Incidental Mutation 'R1630:Myocd'
| ID |
172752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myocd
|
| Ensembl Gene |
ENSMUSG00000020542 |
| Gene Name |
myocardin |
| Synonyms |
Srfcp |
| MMRRC Submission |
039667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1630 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
65067387-65160815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65087220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 236
(S236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101042]
[ENSMUST00000102635]
[ENSMUST00000108695]
|
| AlphaFold |
Q8VIM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101042
AA Change: S108P
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098603
Gene: ENSMUSG00000020542
AA Change: S108P
| 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: S236P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099695
Gene: ENSMUSG00000020542
AA Change: S236P
| 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: S236P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104335
Gene: ENSMUSG00000020542
AA Change: S236P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115572
Gene: ENSMUSG00000020542
AA Change: S110P
| 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 |
|
| Meta Mutation Damage Score |
0.0955 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
C |
A |
13: 48,114,201 (GRCm39) |
|
noncoding transcript |
Het |
| 9930012K11Rik |
T |
C |
14: 70,394,629 (GRCm39) |
E175G |
probably benign |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,814 (GRCm39) |
|
noncoding transcript |
Het |
| Atm |
A |
T |
9: 53,390,973 (GRCm39) |
L1867Q |
probably damaging |
Het |
| Atp5f1a |
A |
G |
18: 77,865,267 (GRCm39) |
D63G |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,836,474 (GRCm39) |
S20T |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,766,503 (GRCm39) |
C34Y |
possibly damaging |
Het |
| Cactin |
A |
G |
10: 81,159,559 (GRCm39) |
T353A |
probably benign |
Het |
| Cdyl |
A |
G |
13: 35,867,786 (GRCm39) |
K21E |
possibly damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,022 (GRCm39) |
T48A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,701,918 (GRCm39) |
T1722S |
possibly damaging |
Het |
| Dapk1 |
A |
T |
13: 60,877,345 (GRCm39) |
E528V |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dnajc5b |
C |
A |
3: 19,628,905 (GRCm39) |
N66K |
probably damaging |
Het |
| Dusp16 |
G |
T |
6: 134,697,524 (GRCm39) |
R250S |
probably damaging |
Het |
| F10 |
A |
G |
8: 13,105,551 (GRCm39) |
N384S |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,085,647 (GRCm39) |
S331G |
probably damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,717 (GRCm39) |
I592S |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,312 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
T |
C |
4: 137,245,746 (GRCm39) |
L913P |
probably damaging |
Het |
| Ifna1 |
T |
A |
4: 88,768,566 (GRCm39) |
S81R |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,826,293 (GRCm39) |
K510E |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,992,913 (GRCm39) |
Y140H |
probably damaging |
Het |
| Lix1 |
A |
G |
17: 17,677,420 (GRCm39) |
H205R |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,490 (GRCm39) |
T524S |
probably benign |
Het |
| Mndal |
A |
C |
1: 173,701,958 (GRCm39) |
F115V |
possibly damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,421 (GRCm39) |
N541K |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nes |
T |
A |
3: 87,884,984 (GRCm39) |
V1037E |
probably benign |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,140 (GRCm39) |
W178R |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,284,146 (GRCm39) |
C8* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,393,657 (GRCm39) |
T348A |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,546 (GRCm39) |
T160A |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,673 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8k17 |
A |
G |
2: 86,066,430 (GRCm39) |
S243P |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,167 (GRCm39) |
T448A |
probably benign |
Het |
| Plrg1 |
A |
G |
3: 82,966,070 (GRCm39) |
D75G |
probably benign |
Het |
| Ppp1r8 |
T |
C |
4: 132,556,748 (GRCm39) |
E213G |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,580,828 (GRCm39) |
F898L |
possibly damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rasl10a |
G |
C |
11: 5,009,542 (GRCm39) |
R110P |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,061,078 (GRCm39) |
I1082T |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,265 (GRCm39) |
D734G |
possibly damaging |
Het |
| Sgce |
C |
T |
6: 4,719,476 (GRCm39) |
V44M |
probably damaging |
Het |
| Sgo2b |
A |
G |
8: 64,380,831 (GRCm39) |
V667A |
possibly damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,798,763 (GRCm39) |
C118* |
probably null |
Het |
| Slain2 |
C |
T |
5: 73,133,347 (GRCm39) |
P563S |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,602,547 (GRCm39) |
I167F |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,399,621 (GRCm39) |
L2356P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,164 (GRCm39) |
V305A |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,434,658 (GRCm39) |
R1050H |
probably benign |
Het |
| Tmem106b |
A |
G |
6: 13,081,540 (GRCm39) |
N149S |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,868,812 (GRCm39) |
T486A |
probably damaging |
Het |
| Tmem212 |
T |
A |
3: 27,939,250 (GRCm39) |
T79S |
possibly damaging |
Het |
| Ttll11 |
A |
G |
2: 35,779,337 (GRCm39) |
V471A |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,899,769 (GRCm39) |
N318D |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,032 (GRCm39) |
D458G |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,952 (GRCm39) |
C342* |
probably null |
Het |
| Zfp963 |
A |
T |
8: 70,196,837 (GRCm39) |
|
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 |
|
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 |
PCR Primer
(F):5'- GGGAGTCAGAGGCCAAACATATCAC -3'
(R):5'- TCCAAGAGCCCAGTAAGGTGTAAGG -3'
Sequencing Primer
(F):5'- tgctgctgctgctgttg -3'
(R):5'- GTGCCTATGTGCCGTGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation