Incidental Mutation 'R8345:Myocd'
ID |
645184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
067801-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8345 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 65077958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 612
(C612*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
AlphaFold |
Q8VIM5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000101042
AA Change: C484*
|
SMART Domains |
Protein: ENSMUSP00000098603 Gene: ENSMUSG00000020542 AA Change: C484*
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 null
Transcript: ENSMUST00000102635
AA Change: C612*
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: C612*
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 null
Transcript: ENSMUST00000108695
AA Change: C612*
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: C612*
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,508,284 (GRCm39) |
V260A |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,251,505 (GRCm39) |
D6204G |
probably damaging |
Het |
Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
Aspm |
T |
G |
1: 139,392,011 (GRCm39) |
Y787* |
probably null |
Het |
Atp8b5 |
A |
C |
4: 43,291,714 (GRCm39) |
D29A |
probably benign |
Het |
Bdh2 |
A |
T |
3: 135,001,013 (GRCm39) |
I128F |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,136,126 (GRCm39) |
M69K |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,525,245 (GRCm39) |
M1415I |
probably benign |
Het |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Cdc23 |
G |
A |
18: 34,767,150 (GRCm39) |
T564I |
probably benign |
Het |
Cemip |
T |
A |
7: 83,591,373 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
Clec2m |
T |
A |
6: 129,302,593 (GRCm39) |
N145Y |
probably damaging |
Het |
Cpsf1 |
T |
A |
15: 76,485,690 (GRCm39) |
T435S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,504,477 (GRCm39) |
T879A |
possibly damaging |
Het |
Diaph3 |
G |
A |
14: 87,066,529 (GRCm39) |
Q955* |
probably null |
Het |
Disp2 |
G |
A |
2: 118,641,284 (GRCm39) |
V298M |
unknown |
Het |
Dnah1 |
C |
A |
14: 30,986,551 (GRCm39) |
D3671Y |
probably damaging |
Het |
Dnmt3a |
T |
C |
12: 3,885,234 (GRCm39) |
S13P |
unknown |
Het |
Eci3 |
G |
A |
13: 35,132,164 (GRCm39) |
T228I |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,674,276 (GRCm39) |
L232P |
probably benign |
Het |
Ednra |
G |
A |
8: 78,415,813 (GRCm39) |
R145C |
probably damaging |
Het |
Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,054 (GRCm39) |
I275K |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,910,570 (GRCm39) |
V1811L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,191,503 (GRCm39) |
C1540Y |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,854,785 (GRCm39) |
V1804M |
probably damaging |
Het |
Ffar3 |
A |
G |
7: 30,554,789 (GRCm39) |
L177P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,077,440 (GRCm39) |
T267A |
possibly damaging |
Het |
Fsip1 |
T |
C |
2: 118,070,952 (GRCm39) |
E246G |
probably damaging |
Het |
Gemin4 |
A |
G |
11: 76,101,605 (GRCm39) |
L1052P |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,723,746 (GRCm39) |
I679F |
probably damaging |
Het |
Hapln1 |
A |
T |
13: 89,732,902 (GRCm39) |
D21V |
probably benign |
Het |
Jak2 |
T |
C |
19: 29,262,270 (GRCm39) |
S364P |
probably damaging |
Het |
Kansl3 |
A |
G |
1: 36,387,897 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
C |
5: 123,924,993 (GRCm39) |
L1102S |
probably benign |
Het |
Mbd3l2 |
A |
G |
9: 18,355,779 (GRCm39) |
I35V |
probably benign |
Het |
Mdfic |
G |
T |
6: 15,799,653 (GRCm39) |
C260F |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,973,808 (GRCm39) |
S1109P |
probably benign |
Het |
Or4b13 |
A |
T |
2: 90,082,561 (GRCm39) |
M257K |
possibly damaging |
Het |
Or4c102 |
A |
G |
2: 88,422,435 (GRCm39) |
M96V |
probably benign |
Het |
Or4f17-ps1 |
T |
A |
2: 111,357,864 (GRCm39) |
C86* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,431 (GRCm39) |
M1K |
probably null |
Het |
Or5w22 |
A |
T |
2: 87,362,691 (GRCm39) |
T105S |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,451 (GRCm39) |
Y60N |
probably damaging |
Het |
Pard3 |
C |
T |
8: 128,050,549 (GRCm39) |
R204W |
probably damaging |
Het |
Per1 |
T |
A |
11: 68,998,382 (GRCm39) |
N1031K |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,055,105 (GRCm39) |
S583P |
unknown |
Het |
Pramel12 |
C |
T |
4: 143,143,438 (GRCm39) |
T68I |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,270,118 (GRCm39) |
C1268S |
possibly damaging |
Het |
Prpf6 |
T |
C |
2: 181,291,951 (GRCm39) |
I756T |
probably benign |
Het |
Pum2 |
T |
C |
12: 8,759,454 (GRCm39) |
V98A |
probably damaging |
Het |
Rad50 |
A |
T |
11: 53,574,968 (GRCm39) |
S652T |
probably benign |
Het |
Rfng |
G |
T |
11: 120,674,901 (GRCm39) |
P30T |
unknown |
Het |
Rfx7 |
T |
C |
9: 72,524,973 (GRCm39) |
I721T |
probably benign |
Het |
Rpf1 |
G |
T |
3: 146,213,431 (GRCm39) |
T240K |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,483,270 (GRCm39) |
N4189S |
probably benign |
Het |
Samd15 |
G |
C |
12: 87,248,212 (GRCm39) |
R299T |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,329,335 (GRCm39) |
M765T |
possibly damaging |
Het |
Scn9a |
G |
A |
2: 66,324,966 (GRCm39) |
S1396L |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,634,605 (GRCm39) |
R107Q |
probably benign |
Het |
Sema4b |
T |
A |
7: 79,870,567 (GRCm39) |
V505E |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,920,498 (GRCm39) |
T769S |
possibly damaging |
Het |
Sit1 |
T |
C |
4: 43,483,168 (GRCm39) |
E69G |
possibly damaging |
Het |
Slc12a8 |
C |
A |
16: 33,371,321 (GRCm39) |
D121E |
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,187,664 (GRCm39) |
Q135L |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,200 (GRCm39) |
V276A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
Tmed5 |
A |
G |
5: 108,273,823 (GRCm39) |
W139R |
probably damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,256 (GRCm39) |
I326K |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,256,601 (GRCm39) |
S421P |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,076,968 (GRCm39) |
N399K |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,127 (GRCm39) |
L229* |
probably null |
Het |
Vwf |
A |
T |
6: 125,656,265 (GRCm39) |
D2610V |
|
Het |
Zfp646 |
C |
T |
7: 127,483,082 (GRCm39) |
S1753L |
probably benign |
Het |
Zfy2 |
C |
A |
Y: 2,107,096 (GRCm39) |
V513F |
possibly damaging |
Het |
Zranb2 |
A |
T |
3: 157,251,731 (GRCm39) |
I317F |
unknown |
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 |
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'- CTATAGGAGCTTACCTGTGCGC -3'
(R):5'- GAGCTGAGAATGCAACTGC -3'
Sequencing Primer
(F):5'- CTGCTGCTGGGTGAAGAGAC -3'
(R):5'- CAGAAGCAGAAGAGCAGCTG -3'
|
Posted On |
2020-09-02 |