Incidental Mutation 'R4631:Myocd'
ID |
349213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
041896-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4631 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65069685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 798
(N798K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
AlphaFold |
Q8VIM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101042
AA Change: N718K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000098603 Gene: ENSMUSG00000020542 AA Change: N718K
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: N798K
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: N798K
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: N846K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: N846K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (84/84) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,165,270 (GRCm39) |
L368Q |
probably damaging |
Het |
Abcc2 |
C |
T |
19: 43,803,146 (GRCm39) |
P661S |
possibly damaging |
Het |
Adgre4 |
T |
G |
17: 56,121,305 (GRCm39) |
M457R |
probably null |
Het |
Ank |
C |
A |
15: 27,467,176 (GRCm39) |
F29L |
probably benign |
Het |
Arhgap20 |
T |
C |
9: 51,751,653 (GRCm39) |
|
probably benign |
Het |
Atf6 |
T |
C |
1: 170,574,766 (GRCm39) |
|
probably null |
Het |
Bhmt1b |
G |
A |
18: 87,774,525 (GRCm39) |
R16H |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,975,078 (GRCm39) |
F2079L |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,306,045 (GRCm39) |
*1122Q |
probably null |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,926,697 (GRCm39) |
Y558H |
probably benign |
Het |
Ctsm |
T |
A |
13: 61,685,510 (GRCm39) |
S301C |
probably null |
Het |
Dlc1 |
A |
C |
8: 37,404,712 (GRCm39) |
|
probably null |
Het |
Dlg2 |
A |
T |
7: 91,737,822 (GRCm39) |
I435F |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,402,099 (GRCm39) |
V3420A |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,420,140 (GRCm39) |
Y3813N |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,067,616 (GRCm39) |
M1181T |
probably damaging |
Het |
Drc3 |
C |
A |
11: 60,255,734 (GRCm39) |
T107N |
probably benign |
Het |
Dydc2 |
T |
C |
14: 40,771,286 (GRCm39) |
E131G |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,080,828 (GRCm39) |
V723A |
probably damaging |
Het |
Fndc9 |
C |
A |
11: 46,128,675 (GRCm39) |
H65N |
possibly damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Gps1 |
T |
A |
11: 120,679,065 (GRCm39) |
|
probably null |
Het |
Gvin3 |
A |
G |
7: 106,198,730 (GRCm39) |
|
noncoding transcript |
Het |
Kazn |
G |
A |
4: 141,845,471 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnip1 |
T |
A |
11: 33,942,821 (GRCm39) |
|
noncoding transcript |
Het |
Kif19a |
A |
G |
11: 114,675,673 (GRCm39) |
I382V |
possibly damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Malsu1 |
A |
T |
6: 49,061,467 (GRCm39) |
E177V |
probably damaging |
Het |
Man2a2 |
A |
G |
7: 80,012,211 (GRCm39) |
F649L |
probably benign |
Het |
Map3k11 |
A |
G |
19: 5,740,941 (GRCm39) |
I223V |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh9 |
T |
G |
15: 77,681,228 (GRCm39) |
D164A |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,556,984 (GRCm39) |
I1040T |
probably damaging |
Het |
Myo18b |
C |
T |
5: 112,994,266 (GRCm39) |
A896T |
probably damaging |
Het |
Or13c7b |
T |
C |
4: 43,820,563 (GRCm39) |
D266G |
probably benign |
Het |
Or1n1b |
T |
G |
2: 36,780,630 (GRCm39) |
T77P |
probably benign |
Het |
Or2l13b |
G |
A |
16: 19,348,891 (GRCm39) |
R260* |
probably null |
Het |
Or4c11 |
C |
T |
2: 88,695,174 (GRCm39) |
T75I |
probably benign |
Het |
Or4g7 |
T |
A |
2: 111,309,908 (GRCm39) |
W260R |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,426,682 (GRCm39) |
L290Q |
probably damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,636 (GRCm39) |
I11F |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,890 (GRCm39) |
I142F |
probably damaging |
Het |
Pcyox1 |
T |
C |
6: 86,366,212 (GRCm39) |
E334G |
possibly damaging |
Het |
Pcyox1 |
T |
C |
6: 86,366,125 (GRCm39) |
D363G |
probably benign |
Het |
Pgm2 |
A |
G |
5: 64,263,290 (GRCm39) |
|
probably null |
Het |
Plagl1 |
T |
G |
10: 13,003,743 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 4,906,537 (GRCm39) |
D364G |
possibly damaging |
Het |
Rab2b |
T |
A |
14: 52,503,699 (GRCm39) |
H141L |
possibly damaging |
Het |
Rev3l |
A |
G |
10: 39,704,412 (GRCm39) |
K279E |
probably benign |
Het |
Rnf111 |
G |
T |
9: 70,357,678 (GRCm39) |
T607N |
probably benign |
Het |
Scn8a |
C |
A |
15: 100,914,384 (GRCm39) |
S1130* |
probably null |
Het |
Selenbp1 |
A |
G |
3: 94,851,879 (GRCm39) |
*473W |
probably null |
Het |
Sh3bp4 |
A |
C |
1: 89,071,995 (GRCm39) |
D281A |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,486,314 (GRCm39) |
|
probably null |
Het |
Slc1a4 |
A |
G |
11: 20,258,452 (GRCm39) |
L249P |
probably damaging |
Het |
Slc45a2 |
T |
A |
15: 11,012,662 (GRCm39) |
S222T |
probably benign |
Het |
Slc7a4 |
A |
G |
16: 17,392,255 (GRCm39) |
F393S |
probably damaging |
Het |
Slc9a2 |
A |
T |
1: 40,801,078 (GRCm39) |
D536V |
possibly damaging |
Het |
Stra6 |
T |
A |
9: 58,048,115 (GRCm39) |
|
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,007,250 (GRCm39) |
D156G |
probably benign |
Het |
Tns3 |
A |
C |
11: 8,401,119 (GRCm39) |
F1060V |
probably benign |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Trappc8 |
A |
G |
18: 21,000,865 (GRCm39) |
S273P |
probably benign |
Het |
Trmt11 |
A |
G |
10: 30,435,200 (GRCm39) |
S320P |
probably benign |
Het |
Ugt1a6a |
A |
T |
1: 88,066,980 (GRCm39) |
Y262F |
probably benign |
Het |
Vmn1r73 |
G |
A |
7: 11,490,758 (GRCm39) |
C192Y |
probably benign |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Vmn2r25 |
T |
A |
6: 123,829,962 (GRCm39) |
D63V |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,646,278 (GRCm39) |
H1461Y |
possibly damaging |
Het |
Ythdc2 |
A |
T |
18: 45,020,698 (GRCm39) |
E1427D |
probably benign |
Het |
Zbed6 |
A |
T |
1: 133,586,482 (GRCm39) |
V285E |
probably damaging |
Het |
Zbtb26 |
A |
G |
2: 37,326,968 (GRCm39) |
F23L |
probably benign |
Het |
Zfp62 |
T |
A |
11: 49,108,632 (GRCm39) |
*908R |
probably null |
Het |
Zfp975 |
A |
T |
7: 42,312,369 (GRCm39) |
N81K |
probably benign |
Het |
Zkscan16 |
G |
A |
4: 58,951,918 (GRCm39) |
V198M |
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 |
|
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 |
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'- GAGGTGACAACTGTGCATGC -3'
(R):5'- GTGACTTCACAATTCATGCTGTGC -3'
Sequencing Primer
(F):5'- TGACAACTGTGCATGCATCGG -3'
(R):5'- GCTGTGCTTTGCCAACAGAAATG -3'
|
Posted On |
2015-10-08 |