Incidental Mutation 'R7956:Myocd'
ID |
649844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
046000-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7956 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65160494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 11
(L11M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102635]
[ENSMUST00000108695]
|
AlphaFold |
Q8VIM5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102635
AA Change: L11M
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: L11M
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 |
possibly damaging
Transcript: ENSMUST00000108695
AA Change: L11M
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: L11M
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (78/78) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
T |
C |
15: 84,834,963 (GRCm39) |
S332G |
possibly damaging |
Het |
Acaca |
A |
T |
11: 84,211,406 (GRCm39) |
N1573Y |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,662,477 (GRCm39) |
K220R |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,232,151 (GRCm39) |
D299V |
probably damaging |
Het |
Asic3 |
A |
C |
5: 24,621,975 (GRCm39) |
I412L |
possibly damaging |
Het |
AU018091 |
A |
T |
7: 3,211,095 (GRCm39) |
L278Q |
probably benign |
Het |
Baat |
A |
T |
4: 49,490,117 (GRCm39) |
F322L |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,977,525 (GRCm39) |
Q280R |
probably benign |
Het |
Bet1 |
T |
C |
6: 4,079,965 (GRCm39) |
E66G |
probably benign |
Het |
Brpf1 |
T |
C |
6: 113,297,493 (GRCm39) |
S1000P |
probably benign |
Het |
Ccdc78 |
A |
T |
17: 26,006,091 (GRCm39) |
E86D |
possibly damaging |
Het |
Ccdc88a |
T |
G |
11: 29,413,892 (GRCm39) |
L810R |
probably damaging |
Het |
Cd209f |
T |
C |
8: 4,154,859 (GRCm39) |
T80A |
probably benign |
Het |
Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
Cldn15 |
T |
C |
5: 137,003,504 (GRCm39) |
S169P |
probably damaging |
Het |
Cmklr2 |
T |
C |
1: 63,222,665 (GRCm39) |
N190S |
probably damaging |
Het |
Corin |
A |
G |
5: 72,579,530 (GRCm39) |
S281P |
probably damaging |
Het |
Coro1a |
A |
G |
7: 126,300,727 (GRCm39) |
V200A |
probably benign |
Het |
Crebrf |
C |
G |
17: 26,961,631 (GRCm39) |
P243A |
probably benign |
Het |
Cxxc1 |
T |
G |
18: 74,352,054 (GRCm39) |
|
probably null |
Het |
Dera |
C |
T |
6: 137,813,826 (GRCm39) |
T282M |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,430,427 (GRCm39) |
D345V |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,567,916 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,264,699 (GRCm39) |
V2623E |
probably damaging |
Het |
Dysf |
T |
C |
6: 83,985,978 (GRCm39) |
F28L |
probably benign |
Het |
Eogt |
C |
A |
6: 97,120,926 (GRCm39) |
V96F |
probably benign |
Het |
Exoc1 |
A |
T |
5: 76,705,704 (GRCm39) |
T464S |
probably benign |
Het |
Fam234a |
A |
G |
17: 26,435,551 (GRCm39) |
Y278H |
probably damaging |
Het |
Gatd3a |
T |
C |
10: 77,999,405 (GRCm39) |
|
probably null |
Het |
Gne |
T |
A |
4: 44,044,962 (GRCm39) |
I391L |
probably benign |
Het |
Gpr22 |
G |
T |
12: 31,759,219 (GRCm39) |
T301K |
possibly damaging |
Het |
Gria1 |
A |
G |
11: 57,080,626 (GRCm39) |
D203G |
possibly damaging |
Het |
Grin2c |
T |
C |
11: 115,140,974 (GRCm39) |
E1048G |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,751,456 (GRCm39) |
T361A |
unknown |
Het |
Herc2 |
T |
C |
7: 55,763,148 (GRCm39) |
S918P |
probably damaging |
Het |
Hr |
A |
G |
14: 70,797,327 (GRCm39) |
E520G |
probably benign |
Het |
Idi1 |
T |
G |
13: 8,937,996 (GRCm39) |
S147R |
possibly damaging |
Het |
Irf9 |
G |
A |
14: 55,846,481 (GRCm39) |
G464E |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,704,390 (GRCm39) |
Y63C |
probably benign |
Het |
Klhl31 |
A |
T |
9: 77,557,903 (GRCm39) |
E206D |
probably benign |
Het |
Lrch3 |
A |
G |
16: 32,806,377 (GRCm39) |
M454V |
probably null |
Het |
Lrp1b |
A |
C |
2: 41,172,161 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,815,788 (GRCm39) |
D1224G |
possibly damaging |
Het |
Maf1 |
T |
A |
15: 76,236,696 (GRCm39) |
F9L |
probably benign |
Het |
Mllt10 |
T |
A |
2: 18,175,068 (GRCm39) |
I542N |
probably benign |
Het |
Mrpl19 |
T |
C |
6: 81,940,962 (GRCm39) |
N143S |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,159,845 (GRCm39) |
N291S |
probably benign |
Het |
Or2ag2 |
G |
A |
7: 106,485,178 (GRCm39) |
T282I |
possibly damaging |
Het |
Or5ac20 |
C |
A |
16: 59,104,856 (GRCm39) |
M1I |
probably null |
Het |
Or5an10 |
A |
C |
19: 12,275,666 (GRCm39) |
F277V |
probably damaging |
Het |
Otogl |
T |
C |
10: 107,713,887 (GRCm39) |
I511V |
possibly damaging |
Het |
Phf19 |
T |
C |
2: 34,796,567 (GRCm39) |
Y121C |
possibly damaging |
Het |
Pik3c2a |
T |
C |
7: 115,949,350 (GRCm39) |
T1346A |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Polr2b |
A |
G |
5: 77,468,092 (GRCm39) |
T131A |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,412,815 (GRCm39) |
T456A |
unknown |
Het |
Pom121l2 |
T |
C |
13: 22,167,316 (GRCm39) |
L529S |
probably damaging |
Het |
Prss34 |
A |
G |
17: 25,518,553 (GRCm39) |
I214V |
probably benign |
Het |
Prss42 |
A |
G |
9: 110,628,402 (GRCm39) |
Y182C |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,589,027 (GRCm39) |
I223V |
probably benign |
Het |
Rbbp6 |
C |
T |
7: 122,600,561 (GRCm39) |
P1523S |
unknown |
Het |
Ripk1 |
T |
G |
13: 34,193,666 (GRCm39) |
N9K |
probably benign |
Het |
Six4 |
A |
G |
12: 73,150,535 (GRCm39) |
L670S |
possibly damaging |
Het |
Skint6 |
C |
T |
4: 112,703,894 (GRCm39) |
D994N |
possibly damaging |
Het |
Slc18a1 |
T |
C |
8: 69,491,466 (GRCm39) |
D516G |
probably benign |
Het |
Slc35g3 |
A |
T |
11: 69,651,623 (GRCm39) |
Y121N |
probably damaging |
Het |
Slc41a1 |
T |
G |
1: 131,771,766 (GRCm39) |
S393R |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,719,953 (GRCm39) |
H818R |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,900,655 (GRCm39) |
Y1686H |
probably damaging |
Het |
Stab1 |
G |
T |
14: 30,881,981 (GRCm39) |
T521K |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,535,852 (GRCm39) |
Y4036* |
probably null |
Het |
Tek |
T |
G |
4: 94,687,580 (GRCm39) |
|
probably null |
Het |
Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
Tgm1 |
T |
A |
14: 55,946,352 (GRCm39) |
H428L |
probably benign |
Het |
Tigd3 |
G |
A |
19: 5,942,594 (GRCm39) |
P179S |
possibly damaging |
Het |
Tnip3 |
T |
A |
6: 65,591,779 (GRCm39) |
|
probably null |
Het |
Ttc1 |
A |
G |
11: 43,627,240 (GRCm39) |
|
probably null |
Het |
Utp20 |
C |
T |
10: 88,618,476 (GRCm39) |
E1175K |
probably benign |
Het |
Vmn1r151 |
A |
T |
7: 22,199,085 (GRCm39) |
S7T |
possibly damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,777 (GRCm39) |
|
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,605,166 (GRCm39) |
M494K |
probably benign |
Het |
Vps26c |
T |
C |
16: 94,302,505 (GRCm39) |
N234D |
probably damaging |
Het |
Vsig10l |
T |
C |
7: 43,117,494 (GRCm39) |
S594P |
probably benign |
Het |
Zfp937 |
A |
G |
2: 150,081,076 (GRCm39) |
S369G |
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 |
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 |
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'- GGGAAGACATTTGAAGGCATTC -3'
(R):5'- TTAATTAGCCTCGCGAGCGG -3'
Sequencing Primer
(F):5'- GGCATTCAGTCAAACACAGTGTTC -3'
(R):5'- CAGTTTTCTGGGGACACTGGC -3'
|
Posted On |
2020-09-15 |