Incidental Mutation 'R7718:Myocd'
ID |
595058 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myocd
|
Ensembl Gene |
ENSMUSG00000020542 |
Gene Name |
myocardin |
Synonyms |
Srfcp |
MMRRC Submission |
045775-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7718 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65109452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
AlphaFold |
Q8VIM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101042
|
SMART Domains |
Protein: ENSMUSP00000098603 Gene: ENSMUSG00000020542
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: D106E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099695 Gene: ENSMUSG00000020542 AA Change: D106E
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: D106E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104335 Gene: ENSMUSG00000020542 AA Change: D106E
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 |
99% (77/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
T |
5: 138,646,122 (GRCm39) |
H669L |
possibly damaging |
Het |
Abcb1a |
A |
T |
5: 8,765,788 (GRCm39) |
N700I |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,626,816 (GRCm39) |
K1414E |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,100,785 (GRCm39) |
V779A |
probably benign |
Het |
Agap2 |
A |
G |
10: 126,915,734 (GRCm39) |
S82G |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,305 (GRCm39) |
N864S |
probably damaging |
Het |
Ang2 |
A |
T |
14: 51,433,217 (GRCm39) |
V55E |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,758,662 (GRCm39) |
M179T |
possibly damaging |
Het |
Atrnl1 |
T |
A |
19: 57,728,615 (GRCm39) |
C1090* |
probably null |
Het |
Atxn1l |
A |
G |
8: 110,459,866 (GRCm39) |
L132P |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,972,282 (GRCm39) |
V862A |
possibly damaging |
Het |
Capn11 |
C |
A |
17: 45,954,707 (GRCm39) |
K143N |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,129,269 (GRCm39) |
V709A |
possibly damaging |
Het |
Cavin4 |
C |
T |
4: 48,671,984 (GRCm39) |
A143V |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,984,133 (GRCm39) |
I160T |
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,782 (GRCm39) |
N511Y |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,835 (GRCm39) |
I480N |
probably damaging |
Het |
Elf2 |
G |
T |
3: 51,173,385 (GRCm39) |
|
probably benign |
Het |
Enoph1 |
T |
C |
5: 100,210,019 (GRCm39) |
V133A |
possibly damaging |
Het |
Ezh2 |
A |
T |
6: 47,531,125 (GRCm39) |
D186E |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,626 (GRCm39) |
F1106S |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,441,889 (GRCm39) |
D14G |
possibly damaging |
Het |
Gmip |
C |
T |
8: 70,270,383 (GRCm39) |
R698W |
probably damaging |
Het |
Grk4 |
A |
G |
5: 34,852,160 (GRCm39) |
N135D |
probably benign |
Het |
Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
Htatip2 |
T |
G |
7: 49,420,632 (GRCm39) |
H159Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,774 (GRCm39) |
E1264G |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,352,539 (GRCm39) |
S194P |
probably benign |
Het |
Katnb1 |
T |
A |
8: 95,821,836 (GRCm39) |
V223E |
possibly damaging |
Het |
Klra6 |
AGG |
AG |
6: 129,990,315 (GRCm39) |
|
probably null |
Het |
Masp2 |
C |
T |
4: 148,687,204 (GRCm39) |
R29C |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,887,498 (GRCm39) |
C123* |
probably null |
Het |
Mdn1 |
T |
C |
4: 32,718,420 (GRCm39) |
V2225A |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,953 (GRCm39) |
L44S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,577 (GRCm39) |
N380S |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,728 (GRCm39) |
T153A |
unknown |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Oat |
T |
C |
7: 132,159,988 (GRCm39) |
I411V |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,727,925 (GRCm39) |
V225D |
probably damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,855 (GRCm39) |
V113A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,373 (GRCm39) |
V143A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,519,476 (GRCm39) |
H246Q |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,059,100 (GRCm39) |
E411G |
probably damaging |
Het |
Patl2 |
A |
T |
2: 121,957,255 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
A |
G |
18: 37,608,216 (GRCm39) |
N483D |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,704 (GRCm39) |
D410G |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,465,846 (GRCm39) |
C125R |
probably damaging |
Het |
Peli3 |
C |
G |
19: 4,984,584 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,805,474 (GRCm39) |
D3313G |
probably benign |
Het |
Plec |
A |
C |
15: 76,061,639 (GRCm39) |
M2766R |
probably damaging |
Het |
Ppargc1a |
C |
T |
5: 51,655,504 (GRCm39) |
V99M |
probably damaging |
Het |
Prr35 |
T |
A |
17: 26,165,998 (GRCm39) |
R430* |
probably null |
Het |
Psg19 |
G |
A |
7: 18,526,368 (GRCm39) |
A374V |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,313,261 (GRCm39) |
F54L |
possibly damaging |
Het |
Ptbp2 |
C |
T |
3: 119,514,637 (GRCm39) |
G397R |
probably null |
Het |
Ranbp3 |
A |
G |
17: 57,003,718 (GRCm39) |
D39G |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,786,021 (GRCm39) |
T406A |
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
Rpia |
A |
T |
6: 70,743,602 (GRCm39) |
M283K |
probably damaging |
Het |
Rps6kc1 |
T |
C |
1: 190,604,022 (GRCm39) |
D200G |
probably benign |
Het |
Sipa1l1 |
A |
T |
12: 82,389,271 (GRCm39) |
K499M |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,906,407 (GRCm39) |
L404P |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spmip4 |
G |
A |
6: 50,566,078 (GRCm39) |
|
probably null |
Het |
St7 |
A |
C |
6: 17,854,998 (GRCm39) |
T312P |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,515,294 (GRCm39) |
E244G |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,416,061 (GRCm39) |
T871P |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,141,049 (GRCm39) |
I286N |
probably damaging |
Het |
Tead3 |
C |
A |
17: 28,552,491 (GRCm39) |
V327F |
probably damaging |
Het |
Tmem132c |
A |
T |
5: 127,640,504 (GRCm39) |
T892S |
probably benign |
Het |
Trmt2a |
T |
C |
16: 18,068,487 (GRCm39) |
S65P |
probably benign |
Het |
Ubp1 |
A |
G |
9: 113,802,597 (GRCm39) |
N479S |
possibly damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,527 (GRCm39) |
L18F |
possibly damaging |
Het |
Uevld |
T |
G |
7: 46,587,804 (GRCm39) |
M299L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,173,854 (GRCm39) |
Y1561N |
unknown |
Het |
Ylpm1 |
A |
G |
12: 85,075,896 (GRCm39) |
K874E |
probably damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,802 (GRCm39) |
R168W |
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 |
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 |
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'- AGAACAAAATCCCTGGATTGCC -3'
(R):5'- CCTGTGAAGTGATGATGCTCAC -3'
Sequencing Primer
(F):5'- TGGATTGCCAGAGCTGC -3'
(R):5'- TTATCAAAATGGTAGAGCGTGGTG -3'
|
Posted On |
2019-11-12 |