Incidental Mutation 'IGL02598:Myocd'
| ID |
299933 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65074296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 738
(S738P)
|
| 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: S610P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: S610P
| 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: S690P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: S690P
| 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: S738P
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: S738P
| 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
|
| Coding Region Coverage |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
T |
11: 50,834,448 (GRCm39) |
M1K |
probably null |
Het |
| Abca13 |
C |
T |
11: 9,381,898 (GRCm39) |
T3850I |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,905,781 (GRCm39) |
L95* |
probably null |
Het |
| Acacb |
A |
G |
5: 114,384,098 (GRCm39) |
Y2209C |
probably damaging |
Het |
| Acadm |
A |
G |
3: 153,644,181 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,269,417 (GRCm39) |
V1177M |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,840,099 (GRCm39) |
|
probably null |
Het |
| Catsperd |
A |
G |
17: 56,954,815 (GRCm39) |
|
probably null |
Het |
| Cd28 |
A |
G |
1: 60,802,498 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,682,002 (GRCm39) |
Y1934H |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,713 (GRCm39) |
I2377V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,533,086 (GRCm39) |
K1581E |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,458,847 (GRCm39) |
N232I |
probably damaging |
Het |
| Dyrk4 |
G |
A |
6: 126,860,982 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,631 (GRCm39) |
C75* |
probably null |
Het |
| Elovl1 |
T |
C |
4: 118,288,616 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
G |
7: 140,934,849 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,744,872 (GRCm39) |
V460E |
probably damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,182 (GRCm39) |
S35P |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,762,568 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,281 (GRCm39) |
V374A |
probably damaging |
Het |
| Kics2 |
G |
A |
10: 121,575,876 (GRCm39) |
|
probably benign |
Het |
| Lars1 |
A |
G |
18: 42,360,342 (GRCm39) |
S705P |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,871 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
C |
9: 123,345,933 (GRCm39) |
S571P |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,236 (GRCm39) |
Y312N |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,296,622 (GRCm39) |
D125E |
possibly damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,442,564 (GRCm39) |
S416P |
probably damaging |
Het |
| Map7d3 |
T |
C |
X: 55,855,146 (GRCm39) |
T446A |
probably benign |
Het |
| Masp1 |
T |
A |
16: 23,278,381 (GRCm39) |
M523L |
probably benign |
Het |
| Mroh4 |
C |
A |
15: 74,483,092 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,537,953 (GRCm39) |
A651T |
probably damaging |
Het |
| Or10a2 |
A |
T |
7: 106,673,923 (GRCm39) |
N296I |
possibly damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,861 (GRCm39) |
F308L |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,163 (GRCm39) |
V134A |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,595 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,142 (GRCm39) |
I256N |
possibly damaging |
Het |
| Parg |
G |
T |
14: 31,936,281 (GRCm39) |
V479L |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,546,834 (GRCm39) |
H637N |
possibly damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,059,900 (GRCm39) |
T1118I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,501,355 (GRCm39) |
E400G |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,337 (GRCm39) |
V81F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,464,420 (GRCm39) |
L1369P |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,735,128 (GRCm39) |
|
probably benign |
Het |
| Rgs6 |
C |
T |
12: 83,138,571 (GRCm39) |
P302S |
probably benign |
Het |
| Rnf148 |
A |
C |
6: 23,654,456 (GRCm39) |
I180S |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,408,061 (GRCm39) |
D350G |
probably benign |
Het |
| Slc33a1 |
C |
T |
3: 63,850,753 (GRCm39) |
G524S |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,591,221 (GRCm39) |
V237A |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,356 (GRCm39) |
D56G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,303,063 (GRCm39) |
S31P |
probably damaging |
Het |
| Tesl1 |
A |
T |
X: 23,773,710 (GRCm39) |
T404S |
probably benign |
Het |
| Thrb |
C |
A |
14: 18,008,606 (GRCm38) |
P110Q |
possibly damaging |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,879 (GRCm39) |
T506K |
probably benign |
Het |
| Vps45 |
A |
G |
3: 95,938,354 (GRCm39) |
L486P |
probably benign |
Het |
| Zan |
G |
A |
5: 137,444,473 (GRCm39) |
T1823M |
unknown |
Het |
| Zdhhc6 |
T |
A |
19: 55,302,959 (GRCm39) |
Q14L |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,533 (GRCm39) |
N177I |
possibly 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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation