Incidental Mutation 'R9400:Myocd'
| ID |
711062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65086934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 331
(H331R)
|
| 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: H203R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: H203R
| 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: H331R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: H331R
| 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: H331R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: H331R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115572
Gene: ENSMUSG00000020542
AA Change: H205R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
195 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
G |
17: 9,211,118 (GRCm39) |
N89S |
probably benign |
Het |
| 9930111J21Rik1 |
C |
T |
11: 48,839,244 (GRCm39) |
E448K |
possibly damaging |
Het |
| Acer1 |
G |
A |
17: 57,288,990 (GRCm39) |
T40M |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,893 (GRCm39) |
T467A |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,476,981 (GRCm39) |
D129G |
probably damaging |
Het |
| Ak8 |
T |
A |
2: 28,650,011 (GRCm39) |
I346N |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,291,875 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,282 (GRCm39) |
L516R |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,075,855 (GRCm39) |
R402L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,641 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,319,844 (GRCm39) |
D380G |
|
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chst2 |
T |
C |
9: 95,287,642 (GRCm39) |
S235G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,616,953 (GRCm39) |
V899A |
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,273,703 (GRCm39) |
S617P |
probably damaging |
Het |
| Etv5 |
A |
T |
16: 22,220,476 (GRCm39) |
F304I |
probably benign |
Het |
| Fmo9 |
T |
G |
1: 166,505,243 (GRCm39) |
E50A |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,478,841 (GRCm39) |
E199G |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,028,541 (GRCm39) |
G893D |
probably damaging |
Het |
| Gorab |
G |
T |
1: 163,224,567 (GRCm39) |
P78Q |
probably damaging |
Het |
| Gprc5a |
A |
G |
6: 135,055,558 (GRCm39) |
T2A |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,275,683 (GRCm39) |
I581T |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,248 (GRCm39) |
F199S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,070,677 (GRCm39) |
V426E |
possibly damaging |
Het |
| Jag2 |
G |
T |
12: 112,875,608 (GRCm39) |
Y838* |
probably null |
Het |
| Kat6b |
G |
T |
14: 21,659,826 (GRCm39) |
R210L |
probably damaging |
Het |
| Kctd11 |
C |
A |
11: 69,770,544 (GRCm39) |
E165* |
probably null |
Het |
| Knl1 |
T |
C |
2: 118,931,224 (GRCm39) |
V1980A |
probably damaging |
Het |
| Lilrb4b |
T |
C |
10: 51,357,319 (GRCm39) |
S52P |
probably benign |
Het |
| Lrp5 |
T |
G |
19: 3,635,272 (GRCm39) |
M1535L |
probably benign |
Het |
| Lrr1 |
A |
G |
12: 69,221,476 (GRCm39) |
D206G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,899,677 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,502,025 (GRCm39) |
D241G |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,986,077 (GRCm39) |
Y237C |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,093 (GRCm39) |
E1489G |
possibly damaging |
Het |
| Myoz1 |
T |
A |
14: 20,699,504 (GRCm39) |
H278L |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,554 (GRCm39) |
C240* |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,376,807 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4c104 |
A |
G |
2: 88,586,293 (GRCm39) |
I242T |
possibly damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,274 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Or5b24 |
T |
A |
19: 12,912,878 (GRCm39) |
Y259N |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,540,863 (GRCm39) |
|
probably null |
Het |
| Pcdha1 |
A |
G |
18: 37,064,760 (GRCm39) |
I475V |
probably benign |
Het |
| Pcgf1 |
A |
G |
6: 83,057,066 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pip |
C |
A |
6: 41,828,782 (GRCm39) |
T109K |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,932,689 (GRCm39) |
E59G |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,053 (GRCm39) |
I237V |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,595,267 (GRCm39) |
V543A |
probably benign |
Het |
| Slc9a2 |
T |
C |
1: 40,758,211 (GRCm39) |
V250A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,050,214 (GRCm39) |
Y278H |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,630,863 (GRCm39) |
N248K |
probably benign |
Het |
| Spata6 |
T |
A |
4: 111,577,428 (GRCm39) |
C9S |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,885,293 (GRCm39) |
L587Q |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,830,293 (GRCm39) |
N916K |
possibly damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,385,516 (GRCm39) |
V319I |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,169,441 (GRCm39) |
I98K |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,215,367 (GRCm39) |
T1064A |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,175 (GRCm39) |
I332T |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,064 (GRCm39) |
L133Q |
probably damaging |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,687 (GRCm39) |
N167S |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,904 (GRCm39) |
C428S |
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 |
|
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 |
|
|
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'- GGACACTGGGGATTTTCTGC -3'
(R):5'- AGAAGGCAGAGAAGTCTCCC -3'
Sequencing Primer
(F):5'- TGCATATGCTGTCTAGATCACG -3'
(R):5'- GAAGTCTCCCCCACCCATGG -3'
|
| Posted On |
2022-04-20 |
Incidental Mutation