Incidental Mutation 'R1167:Myocd'
ID |
101169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
039240-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1167 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 65087203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 113
(D113E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
AlphaFold |
Q8VIM5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101042
AA Change: D113E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000098603 Gene: ENSMUSG00000020542 AA Change: D113E
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: D241E
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: D241E
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: D241E
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: D241E
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: D115E
|
SMART Domains |
Protein: ENSMUSP00000115572 Gene: ENSMUSG00000020542 AA Change: D115E
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: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,643,003 (GRCm39) |
D315V |
probably damaging |
Het |
Acr |
T |
C |
15: 89,458,177 (GRCm39) |
I286T |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,026,420 (GRCm39) |
S292P |
probably benign |
Het |
Apol6 |
T |
A |
15: 76,931,308 (GRCm39) |
Y17* |
probably null |
Het |
Arhgap22 |
A |
G |
14: 33,065,264 (GRCm39) |
|
probably null |
Het |
Bfar |
A |
G |
16: 13,516,758 (GRCm39) |
K202E |
possibly damaging |
Het |
Bmpr2 |
A |
T |
1: 59,898,463 (GRCm39) |
S470C |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,772,484 (GRCm39) |
E623G |
probably damaging |
Het |
Clcn3 |
A |
G |
8: 61,375,822 (GRCm39) |
|
probably null |
Het |
Clptm1 |
A |
T |
7: 19,368,136 (GRCm39) |
M523K |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,561,312 (GRCm39) |
W117R |
probably damaging |
Het |
Dnmt3c |
T |
G |
2: 153,553,701 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,262,939 (GRCm39) |
E2212G |
probably damaging |
Het |
Edrf1 |
A |
G |
7: 133,245,795 (GRCm39) |
T238A |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,369,625 (GRCm39) |
V10A |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,606,079 (GRCm39) |
S225P |
possibly damaging |
Het |
Fem1al |
C |
T |
11: 29,773,567 (GRCm39) |
R630H |
probably damaging |
Het |
Fes |
A |
T |
7: 80,032,857 (GRCm39) |
L296Q |
probably damaging |
Het |
Foxn1 |
A |
T |
11: 78,249,892 (GRCm39) |
N544K |
probably damaging |
Het |
Gga1 |
C |
G |
15: 78,772,370 (GRCm39) |
N223K |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm4884 |
A |
T |
7: 40,693,336 (GRCm39) |
Q435L |
possibly damaging |
Het |
Gm8444 |
T |
C |
15: 81,727,581 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
G |
17: 25,254,719 (GRCm39) |
S131A |
probably benign |
Het |
Ipo4 |
A |
G |
14: 55,872,477 (GRCm39) |
L88P |
probably damaging |
Het |
Itgal |
G |
A |
7: 126,900,111 (GRCm39) |
S123N |
probably damaging |
Het |
Kcnn3 |
C |
T |
3: 89,472,259 (GRCm39) |
Q344* |
probably null |
Het |
Lrrc8e |
A |
T |
8: 4,285,337 (GRCm39) |
M521L |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,696,302 (GRCm39) |
R499H |
possibly damaging |
Het |
Notch3 |
T |
C |
17: 32,341,719 (GRCm39) |
D2011G |
possibly damaging |
Het |
Ola1 |
A |
G |
2: 72,927,538 (GRCm39) |
V347A |
probably damaging |
Het |
Or13p5 |
C |
A |
4: 118,591,829 (GRCm39) |
F34L |
possibly damaging |
Het |
Or6c75 |
G |
A |
10: 129,337,019 (GRCm39) |
V89I |
probably benign |
Het |
Or8u10 |
A |
G |
2: 85,915,635 (GRCm39) |
V162A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,011,378 (GRCm39) |
T433A |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,552 (GRCm39) |
R312G |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,772,099 (GRCm39) |
N398D |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,208,996 (GRCm39) |
Y160H |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pop4 |
A |
T |
7: 37,962,693 (GRCm39) |
D190E |
probably benign |
Het |
Prb1c |
G |
A |
6: 132,338,553 (GRCm39) |
P222S |
unknown |
Het |
R3hdm4 |
A |
G |
10: 79,747,907 (GRCm39) |
|
probably null |
Het |
Rab1a |
C |
A |
11: 20,173,172 (GRCm39) |
T91K |
possibly damaging |
Het |
Rad9a |
A |
G |
19: 4,247,501 (GRCm39) |
V215A |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,252,159 (GRCm39) |
V84A |
probably damaging |
Het |
Rftn2 |
G |
A |
1: 55,243,458 (GRCm39) |
T270M |
probably damaging |
Het |
Rho |
A |
G |
6: 115,912,384 (GRCm39) |
T100A |
probably damaging |
Het |
Rnft2 |
T |
C |
5: 118,366,947 (GRCm39) |
I264V |
possibly damaging |
Het |
Robo3 |
A |
T |
9: 37,335,203 (GRCm39) |
Y567* |
probably null |
Het |
Rpp14 |
T |
A |
14: 8,083,705 (GRCm38) |
|
probably null |
Het |
Rtkn2 |
T |
C |
10: 67,833,450 (GRCm39) |
S98P |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,674,999 (GRCm39) |
V3376A |
possibly damaging |
Het |
Sbf2 |
A |
T |
7: 109,963,756 (GRCm39) |
W1030R |
probably damaging |
Het |
Setbp1 |
G |
A |
18: 78,900,451 (GRCm39) |
A1072V |
possibly damaging |
Het |
Slc4a10 |
A |
G |
2: 62,058,918 (GRCm39) |
K142E |
probably damaging |
Het |
Slc52a2 |
A |
G |
15: 76,423,791 (GRCm39) |
E40G |
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,891,312 (GRCm39) |
N784S |
possibly damaging |
Het |
Spats2l |
A |
T |
1: 57,982,270 (GRCm39) |
Q384L |
probably damaging |
Het |
Steap4 |
A |
C |
5: 8,026,520 (GRCm39) |
K161T |
probably benign |
Het |
Taf10 |
T |
C |
7: 105,392,438 (GRCm39) |
S188G |
probably benign |
Het |
Tbc1d4 |
C |
T |
14: 101,845,455 (GRCm39) |
D148N |
probably damaging |
Het |
Tenm2 |
T |
G |
11: 36,755,511 (GRCm39) |
K162N |
probably benign |
Het |
Tmem147 |
A |
G |
7: 30,427,221 (GRCm39) |
V146A |
probably benign |
Het |
Tnfsf8 |
A |
G |
4: 63,755,323 (GRCm39) |
S100P |
possibly damaging |
Het |
Trim56 |
T |
C |
5: 137,141,374 (GRCm39) |
Y714C |
probably damaging |
Het |
Ubxn8 |
A |
G |
8: 34,131,929 (GRCm39) |
S13P |
probably damaging |
Het |
Usp49 |
A |
G |
17: 47,983,151 (GRCm39) |
D52G |
possibly damaging |
Het |
Vegfc |
A |
C |
8: 54,639,078 (GRCm39) |
Y408S |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,954 (GRCm39) |
N280S |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,951,042 (GRCm39) |
L134F |
probably benign |
Het |
Wdfy3 |
T |
A |
5: 102,023,797 (GRCm39) |
I2437F |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,311,814 (GRCm39) |
L783* |
probably null |
Het |
Zer1 |
C |
T |
2: 29,998,258 (GRCm39) |
R351H |
probably benign |
Het |
Zfp715 |
A |
T |
7: 42,947,861 (GRCm39) |
F700I |
possibly damaging |
Het |
Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |