Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Myocd'

230887

Institutional Source

Beutler Lab

Gene Symbol

Myocd

Ensembl Gene

ENSMUSG00000020542

Gene Name

myocardin

Synonyms

Srfcp

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (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 65218658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 96 (Q96*)

Ref Sequence

ENSEMBL: ENSMUSP00000104335 (fasta)

Gene Model

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

AlphaFold

Q8VIM5

Predicted Effect

probably benign
Transcript: ENSMUST00000101042

SMART Domains

Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542

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: Q96*

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: Q96*

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: Q96*

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: Q96*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	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
R1997:Myocd	UTSW	11	65204321	nonsense	probably null
R2018:Myocd	UTSW	11	65187028	missense	probably damaging	1.00
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'- ATGCTCAGAACAAAATCCCTGG -3'
(R):5'- CCTGTGAAGTGATGATGCTCAC -3'

Sequencing Primer
(F):5'- TGGATTGCCAGAGCTGC -3'
(R):5'- GTGTTTTCTAACCAGCAGC -3'

Posted On

2014-09-18