Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02324:Myocd'

288392

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 #

IGL02324

Quality Score

Status

Chromosome

Chromosomal Location

65067387-65160815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65069484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 785 (L785F)

Ref Sequence

ENSEMBL: ENSMUSP00000098603 (fasta)

Gene Model

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

AlphaFold

Q8VIM5

Predicted Effect

probably benign
Transcript: ENSMUST00000101042
AA Change: L785F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: L785F

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: L865F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: L865F

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: L913F

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

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: L913F

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,203,511 (GRCm39)	C124S	probably damaging	Het
Aldh1a7	T	C	19: 20,704,368 (GRCm39)	N42S	probably damaging	Het
Arhgef1	T	C	7: 24,623,240 (GRCm39)	L667P	probably damaging	Het
C1qb	C	A	4: 136,607,811 (GRCm39)	R184L	possibly damaging	Het
Cacna1s	A	G	1: 136,002,914 (GRCm39)		probably benign	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Copg2	C	A	6: 30,840,469 (GRCm39)		probably null	Het
Cyp2d40	A	T	15: 82,645,149 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,414,170 (GRCm39)	I365T	probably damaging	Het
Dhx29	A	G	13: 113,064,342 (GRCm39)	K6E	probably damaging	Het
Dpp10	T	A	1: 123,295,531 (GRCm39)	T539S	probably benign	Het
Ehbp1	A	T	11: 22,046,048 (GRCm39)	I542K	probably damaging	Het
Fat1	A	G	8: 45,493,593 (GRCm39)	Y3913C	probably damaging	Het
Flt4	C	T	11: 49,536,822 (GRCm39)	T1264I	probably benign	Het
Fmnl1	A	G	11: 103,070,364 (GRCm39)	D51G	probably damaging	Het
Gm17093	A	G	14: 44,755,807 (GRCm39)	T25A	unknown	Het
Gpatch2	A	G	1: 186,957,936 (GRCm39)	E97G	probably damaging	Het
Hcn1	T	C	13: 118,039,422 (GRCm39)	L446P	unknown	Het
Hpse2	A	T	19: 42,920,038 (GRCm39)	L354I	probably damaging	Het
Hspa4	A	G	11: 53,190,885 (GRCm39)		probably null	Het
Krtap16-1	C	T	11: 99,877,129 (GRCm39)	V92M	probably damaging	Het
Med23	A	T	10: 24,773,239 (GRCm39)	Q281L	probably damaging	Het
Megf8	T	C	7: 25,039,873 (GRCm39)	S963P	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mycbp2	A	G	14: 103,479,643 (GRCm39)	S1217P	probably damaging	Het
Nell2	T	C	15: 95,126,982 (GRCm39)	T798A	probably damaging	Het
Nfat5	T	C	8: 108,092,808 (GRCm39)		probably benign	Het
Olfm5	T	C	7: 103,803,302 (GRCm39)		probably null	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
P2ry1	A	T	3: 60,911,199 (GRCm39)	N113Y	possibly damaging	Het
Pan3	A	G	5: 147,466,933 (GRCm39)		probably null	Het
Pappa	A	G	4: 65,115,045 (GRCm39)	R714G	probably damaging	Het
Plcd1	A	G	9: 118,901,710 (GRCm39)	F579L	probably damaging	Het
Ptprb	T	C	10: 116,155,238 (GRCm39)	V664A	probably benign	Het
Slc27a5	T	A	7: 12,731,487 (GRCm39)	Q168L	probably benign	Het
Spag8	T	C	4: 43,651,781 (GRCm39)	E395G	probably damaging	Het
Stfa2l1	T	C	16: 35,982,138 (GRCm39)	Y70H	probably damaging	Het
Taf2	T	C	15: 54,891,772 (GRCm39)	N1017S	probably benign	Het
Tnfrsf25	C	A	4: 152,203,779 (GRCm39)	Q296K	probably damaging	Het
Trpm3	T	A	19: 22,676,143 (GRCm39)	I103N	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
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

2015-04-16