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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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