Incidental Mutation 'R2314:Myocd'
| ID |
245427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65091633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 103
(H103R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
| AlphaFold |
Q8VIM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101042
AA Change: H103R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: H103R
| 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: H231R
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: H231R
| 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: H231R
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: H231R
| 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 |
unknown
Transcript: ENSMUST00000144399
AA Change: H105R
|
| SMART Domains |
Protein: ENSMUSP00000115572
Gene: ENSMUSG00000020542
AA Change: H105R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,322 (GRCm39) |
S39P |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Anxa6 |
T |
A |
11: 54,902,561 (GRCm39) |
I58F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,763 (GRCm39) |
K582* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,227,976 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,427,676 (GRCm39) |
D473V |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,969,175 (GRCm39) |
C550S |
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dolk |
G |
T |
2: 30,175,497 (GRCm39) |
L183M |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,873,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,164,211 (GRCm39) |
C890* |
probably null |
Het |
| Epha2 |
T |
A |
4: 141,046,325 (GRCm39) |
V508E |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Fgfr1 |
C |
T |
8: 26,060,909 (GRCm39) |
S527F |
probably damaging |
Het |
| Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
| Gm21834 |
A |
T |
17: 58,049,210 (GRCm39) |
V2E |
possibly damaging |
Het |
| Gm7853 |
A |
T |
14: 35,811,621 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
T |
A |
17: 12,934,830 (GRCm39) |
H713L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,023,338 (GRCm39) |
V543A |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,549,595 (GRCm39) |
|
probably null |
Het |
| Lsm1 |
C |
T |
8: 26,275,712 (GRCm39) |
P5S |
possibly damaging |
Het |
| Marchf1 |
T |
C |
8: 66,574,442 (GRCm39) |
M1T |
probably null |
Het |
| Myom2 |
C |
T |
8: 15,113,927 (GRCm39) |
T25I |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,380,003 (GRCm39) |
K83E |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
| Onecut2 |
G |
T |
18: 64,474,268 (GRCm39) |
R254L |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,436 (GRCm39) |
M158L |
probably benign |
Het |
| Plxna1 |
A |
C |
6: 89,301,298 (GRCm39) |
L1534R |
probably damaging |
Het |
| Polb |
C |
A |
8: 23,130,018 (GRCm39) |
A185S |
possibly damaging |
Het |
| Pou3f3 |
T |
C |
1: 42,737,651 (GRCm39) |
V449A |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,145 (GRCm39) |
T275I |
probably damaging |
Het |
| Rab18 |
C |
A |
18: 6,788,516 (GRCm39) |
A161D |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,011 (GRCm39) |
R164G |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,445,208 (GRCm39) |
I2418K |
probably benign |
Het |
| Scrn1 |
T |
C |
6: 54,502,631 (GRCm39) |
E136G |
probably benign |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,989,387 (GRCm39) |
A107T |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,723,783 (GRCm39) |
S466G |
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,795 (GRCm39) |
F451Y |
probably damaging |
Het |
| Tnks1bp1 |
G |
A |
2: 84,889,259 (GRCm39) |
V529M |
probably benign |
Het |
| Trps1 |
T |
C |
15: 50,524,742 (GRCm39) |
K874E |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,368 (GRCm39) |
Y20182H |
probably damaging |
Het |
| Ufc1 |
A |
T |
1: 171,116,821 (GRCm39) |
C116S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,976 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zfp81 |
A |
G |
17: 33,553,597 (GRCm39) |
Y406H |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATATACCCAGTACCGACAGG -3'
(R):5'- TTCAGCTGAATGATGCAGCAG -3'
Sequencing Primer
(F):5'- ATGTGCATGGATGACACGTGC -3'
(R):5'- GCTGAATGATGCAGCAGCTCTATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation