MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] PHENOTYPE: Homozygous null mice exhibit embryonic lethality, abnormal gastrulation, no mesoderm or primitive streak formation and reduced embryo size. [provided by MGI curators]
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Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
Gcc2 |
T |
A |
10: 58,128,393 (GRCm39) |
C1304* |
probably null |
Het |
Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,099,161 (GRCm39) |
N84I |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
T |
C |
10: 24,158,617 (GRCm39) |
F424L |
probably damaging |
Het |
Mpeg1 |
A |
C |
19: 12,439,973 (GRCm39) |
D477A |
probably benign |
Het |
Mtmr10 |
A |
T |
7: 63,957,898 (GRCm39) |
Y166F |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
Het |
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Other mutations in Srf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01836:Srf
|
APN |
17 |
46,860,108 (GRCm39) |
unclassified |
probably benign |
|
R0277:Srf
|
UTSW |
17 |
46,860,415 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0323:Srf
|
UTSW |
17 |
46,860,415 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1633:Srf
|
UTSW |
17 |
46,862,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Srf
|
UTSW |
17 |
46,864,685 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1930:Srf
|
UTSW |
17 |
46,860,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Srf
|
UTSW |
17 |
46,860,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Srf
|
UTSW |
17 |
46,862,633 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4851:Srf
|
UTSW |
17 |
46,860,400 (GRCm39) |
missense |
probably benign |
0.33 |
R7017:Srf
|
UTSW |
17 |
46,861,830 (GRCm39) |
missense |
probably benign |
0.18 |
R7128:Srf
|
UTSW |
17 |
46,866,372 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7177:Srf
|
UTSW |
17 |
46,866,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R7315:Srf
|
UTSW |
17 |
46,862,720 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8019:Srf
|
UTSW |
17 |
46,866,748 (GRCm39) |
missense |
unknown |
|
R8678:Srf
|
UTSW |
17 |
46,861,825 (GRCm39) |
critical splice donor site |
probably null |
|
R8927:Srf
|
UTSW |
17 |
46,860,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Srf
|
UTSW |
17 |
46,860,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Srf
|
UTSW |
17 |
46,866,271 (GRCm39) |
missense |
probably benign |
0.29 |
R9778:Srf
|
UTSW |
17 |
46,860,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|