Incidental Mutation 'IGL02448:Srf'
ID293603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srf
Ensembl Gene ENSMUSG00000015605
Gene Nameserum response factor
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02448
Quality Score
Status
Chromosome17
Chromosomal Location46546839-46556162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46555423 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 136 (T136A)
Ref Sequence ENSEMBL: ENSMUSP00000015749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015749
AA Change: T136A

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015749
Gene: ENSMUSG00000015605
AA Change: T136A

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 noncoding transcript
Transcript: ENSMUST00000181301
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Srf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01836:Srf APN 17 46549182 unclassified probably benign
R0277:Srf UTSW 17 46549489 missense possibly damaging 0.54
R0323:Srf UTSW 17 46549489 missense possibly damaging 0.54
R1633:Srf UTSW 17 46551608 missense probably damaging 1.00
R1807:Srf UTSW 17 46553759 missense possibly damaging 0.88
R1930:Srf UTSW 17 46549986 missense probably damaging 1.00
R1932:Srf UTSW 17 46549986 missense probably damaging 1.00
R1951:Srf UTSW 17 46551707 missense possibly damaging 0.94
R4851:Srf UTSW 17 46549474 missense probably benign 0.33
R7017:Srf UTSW 17 46550904 missense probably benign 0.18
R7128:Srf UTSW 17 46555446 missense possibly damaging 0.88
R7177:Srf UTSW 17 46555392 missense probably damaging 0.99
R7315:Srf UTSW 17 46551794 critical splice acceptor site probably null
R8019:Srf UTSW 17 46555822 missense unknown
Posted On2015-04-16