Incidental Mutation 'R8975:Myocd'
| ID |
683397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| MMRRC Submission |
068809-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65069287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 979
(H979L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
| AlphaFold |
Q8VIM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101042
AA Change: H851L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: H851L
| 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 damaging
Transcript: ENSMUST00000102635
AA Change: H931L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: H931L
| 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 damaging
Transcript: ENSMUST00000108695
AA Change: H979L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: H979L
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,192 (GRCm39) |
D47G |
probably damaging |
Het |
| 4930550C14Rik |
A |
T |
9: 53,334,258 (GRCm39) |
K167M |
possibly damaging |
Het |
| Abhd16b |
A |
G |
2: 181,135,806 (GRCm39) |
N236S |
probably benign |
Het |
| Ahnak |
T |
G |
19: 8,990,101 (GRCm39) |
V3795G |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,602,725 (GRCm39) |
M1606K |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,630,611 (GRCm39) |
I187K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cep290 |
A |
G |
10: 100,349,782 (GRCm39) |
N610D |
possibly damaging |
Het |
| Ctps1 |
C |
T |
4: 120,406,743 (GRCm39) |
D338N |
probably benign |
Het |
| Ctsz |
A |
T |
2: 174,275,421 (GRCm39) |
I118N |
probably benign |
Het |
| Depdc1b |
A |
G |
13: 108,525,094 (GRCm39) |
E483G |
probably null |
Het |
| Dhh |
T |
C |
15: 98,795,976 (GRCm39) |
S60G |
probably damaging |
Het |
| Dpagt1 |
T |
C |
9: 44,237,446 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,359,102 (GRCm39) |
K162R |
probably damaging |
Het |
| Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,871,783 (GRCm39) |
N162D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,954,415 (GRCm39) |
K5090E |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,776,829 (GRCm39) |
T1429S |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,456,897 (GRCm39) |
D1625G |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,283,477 (GRCm39) |
T484M |
possibly damaging |
Het |
| Hhat |
T |
C |
1: 192,431,250 (GRCm39) |
E33G |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,360 (GRCm39) |
D453G |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,335,628 (GRCm39) |
I2246N |
possibly damaging |
Het |
| Larp4b |
T |
G |
13: 9,195,537 (GRCm39) |
I212S |
probably damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,636 (GRCm39) |
V145A |
probably benign |
Het |
| Map1lc3a |
A |
G |
2: 155,118,926 (GRCm39) |
K30R |
possibly damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,215,166 (GRCm39) |
Y652H |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,780,334 (GRCm39) |
E994G |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,714 (GRCm39) |
D30V |
probably benign |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,129 (GRCm39) |
D1635G |
probably benign |
Het |
| Msantd5f6 |
A |
G |
4: 73,320,167 (GRCm39) |
L204P |
probably damaging |
Het |
| Mup3 |
A |
T |
4: 62,003,472 (GRCm39) |
D132E |
probably benign |
Het |
| Myo15b |
A |
T |
11: 115,781,780 (GRCm39) |
T2830S |
unknown |
Het |
| Nvl |
A |
T |
1: 180,958,001 (GRCm39) |
N260K |
probably benign |
Het |
| Or2a57 |
T |
A |
6: 43,213,056 (GRCm39) |
H171Q |
probably benign |
Het |
| Or2d2b |
T |
A |
7: 106,705,664 (GRCm39) |
T135S |
probably benign |
Het |
| Or4d2 |
T |
A |
11: 87,784,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,917,649 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
A |
C |
5: 20,969,249 (GRCm39) |
V687G |
probably damaging |
Het |
| Plagl2 |
C |
T |
2: 153,074,346 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ppp1r3e |
A |
G |
14: 55,113,946 (GRCm39) |
V242A |
probably benign |
Het |
| Proser3 |
A |
G |
7: 30,239,458 (GRCm39) |
S549P |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,533,630 (GRCm39) |
V995A |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,266 (GRCm39) |
H223R |
probably benign |
Het |
| Rsf1 |
CG |
CGTCGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,587,565 (GRCm39) |
E1393G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,612 (GRCm39) |
S1432T |
possibly damaging |
Het |
| Slc10a5 |
G |
C |
3: 10,399,670 (GRCm39) |
A330G |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,224,270 (GRCm39) |
N293H |
probably damaging |
Het |
| Spmap1 |
A |
T |
11: 97,663,572 (GRCm39) |
Y93N |
probably damaging |
Het |
| Spmip4 |
C |
T |
6: 50,561,391 (GRCm39) |
R176H |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,073,869 (GRCm39) |
E1400G |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,935,280 (GRCm39) |
I171F |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,161,945 (GRCm39) |
H5450Y |
probably benign |
Het |
| Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
| Tkt |
T |
A |
14: 30,288,884 (GRCm39) |
|
probably benign |
Het |
| Tpra1 |
A |
T |
6: 88,888,726 (GRCm39) |
M303L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,752,651 (GRCm39) |
S303P |
probably damaging |
Het |
| Uqcrc1 |
T |
C |
9: 108,776,721 (GRCm39) |
F341S |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,248 (GRCm39) |
S281P |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,189 (GRCm39) |
A196S |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,785,467 (GRCm39) |
T360N |
probably benign |
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 |
|
|
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'- TGGCATTCTTATTCTGACAAAGCAC -3'
(R):5'- AGCTGAGCTTCACGGAATC -3'
Sequencing Primer
(F):5'- GCACATTTTTGAATGCATCACTG -3'
(R):5'- TTCACGGAATCTCCTTGGGAAAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation