Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Myocd'

408591

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 #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

65067387-65160815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65109511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 87 (T87A)

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 benign
Transcript: ENSMUST00000102635
AA Change: T87A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: T87A

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 benign
Transcript: ENSMUST00000108695
AA Change: T87A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: T87A

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Crisp1	T	C	17: 40,618,619 (GRCm39)	T81A	probably benign	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Enpep	T	C	3: 129,092,599 (GRCm39)	D528G	probably damaging	Het
Fbxo6	G	A	4: 148,230,579 (GRCm39)	Q228*	probably null	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Ttc34	T	C	4: 154,945,640 (GRCm39)	S734P	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	probably benign	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
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

2016-08-02