	SMART
RPEL	106	131	1.15e-6	SMART
low complexity region	147	160	N/A	INTRINSIC
low complexity region	247	260	N/A	INTRINSIC
SCOP:d1lsha3	268	349	4e-3	SMART
SAP	380	414	1.29e-8	SMART
low complexity region	454	471	N/A	INTRINSIC
low complexity region	499	511	N/A	INTRINSIC
coiled coil region	524	563	N/A	INTRINSIC
low complexity region	695	709	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108695
AA Change: Q173*

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: Q173*

Domain	Start	End	E-Value	Type
RPEL	18	43	4e-1	SMART
RPEL	62	87	9.26e0	SMART
RPEL	106	131	1.15e-6	SMART
low complexity region	147	160	N/A	INTRINSIC
low complexity region	247	260	N/A	INTRINSIC
SCOP:d1lsha3	268	349	5e-3	SMART
SAP	380	414	1.29e-8	SMART
low complexity region	454	471	N/A	INTRINSIC
low complexity region	499	511	N/A	INTRINSIC
coiled coil region	524	563	N/A	INTRINSIC
low complexity region	685	701	N/A	INTRINSIC
low complexity region	743	757	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000144399
AA Change: Q47*

SMART Domains

Protein: ENSMUSP00000115572
Gene: ENSMUSG00000020542
AA Change: Q47*

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
low complexity region	160	195	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a null mutation exhibit embryonic lethality and fail to form vascular smooth muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,005 (GRCm39)	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca17	A	G	17: 24,504,700 (GRCm39)	I1233T	probably benign	Het
Acin1	T	C	14: 54,884,156 (GRCm39)		probably null	Het
Acly	A	T	11: 100,409,977 (GRCm39)	I185N	probably damaging	Het
Adamts16	T	C	13: 70,901,386 (GRCm39)	D897G	probably benign	Het
Allc	A	C	12: 28,613,482 (GRCm39)	D153E	probably benign	Het
Ankrd12	A	G	17: 66,291,879 (GRCm39)	S1185P	probably damaging	Het
Aoc1l2	A	T	6: 48,909,363 (GRCm39)	Q536L	probably damaging	Het
Ap1g2	T	C	14: 55,339,835 (GRCm39)	E448G	probably benign	Het
Atg9a	A	T	1: 75,166,270 (GRCm39)	V50D	probably benign	Het
Bace2	A	T	16: 97,216,289 (GRCm39)	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,199,283 (GRCm39)	K708E	probably damaging	Het
Card10	G	A	15: 78,678,175 (GRCm39)	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,547,271 (GRCm39)	V39E	probably damaging	Het
Cdh20	A	T	1: 109,976,668 (GRCm39)	D111V	probably damaging	Het
Cercam	C	A	2: 29,762,935 (GRCm39)	T223K	probably benign	Het
Cimip2a	T	G	2: 25,110,217 (GRCm39)	L43R	probably damaging	Het
Cog5	A	G	12: 31,710,848 (GRCm39)	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,779,446 (GRCm39)	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 26,857,038 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,630,254 (GRCm39)	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,710,672 (GRCm39)	V287A	probably benign	Het
Dennd4c	A	G	4: 86,755,634 (GRCm39)	T1609A	probably benign	Het
Depdc5	T	A	5: 33,059,250 (GRCm39)		probably null	Het
Dhcr7	T	G	7: 143,401,167 (GRCm39)	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680 (GRCm39)	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,046,203 (GRCm39)	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,181,281 (GRCm39)	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,129,005 (GRCm39)	L205P	probably damaging	Het
Fam91a1	A	G	15: 58,296,044 (GRCm39)		probably null	Het
Fank1	C	T	7: 133,463,954 (GRCm39)	T50I	probably damaging	Het
Fhod3	A	G	18: 25,223,473 (GRCm39)	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,306,841 (GRCm39)	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502 (GRCm39)	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,751,387 (GRCm39)	L138I	probably damaging	Het
Gm2832	T	A	14: 41,002,943 (GRCm39)		probably null	Het
Gm5084	T	A	13: 60,360,344 (GRCm39)		noncoding transcript	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241 (GRCm39)	S39P	probably damaging	Het
Hesx1	A	T	14: 26,723,340 (GRCm39)	N57Y	probably damaging	Het
Kcnh1	G	A	1: 191,959,243 (GRCm39)	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904 (GRCm39)	T1168A	possibly damaging	Het
Kng2	A	T	16: 22,843,626 (GRCm39)	F118I	possibly damaging	Het
Lig3	C	T	11: 82,678,492 (GRCm39)	P245S	probably benign	Het
Loxhd1	G	T	18: 77,383,465 (GRCm39)	W121C	probably damaging	Het
Ltn1	A	G	16: 87,178,525 (GRCm39)	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,473,882 (GRCm39)		probably null	Het
Mcm10	C	T	2: 4,998,571 (GRCm39)	V790M	probably damaging	Het
Mia3	A	T	1: 183,125,707 (GRCm39)	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,288,405 (GRCm39)	K150N	probably damaging	Het
Morn4	T	C	19: 42,064,977 (GRCm39)	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,037,195 (GRCm39)		probably null	Het
Nav2	T	A	7: 49,198,219 (GRCm39)	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,461,266 (GRCm39)	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003 (GRCm38)	G67V	probably benign	Het
Nlgn2	A	C	11: 69,718,876 (GRCm39)	V271G	probably damaging	Het
Or1o2	A	G	17: 37,542,523 (GRCm39)	V246A	probably damaging	Het
Or2l5	A	C	16: 19,333,792 (GRCm39)	V198G	probably damaging	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Per2	T	C	1: 91,368,581 (GRCm39)	E264G	probably damaging	Het
Phf2	A	G	13: 48,982,384 (GRCm39)	L113P	unknown	Het
Piwil2	A	G	14: 70,664,107 (GRCm39)	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pms2	T	C	5: 143,850,518 (GRCm39)	L111P	probably damaging	Het
Polg	A	G	7: 79,108,979 (GRCm39)	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,774,093 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,778,671 (GRCm39)	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Prkar2b	A	G	12: 32,013,934 (GRCm39)	V314A	probably damaging	Het
Proser1	T	A	3: 53,386,292 (GRCm39)	S725T	probably benign	Het
Psg20	A	G	7: 18,416,535 (GRCm39)	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,496 (GRCm39)	I2255V	probably damaging	Het
Sardh	T	G	2: 27,134,409 (GRCm39)	T36P	probably damaging	Het
Sec23a	T	A	12: 59,048,793 (GRCm39)	I110L	probably benign	Het
Slc22a29	T	A	19: 8,195,162 (GRCm39)	I158L	probably benign	Het
Slc35c1	T	C	2: 92,284,984 (GRCm39)	D210G	probably benign	Het
Syde2	A	G	3: 145,704,746 (GRCm39)	N566S	probably benign	Het
Tcf20	G	A	15: 82,741,431 (GRCm39)	Q7*	probably null	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,192,350 (GRCm39)	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,420,973 (GRCm39)	Y29C	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Uaca	A	G	9: 60,777,623 (GRCm39)	E668G	probably damaging	Het
Ube2o	T	A	11: 116,436,163 (GRCm39)	E326V	probably damaging	Het
Ubr1	C	T	2: 120,776,754 (GRCm39)		probably null	Het
Vmn1r19	T	A	6: 57,382,033 (GRCm39)	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,292,880 (GRCm39)	D307E	probably damaging	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Zan	A	T	5: 137,401,376 (GRCm39)	C4114*	probably null	Het
Zbed6	A	G	1: 133,584,451 (GRCm39)	L962P	probably damaging	Het
Zdhhc23	A	T	16: 43,799,305 (GRCm39)	C37S	probably damaging	Het
Zfp628	G	T	7: 4,921,831 (GRCm39)	G18W	probably damaging	Het
Zfp712	T	A	13: 67,190,114 (GRCm39)	K138*	probably null	Het
Zfp867	A	T	11: 59,354,417 (GRCm39)	V304D	probably damaging	Het
Zfp870	T	C	17: 33,103,027 (GRCm39)	T102A	possibly damaging	Het
Zmym5	G	A	14: 57,035,210 (GRCm39)	S286L	possibly damaging	Het

Other mutations in Myocd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Myocd	APN	11	65,071,770 (GRCm39)	critical splice acceptor site	probably null
IGL00481:Myocd	APN	11	65,077,980 (GRCm39)	missense	probably damaging	0.99
IGL00857:Myocd	APN	11	65,069,662 (GRCm39)	missense	possibly damaging	0.93
IGL01012:Myocd	APN	11	65,075,451 (GRCm39)	missense	possibly damaging	0.51
IGL01570:Myocd	APN	11	65,091,633 (GRCm39)	missense	probably benign	0.00
IGL01865:Myocd	APN	11	65,091,723 (GRCm39)	missense	probably benign	0.30
IGL01938:Myocd	APN	11	65,077,914 (GRCm39)	missense	probably damaging	1.00
IGL02324:Myocd	APN	11	65,069,484 (GRCm39)	missense	probably benign	0.01
IGL02598:Myocd	APN	11	65,074,296 (GRCm39)	missense	probably benign	0.31
IGL02886:Myocd	APN	11	65,069,569 (GRCm39)	missense	probably damaging	0.99
IGL03008:Myocd	APN	11	65,078,392 (GRCm39)	missense	probably damaging	0.98
IGL03034:Myocd	APN	11	65,109,511 (GRCm39)	missense	probably benign	0.00
harvey	UTSW	11	65,069,856 (GRCm39)	splice site	probably null
irma	UTSW	11	65,087,220 (GRCm39)	missense	probably benign	0.02
myra	UTSW	11	65,069,685 (GRCm39)	missense	probably benign	0.10
Nate	UTSW	11	65,123,914 (GRCm39)	splice site	probably null
R0838_Myocd_053	UTSW	11	65,069,758 (GRCm39)	missense	probably benign	0.00
R0078:Myocd	UTSW	11	65,078,290 (GRCm39)	missense	possibly damaging	0.96
R0097:Myocd	UTSW	11	65,069,840 (GRCm39)	missense	possibly damaging	0.67
R0097:Myocd	UTSW	11	65,069,840 (GRCm39)	missense	possibly damaging	0.67
R0234:Myocd	UTSW	11	65,078,066 (GRCm39)	missense	probably benign	0.01
R0234:Myocd	UTSW	11	65,078,066 (GRCm39)	missense	probably benign	0.01
R0453:Myocd	UTSW	11	65,087,051 (GRCm39)	missense	probably damaging	1.00
R0523:Myocd	UTSW	11	65,071,728 (GRCm39)	missense	probably damaging	1.00
R0838:Myocd	UTSW	11	65,069,758 (GRCm39)	missense	probably benign	0.00
R0899:Myocd	UTSW	11	65,086,018 (GRCm39)	missense	possibly damaging	0.50
R1167:Myocd	UTSW	11	65,087,203 (GRCm39)	missense	possibly damaging	0.77
R1472:Myocd	UTSW	11	65,078,330 (GRCm39)	missense	probably benign	0.01
R1508:Myocd	UTSW	11	65,075,342 (GRCm39)	missense	probably damaging	0.98
R1620:Myocd	UTSW	11	65,087,220 (GRCm39)	missense	probably benign	0.02
R1630:Myocd	UTSW	11	65,087,220 (GRCm39)	missense	probably benign	0.02
R1731:Myocd	UTSW	11	65,091,714 (GRCm39)	missense	probably benign	0.30
R1740:Myocd	UTSW	11	65,109,347 (GRCm39)	splice site	probably benign
R1769:Myocd	UTSW	11	65,069,527 (GRCm39)	missense	probably benign	0.01
R1823:Myocd	UTSW	11	65,069,496 (GRCm39)	missense	probably benign	0.00
R1968:Myocd	UTSW	11	65,091,733 (GRCm39)	missense	probably damaging	1.00
R2018:Myocd	UTSW	11	65,077,854 (GRCm39)	missense	probably damaging	1.00
R2105:Myocd	UTSW	11	65,109,484 (GRCm39)	nonsense	probably null
R2314:Myocd	UTSW	11	65,091,633 (GRCm39)	missense	probably damaging	1.00
R4330:Myocd	UTSW	11	65,114,590 (GRCm39)	missense	probably benign	0.12
R4331:Myocd	UTSW	11	65,114,590 (GRCm39)	missense	probably benign	0.12
R4603:Myocd	UTSW	11	65,078,571 (GRCm39)	missense	possibly damaging	0.82
R4619:Myocd	UTSW	11	65,069,254 (GRCm39)	utr 3 prime	probably benign
R4631:Myocd	UTSW	11	65,069,685 (GRCm39)	missense	probably benign	0.10
R4865:Myocd	UTSW	11	65,069,856 (GRCm39)	splice site	probably null
R4974:Myocd	UTSW	11	65,074,299 (GRCm39)	missense	possibly damaging	0.78
R4976:Myocd	UTSW	11	65,112,876 (GRCm39)	missense	probably benign	0.00
R5478:Myocd	UTSW	11	65,123,914 (GRCm39)	splice site	probably null
R5499:Myocd	UTSW	11	65,069,575 (GRCm39)	missense	possibly damaging	0.62
R6052:Myocd	UTSW	11	65,087,082 (GRCm39)	missense	probably damaging	1.00
R6356:Myocd	UTSW	11	65,109,396 (GRCm39)	splice site	probably null
R7144:Myocd	UTSW	11	65,109,474 (GRCm39)	missense	probably damaging	1.00
R7261:Myocd	UTSW	11	65,078,422 (GRCm39)	missense	probably damaging	0.98
R7354:Myocd	UTSW	11	65,078,319 (GRCm39)	missense	probably benign	0.00
R7461:Myocd	UTSW	11	65,109,429 (GRCm39)	missense	probably damaging	1.00
R7613:Myocd	UTSW	11	65,109,429 (GRCm39)	missense	probably damaging	1.00
R7718:Myocd	UTSW	11	65,109,452 (GRCm39)	missense	probably damaging	1.00
R7956:Myocd	UTSW	11	65,160,494 (GRCm39)	missense	possibly damaging	0.50
R8345:Myocd	UTSW	11	65,077,958 (GRCm39)	nonsense	probably null
R8975:Myocd	UTSW	11	65,069,287 (GRCm39)	missense	probably damaging	1.00
R9051:Myocd	UTSW	11	65,077,795 (GRCm39)	missense	probably benign
R9400:Myocd	UTSW	11	65,086,934 (GRCm39)	missense	probably benign	0.00
R9469:Myocd	UTSW	11	65,087,220 (GRCm39)	missense	probably benign	0.02
R9565:Myocd	UTSW	11	65,078,209 (GRCm39)	missense	probably damaging	1.00
R9567:Myocd	UTSW	11	65,078,410 (GRCm39)	missense	probably damaging	1.00
R9585:Myocd	UTSW	11	65,095,192 (GRCm39)	missense	probably damaging	1.00
R9710:Myocd	UTSW	11	65,087,167 (GRCm39)	missense	probably damaging	1.00
R9768:Myocd	UTSW	11	65,078,217 (GRCm39)	missense	probably damaging	1.00
X0057:Myocd	UTSW	11	65,074,271 (GRCm39)	missense	possibly damaging	0.87
Z1186:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1187:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1188:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1189:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1190:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1191:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign
Z1192:Myocd	UTSW	11	65,075,418 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCACCAGGTAAGCTGCTG -3'
(R):5'- GCAGCATTTCTGAACAGCACTG -3'

Sequencing Primer
(F):5'- CCAAGGGTTGAGCTTGAGACC -3'
(R):5'- GGGACGCTCCAAGTCATTGATTC -3'

Posted On

2014-08-25