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

65176561-65269989 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 65204321 bp (GRCm38)

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
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Polg	A	G	7: 79,459,231	L533P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Myocd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Myocd	APN	11	65180944	critical splice acceptor site	probably null
IGL00481:Myocd	APN	11	65187154	missense	probably damaging	0.99
IGL00857:Myocd	APN	11	65178836	missense	possibly damaging	0.93
IGL01012:Myocd	APN	11	65184625	missense	possibly damaging	0.51
IGL01570:Myocd	APN	11	65200807	missense	probably benign	0.00
IGL01865:Myocd	APN	11	65200897	missense	probably benign	0.30
IGL01938:Myocd	APN	11	65187088	missense	probably damaging	1.00
IGL02324:Myocd	APN	11	65178658	missense	probably benign	0.01
IGL02598:Myocd	APN	11	65183470	missense	probably benign	0.31
IGL02886:Myocd	APN	11	65178743	missense	probably damaging	0.99
IGL03008:Myocd	APN	11	65187566	missense	probably damaging	0.98
IGL03034:Myocd	APN	11	65218685	missense	probably benign	0.00
harvey	UTSW	11	65179030	splice site	probably null
irma	UTSW	11	65196394	missense	probably benign	0.02
myra	UTSW	11	65178859	missense	probably benign	0.10
Nate	UTSW	11	65233088	splice site	probably null
R0838_Myocd_053	UTSW	11	65178932	missense	probably benign	0.00
R0078:Myocd	UTSW	11	65187464	missense	possibly damaging	0.96
R0097:Myocd	UTSW	11	65179014	missense	possibly damaging	0.67
R0097:Myocd	UTSW	11	65179014	missense	possibly damaging	0.67
R0234:Myocd	UTSW	11	65187240	missense	probably benign	0.01
R0234:Myocd	UTSW	11	65187240	missense	probably benign	0.01
R0453:Myocd	UTSW	11	65196225	missense	probably damaging	1.00
R0523:Myocd	UTSW	11	65180902	missense	probably damaging	1.00
R0838:Myocd	UTSW	11	65178932	missense	probably benign	0.00
R0899:Myocd	UTSW	11	65195192	missense	possibly damaging	0.50
R1167:Myocd	UTSW	11	65196377	missense	possibly damaging	0.77
R1472:Myocd	UTSW	11	65187504	missense	probably benign	0.01
R1508:Myocd	UTSW	11	65184516	missense	probably damaging	0.98
R1620:Myocd	UTSW	11	65196394	missense	probably benign	0.02
R1630:Myocd	UTSW	11	65196394	missense	probably benign	0.02
R1731:Myocd	UTSW	11	65200888	missense	probably benign	0.30
R1740:Myocd	UTSW	11	65218521	splice site	probably benign
R1769:Myocd	UTSW	11	65178701	missense	probably benign	0.01
R1823:Myocd	UTSW	11	65178670	missense	probably benign	0.00
R1968:Myocd	UTSW	11	65200907	missense	probably damaging	1.00
R2018:Myocd	UTSW	11	65187028	missense	probably damaging	1.00
R2105:Myocd	UTSW	11	65218658	nonsense	probably null
R2314:Myocd	UTSW	11	65200807	missense	probably damaging	1.00
R4330:Myocd	UTSW	11	65223764	missense	probably benign	0.12
R4331:Myocd	UTSW	11	65223764	missense	probably benign	0.12
R4603:Myocd	UTSW	11	65187745	missense	possibly damaging	0.82
R4619:Myocd	UTSW	11	65178428	utr 3 prime	probably benign
R4631:Myocd	UTSW	11	65178859	missense	probably benign	0.10
R4865:Myocd	UTSW	11	65179030	splice site	probably null
R4974:Myocd	UTSW	11	65183473	missense	possibly damaging	0.78
R4976:Myocd	UTSW	11	65222050	missense	probably benign	0.00
R5478:Myocd	UTSW	11	65233088	splice site	probably null
R5499:Myocd	UTSW	11	65178749	missense	possibly damaging	0.62
R6052:Myocd	UTSW	11	65196256	missense	probably damaging	1.00
R6356:Myocd	UTSW	11	65218570	splice site	probably null
R7144:Myocd	UTSW	11	65218648	missense	probably damaging	1.00
R7261:Myocd	UTSW	11	65187596	missense	probably damaging	0.98
R7354:Myocd	UTSW	11	65187493	missense	probably benign	0.00
R7461:Myocd	UTSW	11	65218603	missense	probably damaging	1.00
R7613:Myocd	UTSW	11	65218603	missense	probably damaging	1.00
R7718:Myocd	UTSW	11	65218626	missense	probably damaging	1.00
R7956:Myocd	UTSW	11	65269668	missense	possibly damaging	0.50
R8345:Myocd	UTSW	11	65187132	nonsense	probably null
R8975:Myocd	UTSW	11	65178461	missense	probably damaging	1.00
R9051:Myocd	UTSW	11	65186969	missense	probably benign
R9400:Myocd	UTSW	11	65196108	missense	probably benign	0.00
R9469:Myocd	UTSW	11	65196394	missense	probably benign	0.02
R9565:Myocd	UTSW	11	65187383	missense	probably damaging	1.00
R9567:Myocd	UTSW	11	65187584	missense	probably damaging	1.00
R9585:Myocd	UTSW	11	65204366	missense	probably damaging	1.00
R9710:Myocd	UTSW	11	65196341	missense	probably damaging	1.00
R9768:Myocd	UTSW	11	65187391	missense	probably damaging	1.00
X0057:Myocd	UTSW	11	65183445	missense	possibly damaging	0.87
Z1186:Myocd	UTSW	11	65184592	missense	probably benign
Z1187:Myocd	UTSW	11	65184592	missense	probably benign
Z1188:Myocd	UTSW	11	65184592	missense	probably benign
Z1189:Myocd	UTSW	11	65184592	missense	probably benign
Z1190:Myocd	UTSW	11	65184592	missense	probably benign
Z1191:Myocd	UTSW	11	65184592	missense	probably benign
Z1192:Myocd	UTSW	11	65184592	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