Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00092:Myocd'

1169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myocd

Ensembl Gene

ENSMUSG00000020542

Gene Name

myocardin

Synonyms

Srfcp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

65067387-65160815 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 65071770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104335 (fasta)

Gene Model

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

AlphaFold

Q8VIM5

Predicted Effect

probably null
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

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542

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

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542

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

noncoding transcript
Transcript: ENSMUST00000151483

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,892,430 (GRCm39)	D443G	probably benign	Het
Atg16l1	T	C	1: 87,693,119 (GRCm39)	I28T	possibly damaging	Het
Bpi	T	A	2: 158,116,716 (GRCm39)	V371E	probably damaging	Het
Cd109	T	G	9: 78,524,251 (GRCm39)	V55G	probably damaging	Het
Cd300c2	T	C	11: 114,892,375 (GRCm39)		probably benign	Het
Cic	C	T	7: 24,991,549 (GRCm39)	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,968,812 (GRCm39)		probably benign	Het
Cntn4	G	T	6: 106,483,186 (GRCm39)	C247F	probably damaging	Het
Disp3	C	T	4: 148,325,991 (GRCm39)	V1256I	probably benign	Het
Farsb	A	T	1: 78,439,630 (GRCm39)	S338T	probably benign	Het
Fcnb	T	C	2: 27,966,813 (GRCm39)	N240S	probably benign	Het
Flg2	A	G	3: 93,127,162 (GRCm39)	S5G	possibly damaging	Het
Git1	T	C	11: 77,396,783 (GRCm39)	L635P	probably benign	Het
Gm21985	T	G	2: 112,181,679 (GRCm39)	W685G	probably damaging	Het
Gpt2	T	C	8: 86,238,953 (GRCm39)	V262A	probably benign	Het
Hecw2	A	G	1: 53,869,896 (GRCm39)	V1444A	probably damaging	Het
Herc1	T	C	9: 66,391,248 (GRCm39)	V4017A	probably benign	Het
Klhl17	T	C	4: 156,318,147 (GRCm39)	T129A	possibly damaging	Het
Krt84	T	G	15: 101,437,170 (GRCm39)	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,533,017 (GRCm39)	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,651,314 (GRCm39)	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Nid1	A	G	13: 13,650,977 (GRCm39)	N505D	probably damaging	Het
Ninj1	A	T	13: 49,347,210 (GRCm39)		probably null	Het
Or14a260	C	T	7: 85,985,269 (GRCm39)	V112I	probably benign	Het
Or1x6	C	A	11: 50,939,227 (GRCm39)	Q98K	probably benign	Het
Or4d10c	A	T	19: 12,065,357 (GRCm39)	D266E	probably benign	Het
Plscr2	T	A	9: 92,172,685 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,655,353 (GRCm39)	T307A	probably benign	Het
Sart3	T	C	5: 113,884,730 (GRCm39)	R625G	probably benign	Het
Sohlh2	T	A	3: 55,115,236 (GRCm39)	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,178,492 (GRCm39)	S877P	probably damaging	Het
Stat1	T	C	1: 52,161,754 (GRCm39)	M1T	probably null	Het
Szt2	C	T	4: 118,241,447 (GRCm39)		probably benign	Het
Tars3	G	T	7: 65,302,007 (GRCm39)		probably null	Het
Terb2	T	A	2: 122,028,867 (GRCm39)	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,099,283 (GRCm39)	Y177C	probably damaging	Het
Trappc9	A	T	15: 72,897,875 (GRCm39)	I169N	possibly damaging	Het
Trim47	A	G	11: 115,997,020 (GRCm39)	L578P	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,953,758 (GRCm39)	S641P	probably benign	Het
Vwa5a	T	A	9: 38,649,110 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,765,952 (GRCm39)	I1493N	probably benign	Het

Other mutations in Myocd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1997:Myocd	UTSW	11	65,095,147 (GRCm39)	nonsense	probably null
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

Posted On

2011-07-12