Incidental Mutation 'R0234:Myocd'
| ID |
66030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| MMRRC Submission |
038475-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0234 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65078066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 448
(D448E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
| AlphaFold |
Q8VIM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101042
AA Change: D448E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: D448E
| 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: D576E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: D576E
| 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: D576E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: D576E
| 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: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 83.3%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,660,941 (GRCm39) |
R197G |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,347,878 (GRCm39) |
H983L |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,978,798 (GRCm39) |
D139E |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,454,230 (GRCm39) |
R349H |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,598,934 (GRCm39) |
K331E |
probably damaging |
Het |
| B3gat1 |
A |
G |
9: 26,667,377 (GRCm39) |
E203G |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,993,595 (GRCm39) |
E719G |
possibly damaging |
Het |
| Cap2 |
G |
C |
13: 46,791,498 (GRCm39) |
|
probably null |
Het |
| Ccni |
A |
G |
5: 93,350,186 (GRCm39) |
V31A |
probably benign |
Het |
| Cdcp3 |
T |
A |
7: 130,796,032 (GRCm39) |
|
probably null |
Het |
| Clns1a |
T |
A |
7: 97,363,239 (GRCm39) |
Y204N |
possibly damaging |
Het |
| Cox11 |
C |
T |
11: 90,535,326 (GRCm39) |
T259I |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,371,869 (GRCm39) |
N940S |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,327,265 (GRCm39) |
V1181A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,839,022 (GRCm39) |
V686A |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,384 (GRCm39) |
V330A |
possibly damaging |
Het |
| Fbf1 |
A |
C |
11: 116,045,860 (GRCm39) |
F245V |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,225 (GRCm39) |
F327I |
probably damaging |
Het |
| Galnt1 |
C |
T |
18: 24,387,690 (GRCm39) |
P144S |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,105 (GRCm39) |
S513G |
probably benign |
Het |
| Ghrhr |
A |
T |
6: 55,356,171 (GRCm39) |
D88V |
possibly damaging |
Het |
| Greb1l |
T |
A |
18: 10,560,331 (GRCm39) |
C1864S |
probably damaging |
Het |
| H1f2 |
T |
C |
13: 23,923,106 (GRCm39) |
I92T |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,750,992 (GRCm39) |
E336G |
probably damaging |
Het |
| Irgc |
C |
A |
7: 24,132,753 (GRCm39) |
E21D |
possibly damaging |
Het |
| Itsn1 |
A |
T |
16: 91,625,168 (GRCm39) |
R590* |
probably null |
Het |
| Katnip |
T |
C |
7: 125,394,557 (GRCm39) |
V211A |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,886,694 (GRCm39) |
V67A |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,065,042 (GRCm39) |
Q179R |
probably damaging |
Het |
| Ltbr |
A |
C |
6: 125,289,836 (GRCm39) |
D119E |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,284,705 (GRCm39) |
T565A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,235,939 (GRCm39) |
N473K |
possibly damaging |
Het |
| Neil2 |
T |
A |
14: 63,420,975 (GRCm39) |
I239F |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,620,175 (GRCm39) |
F123S |
possibly damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4f15 |
T |
C |
2: 111,813,645 (GRCm39) |
Y258C |
probably damaging |
Het |
| Or52x1 |
C |
A |
7: 104,852,821 (GRCm39) |
C243F |
probably damaging |
Het |
| Or56a5 |
T |
C |
7: 104,793,281 (GRCm39) |
D73G |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,366 (GRCm39) |
R305* |
probably null |
Het |
| Or8d1b |
A |
C |
9: 38,887,547 (GRCm39) |
|
probably null |
Het |
| Or9i2 |
C |
T |
19: 13,815,902 (GRCm39) |
V212M |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,722,646 (GRCm39) |
T941A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,625,115 (GRCm39) |
Y864* |
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,823,995 (GRCm39) |
I844T |
probably benign |
Het |
| Ppp1r3b |
T |
A |
8: 35,851,655 (GRCm39) |
F165I |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,587,322 (GRCm39) |
F357L |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,563 (GRCm39) |
Y535C |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,677,858 (GRCm39) |
E602V |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,433,292 (GRCm39) |
N343S |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,860,199 (GRCm39) |
L1008P |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,674,794 (GRCm39) |
R226C |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,457,388 (GRCm39) |
V154A |
probably damaging |
Het |
| Slc22a23 |
G |
A |
13: 34,367,244 (GRCm39) |
T588I |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,904,156 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,277 (GRCm39) |
M258K |
probably damaging |
Het |
| Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,711 (GRCm39) |
D460G |
possibly damaging |
Het |
| Syn3 |
T |
A |
10: 86,284,750 (GRCm39) |
I117F |
possibly damaging |
Het |
| Tead4 |
C |
T |
6: 128,220,365 (GRCm39) |
A224T |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,286,184 (GRCm39) |
N546K |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,916,036 (GRCm39) |
H1227L |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,648,716 (GRCm39) |
G62D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,104,078 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 37,968,737 (GRCm39) |
T2727A |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,473,486 (GRCm39) |
L458R |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,119 (GRCm39) |
K966R |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,593,532 (GRCm39) |
H811L |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,370,768 (GRCm39) |
H496R |
probably damaging |
Het |
| Zfp467 |
A |
T |
6: 48,415,689 (GRCm39) |
V321E |
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation