Mutagenetix > Incidental Mutations

Incidental Mutation 'R1823:Myocd'

206587

Institutional Source

Beutler Lab

Gene Symbol

Myocd

Ensembl Gene

ENSMUSG00000020542

Gene Name

myocardin

Synonyms

Srfcp

MMRRC Submission

039851-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65176561-65269989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65178670 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 909 (M909I)

Ref Sequence

ENSEMBL: ENSMUSP00000104335 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101042
AA Change: M781I

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

SMART Domains

Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: M781I

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: M861I

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

SMART Domains

Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: M861I

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: M909I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: M909I

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

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	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 damaging	0.97
Nate	UTSW	11	65233088	splice site	probably null
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 damaging	0.97
R1630:Myocd	UTSW	11	65196394	missense	probably damaging	0.97
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
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
R2105:Myocd	UTSW	11	65218658	nonsense	probably null
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
X0057:Myocd	UTSW	11	65183445	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TAGCTCTTGTACCTCGGGTG -3'
(R):5'- TGACGAACACCTGGAAGTC -3'

Sequencing Primer
(F):5'- CACTGCTGTAAGTGGAGATCC -3'
(R):5'- GACGAACACCTGGAAGTCTTATTG -3'

Posted On

2014-06-23