Mutagenetix > Incidental Mutation

Incidental Mutation 'R9051:Myocd'

688388

Institutional Source

Beutler Lab

Gene Symbol

Myocd

Ensembl Gene

ENSMUSG00000020542

Gene Name

myocardin

Synonyms

Srfcp

MMRRC Submission

068877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65067387-65160815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65077795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 667 (R667G)

Ref Sequence

ENSEMBL: ENSMUSP00000104335 (fasta)

Gene Model

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

AlphaFold

Q8VIM5

Predicted Effect

probably benign
Transcript: ENSMUST00000101042
AA Change: R539G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: R539G

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: R667G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: R667G

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: R667G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: R667G

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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,232 (GRCm39)	T3289S	probably damaging	Het
Actr1b	G	T	1: 36,740,534 (GRCm39)	Q240K	probably benign	Het
Adamts19	T	C	18: 59,034,048 (GRCm39)	V341A	probably damaging	Het
Akirin2	C	A	4: 34,551,148 (GRCm39)	S35*	probably null	Het
Alg3	G	T	16: 20,427,765 (GRCm39)	Q90K	probably benign	Het
Alox12	C	T	11: 70,138,153 (GRCm39)	R394H	possibly damaging	Het
Ankrd17	A	C	5: 90,411,134 (GRCm39)	M1387R	probably damaging	Het
Anp32b	T	G	4: 46,468,592 (GRCm39)	F121V	possibly damaging	Het
Atp2b2	A	G	6: 113,740,566 (GRCm39)	V815A	probably damaging	Het
Atxn7l1	T	C	12: 33,417,420 (GRCm39)	L527S	probably benign	Het
B9d2	C	T	7: 25,385,462 (GRCm39)	L91F	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,221 (GRCm39)	I188N	probably damaging	Het
Bnc2	A	C	4: 84,210,138 (GRCm39)	S744A	probably benign	Het
Casr	T	G	16: 36,330,414 (GRCm39)	M307L	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd109	TTATA	TTATATATA	9: 78,619,813 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,575,449 (GRCm39)	S198P	probably benign	Het
Cd37	C	A	7: 44,886,622 (GRCm39)	V99L	probably benign	Het
Cdkn1c	A	G	7: 143,013,964 (GRCm39)	S161P	possibly damaging	Het
Chi3l1	G	T	1: 134,111,919 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,198 (GRCm39)	F1669S	probably damaging	Het
Dchs2	A	T	3: 83,261,493 (GRCm39)	H2587L	probably benign	Het
Ddx19a	A	T	8: 111,710,228 (GRCm39)	M124K	probably benign	Het
Dnhd1	A	T	7: 105,341,933 (GRCm39)	H1244L	possibly damaging	Het
Dnpep	G	A	1: 75,292,329 (GRCm39)	P165L	probably damaging	Het
Dpp3	T	C	19: 4,973,172 (GRCm39)	R141G	probably benign	Het
Dpysl3	T	C	18: 43,462,814 (GRCm39)	D521G	probably damaging	Het
Dusp4	T	A	8: 35,284,345 (GRCm39)	M220K	probably damaging	Het
Duxf4	G	A	10: 58,071,711 (GRCm39)	P168S	probably damaging	Het
Edc4	T	A	8: 106,613,833 (GRCm39)	L391Q	probably damaging	Het
Edrf1	A	C	7: 133,273,207 (GRCm39)	I1221L	probably benign	Het
Elavl2	A	G	4: 91,199,847 (GRCm39)	L12P	probably benign	Het
Fastkd3	T	A	13: 68,733,071 (GRCm39)	V464D	probably damaging	Het
Flt4	C	A	11: 49,527,598 (GRCm39)	N920K	probably benign	Het
Gimap3	T	C	6: 48,742,259 (GRCm39)	T224A	probably benign	Het
Gm9772	T	A	17: 22,225,565 (GRCm39)	K112*	probably null	Het
Gp5	C	A	16: 30,127,976 (GRCm39)	V233L		Het
Gpr25	A	T	1: 136,188,026 (GRCm39)	W196R	probably benign	Het
Hs3st4	G	A	7: 123,582,680 (GRCm39)	G93S	probably damaging	Het
Igsf10	A	G	3: 59,236,668 (GRCm39)	L1171S	probably benign	Het
Itgb7	C	T	15: 102,126,359 (GRCm39)	G526S	possibly damaging	Het
Kcnh8	G	A	17: 53,141,642 (GRCm39)	C295Y	probably damaging	Het
Klhl8	A	G	5: 104,015,709 (GRCm39)		probably null	Het
Krt1c	T	A	15: 101,726,317 (GRCm39)	I74F	unknown	Het
Lamp5	G	T	2: 135,911,054 (GRCm39)	M262I	probably benign	Het
Lrp5	G	T	19: 3,680,156 (GRCm39)	R443S	possibly damaging	Het
Lrrc66	G	T	5: 73,765,267 (GRCm39)	A592E	probably benign	Het
Lrrc66	C	T	5: 73,765,268 (GRCm39)	A592T	probably benign	Het
Mettl23	T	A	11: 116,744,865 (GRCm39)	V93D	unknown	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mkrn2os	G	A	6: 115,562,325 (GRCm39)	R213W	probably benign	Het
Mrps36	T	A	13: 100,877,715 (GRCm39)	I22L	probably damaging	Het
Msantd5f4	A	G	4: 73,557,185 (GRCm39)	N6S	possibly damaging	Het
Ncapg	T	A	5: 45,853,140 (GRCm39)	L869M	probably damaging	Het
Ndst3	T	C	3: 123,465,549 (GRCm39)	N141S	probably benign	Het
Neu2	A	T	1: 87,524,965 (GRCm39)	R317*	probably null	Het
Nf1	G	T	11: 79,364,168 (GRCm39)	V1533F	probably damaging	Het
Npy4r	T	A	14: 33,869,083 (GRCm39)	R68S	possibly damaging	Het
Nr1h5	T	C	3: 102,853,427 (GRCm39)	H360R	probably null	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or4f14c	T	C	2: 111,941,441 (GRCm39)	D52G	probably damaging	Het
Or9s15	T	C	1: 92,524,978 (GRCm39)	S246P	probably damaging	Het
Osmr	A	C	15: 6,882,027 (GRCm39)	V39G	probably damaging	Het
Plekhm2	T	C	4: 141,359,732 (GRCm39)	D345G	possibly damaging	Het
Prkaa2	G	T	4: 104,906,600 (GRCm39)	S165*	probably null	Het
Qser1	A	T	2: 104,593,292 (GRCm39)	F1575Y	possibly damaging	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Ret	A	T	6: 118,142,888 (GRCm39)	Y929*	probably null	Het
Samd9l	T	A	6: 3,373,493 (GRCm39)	E1256V	probably benign	Het
Scnn1g	A	G	7: 121,341,566 (GRCm39)	I243V	possibly damaging	Het
Slc6a3	C	T	13: 73,718,031 (GRCm39)	R514*	probably null	Het
Sorcs3	C	T	19: 48,194,809 (GRCm39)	A64V	probably benign	Het
Sos1	G	T	17: 80,715,723 (GRCm39)	N1011K	probably benign	Het
Srbd1	C	A	17: 86,428,115 (GRCm39)	A373S	possibly damaging	Het
Tas1r1	C	T	4: 152,122,833 (GRCm39)	W4*	probably null	Het
Tcf15	C	T	2: 151,985,690 (GRCm39)	R49C	probably damaging	Het
Tex30	A	G	1: 44,127,136 (GRCm39)	V124A	possibly damaging	Het
Tgif1	T	C	17: 71,151,882 (GRCm39)	D243G		Het
Tgtp1	T	G	11: 48,877,916 (GRCm39)	D263A	probably damaging	Het
Themis3	T	A	17: 66,862,864 (GRCm39)	T365S	probably benign	Het
Thoc2l	C	A	5: 104,666,818 (GRCm39)	P447T	probably benign	Het
Tprg1	A	T	16: 25,231,662 (GRCm39)	I213F	probably damaging	Het
Traf4	A	T	11: 78,052,005 (GRCm39)	C160S	probably damaging	Het
Trio	T	C	15: 27,732,770 (GRCm39)	E3037G	possibly damaging	Het
Ttbk2	G	T	2: 120,575,911 (GRCm39)	S1022*	probably null	Het
Ttc6	T	C	12: 57,783,949 (GRCm39)	Y1803H	probably damaging	Het
Ttn	A	C	2: 76,549,452 (GRCm39)	Y31742D	probably benign	Het
Ttn	G	T	2: 76,617,595 (GRCm39)	P16292Q	probably damaging	Het
Ubr5	A	G	15: 38,002,503 (GRCm39)	V1510A		Het
Vac14	A	G	8: 111,379,869 (GRCm39)	D389G	probably benign	Het
Vwa8	A	G	14: 79,324,150 (GRCm39)	D1151G	probably benign	Het
Zfp608	T	C	18: 55,032,266 (GRCm39)	N558S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGACATTTGCCTTCCAAGC -3'
(R):5'- TCACTGTGTGGAGTCCTCAG -3'

Sequencing Primer
(F):5'- TTTGCCAACTGGTGATGCAAAG -3'
(R):5'- TGTGGAGTCCTCAGGTCAAAC -3'

Posted On

2021-11-19