Incidental Mutation 'IGL01836:Srf'
ID |
154970 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Srf
|
Ensembl Gene |
ENSMUSG00000015605 |
Gene Name |
serum response factor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01836
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46859255-46867101 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 46860108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015749]
[ENSMUST00000066026]
[ENSMUST00000182485]
|
AlphaFold |
Q9JM73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015749
|
SMART Domains |
Protein: ENSMUSP00000015749 Gene: ENSMUSG00000015605
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
46 |
N/A |
INTRINSIC |
low complexity region
|
60 |
70 |
N/A |
INTRINSIC |
low complexity region
|
73 |
90 |
N/A |
INTRINSIC |
low complexity region
|
104 |
130 |
N/A |
INTRINSIC |
MADS
|
137 |
196 |
3.08e-28 |
SMART |
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
Blast:MADS
|
256 |
289 |
3e-11 |
BLAST |
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
internal_repeat_1
|
335 |
360 |
6.39e-6 |
PROSPERO |
low complexity region
|
368 |
383 |
N/A |
INTRINSIC |
internal_repeat_1
|
450 |
473 |
6.39e-6 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066026
|
SMART Domains |
Protein: ENSMUSP00000067736 Gene: ENSMUSG00000040327
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
Pfam:Cul7
|
367 |
441 |
1e-35 |
PFAM |
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
low complexity region
|
525 |
540 |
N/A |
INTRINSIC |
low complexity region
|
845 |
860 |
N/A |
INTRINSIC |
low complexity region
|
873 |
880 |
N/A |
INTRINSIC |
APC10
|
1166 |
1325 |
1.97e-56 |
SMART |
low complexity region
|
1437 |
1450 |
N/A |
INTRINSIC |
low complexity region
|
1563 |
1578 |
N/A |
INTRINSIC |
low complexity region
|
1646 |
1671 |
N/A |
INTRINSIC |
Cullin_Nedd8
|
1867 |
1950 |
7.55e-6 |
SMART |
Blast:RING
|
2074 |
2122 |
2e-13 |
BLAST |
IBR
|
2144 |
2207 |
8.99e-14 |
SMART |
IBR
|
2228 |
2283 |
4.66e-2 |
SMART |
low complexity region
|
2503 |
2520 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182315
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182485
|
SMART Domains |
Protein: ENSMUSP00000138418 Gene: ENSMUSG00000040327
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
Pfam:Cul7
|
367 |
442 |
1.4e-33 |
PFAM |
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
low complexity region
|
525 |
540 |
N/A |
INTRINSIC |
low complexity region
|
845 |
860 |
N/A |
INTRINSIC |
low complexity region
|
873 |
880 |
N/A |
INTRINSIC |
APC10
|
1166 |
1325 |
1.97e-56 |
SMART |
low complexity region
|
1437 |
1450 |
N/A |
INTRINSIC |
low complexity region
|
1563 |
1578 |
N/A |
INTRINSIC |
low complexity region
|
1646 |
1671 |
N/A |
INTRINSIC |
Cullin_Nedd8
|
1867 |
1950 |
7.55e-6 |
SMART |
Blast:RING
|
2074 |
2122 |
3e-13 |
BLAST |
IBR
|
2144 |
2207 |
8.99e-14 |
SMART |
IBR
|
2228 |
2283 |
4.66e-2 |
SMART |
coiled coil region
|
2461 |
2497 |
N/A |
INTRINSIC |
low complexity region
|
2513 |
2530 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199897
|
Coding Region Coverage |
|
Validation Efficiency |
|
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]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Srf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02448:Srf
|
APN |
17 |
46,866,349 (GRCm39) |
missense |
possibly damaging |
0.47 |
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 |
|
Posted On |
2014-02-04 |