Incidental Mutation 'R7354:Myocd'
ID |
570818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
045440-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7354 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65078319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 492
(V492A)
|
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: V364A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000098603 Gene: ENSMUSG00000020542 AA Change: V364A
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: V492A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: V492A
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: V492A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: V492A
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 |
|
Meta Mutation Damage Score |
0.0832 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (82/82) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago3 |
T |
A |
4: 126,311,099 (GRCm39) |
Q38L |
possibly damaging |
Het |
Apon |
T |
A |
10: 128,090,607 (GRCm39) |
I95N |
probably benign |
Het |
Arid1a |
G |
T |
4: 133,421,258 (GRCm39) |
P464Q |
unknown |
Het |
Arid4b |
A |
G |
13: 14,339,455 (GRCm39) |
D503G |
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,505,637 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,048,028 (GRCm39) |
V594D |
probably damaging |
Het |
Begain |
A |
G |
12: 108,999,215 (GRCm39) |
F519L |
possibly damaging |
Het |
Bora |
A |
G |
14: 99,284,794 (GRCm39) |
T15A |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,804,464 (GRCm39) |
M192K |
probably benign |
Het |
Ccdc125 |
T |
G |
13: 100,814,382 (GRCm39) |
|
probably null |
Het |
Cdcp3 |
G |
A |
7: 130,858,458 (GRCm39) |
C1042Y |
possibly damaging |
Het |
Cdcp3 |
G |
T |
7: 130,873,762 (GRCm39) |
C1696F |
unknown |
Het |
Cfap74 |
G |
T |
4: 155,549,804 (GRCm39) |
V146L |
unknown |
Het |
Crisp1 |
G |
A |
17: 40,630,071 (GRCm39) |
|
probably benign |
Het |
Ctbp1 |
A |
T |
5: 33,407,732 (GRCm39) |
H292Q |
possibly damaging |
Het |
Defb5 |
T |
A |
8: 19,300,750 (GRCm39) |
M34K |
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,146,249 (GRCm39) |
I93V |
probably benign |
Het |
Dqx1 |
T |
A |
6: 83,037,957 (GRCm39) |
Y448* |
probably null |
Het |
Dynap |
A |
T |
18: 70,374,371 (GRCm39) |
C52S |
possibly damaging |
Het |
Ehd4 |
C |
A |
2: 119,932,613 (GRCm39) |
R271L |
probably damaging |
Het |
Ercc2 |
T |
G |
7: 19,127,579 (GRCm39) |
I619S |
possibly damaging |
Het |
Etf1 |
A |
G |
18: 35,039,040 (GRCm39) |
I409T |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,271,529 (GRCm39) |
D367G |
probably damaging |
Het |
Fancd2 |
A |
G |
6: 113,572,907 (GRCm39) |
D1447G |
unknown |
Het |
Fbxw9 |
T |
C |
8: 85,788,825 (GRCm39) |
S192P |
probably damaging |
Het |
Frzb |
A |
T |
2: 80,277,153 (GRCm39) |
L11Q |
probably damaging |
Het |
Gm14496 |
T |
C |
2: 181,642,479 (GRCm39) |
S717P |
probably damaging |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
C |
T |
7: 115,683,146 (GRCm39) |
R145Q |
probably benign |
Het |
Gpr12 |
A |
T |
5: 146,520,772 (GRCm39) |
V50D |
probably damaging |
Het |
Hes1 |
T |
C |
16: 29,884,746 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,682,196 (GRCm39) |
C451* |
probably null |
Het |
Iars1 |
T |
C |
13: 49,857,796 (GRCm39) |
V347A |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,903,770 (GRCm39) |
S323P |
possibly damaging |
Het |
Itga6 |
G |
A |
2: 71,650,574 (GRCm39) |
A207T |
probably damaging |
Het |
Lgi4 |
T |
A |
7: 30,760,047 (GRCm39) |
L81H |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,407,277 (GRCm39) |
E1888G |
probably damaging |
Het |
Man2a1 |
C |
T |
17: 65,059,539 (GRCm39) |
T1142M |
probably damaging |
Het |
Mdfic2 |
T |
A |
6: 98,215,242 (GRCm39) |
D127V |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,721,732 (GRCm39) |
Y350F |
probably damaging |
Het |
Miga1 |
T |
C |
3: 151,996,137 (GRCm39) |
D351G |
probably damaging |
Het |
Mro |
A |
G |
18: 74,006,385 (GRCm39) |
T111A |
probably benign |
Het |
Mtrr |
A |
T |
13: 68,714,326 (GRCm39) |
V471E |
probably damaging |
Het |
Myh3 |
C |
A |
11: 66,987,708 (GRCm39) |
L1394I |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,458,247 (GRCm39) |
F2115S |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,072,376 (GRCm39) |
M489K |
possibly damaging |
Het |
Or12j5 |
A |
C |
7: 140,084,099 (GRCm39) |
I91R |
probably damaging |
Het |
Or14j7 |
A |
G |
17: 38,235,284 (GRCm39) |
I276V |
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,266,201 (GRCm39) |
I212F |
probably benign |
Het |
Or4c122 |
T |
C |
2: 89,079,031 (GRCm39) |
|
probably null |
Het |
Or4k44 |
C |
T |
2: 111,367,909 (GRCm39) |
A242T |
possibly damaging |
Het |
Orc2 |
A |
G |
1: 58,508,906 (GRCm39) |
S462P |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,125,706 (GRCm39) |
T155A |
probably benign |
Het |
Pcdhb16 |
G |
A |
18: 37,611,177 (GRCm39) |
V46I |
possibly damaging |
Het |
Pcdhb22 |
A |
G |
18: 37,653,311 (GRCm39) |
D336G |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,626,646 (GRCm39) |
R1297S |
probably damaging |
Het |
Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,049,928 (GRCm39) |
M531T |
possibly damaging |
Het |
Poc5 |
T |
C |
13: 96,531,033 (GRCm39) |
V77A |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,819,027 (GRCm39) |
R180C |
probably damaging |
Het |
Rho |
C |
A |
6: 115,912,464 (GRCm39) |
Y268* |
probably null |
Het |
Riok1 |
A |
T |
13: 38,231,288 (GRCm39) |
H182L |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,398,548 (GRCm39) |
D273G |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,305,263 (GRCm39) |
Y213C |
probably benign |
Het |
Slc16a10 |
T |
C |
10: 39,952,951 (GRCm39) |
Y181C |
probably damaging |
Het |
Slc22a15 |
G |
A |
3: 101,771,897 (GRCm39) |
H401Y |
probably benign |
Het |
Slc5a5 |
C |
A |
8: 71,342,247 (GRCm39) |
R268L |
probably damaging |
Het |
Slc9a8 |
T |
C |
2: 167,316,051 (GRCm39) |
F576S |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,804,963 (GRCm39) |
E617G |
probably benign |
Het |
Spata31d1e |
A |
T |
13: 59,889,648 (GRCm39) |
L724* |
probably null |
Het |
Top1 |
T |
C |
2: 160,546,878 (GRCm39) |
I386T |
probably damaging |
Het |
Tor1aip1 |
G |
T |
1: 155,911,859 (GRCm39) |
D41E |
probably damaging |
Het |
Tsc22d4 |
G |
A |
5: 137,766,371 (GRCm39) |
R479Q |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,108,961 (GRCm39) |
T2191I |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,043 (GRCm39) |
D771E |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,192,464 (GRCm39) |
M14L |
probably benign |
Het |
Zc3h7a |
C |
T |
16: 10,966,378 (GRCm39) |
S583N |
probably damaging |
Het |
Zfp518b |
G |
A |
5: 38,840,122 (GRCm39) |
|
probably benign |
Het |
Zswim4 |
A |
G |
8: 84,955,478 (GRCm39) |
W314R |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTTGCATTCTCAGCTC -3'
(R):5'- ATTGTGCTGGCAACCCTGTG -3'
Sequencing Primer
(F):5'- AGTTGCATTCTCAGCTCTTCCAC -3'
(R):5'- TTGGGGACATCACAACTGTC -3'
|
Posted On |
2019-09-13 |