Incidental Mutation 'IGL01836:Srf'
ID154970
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 #IGL01836
Quality Score
Status
Chromosome17
Chromosomal Location46546839-46556162 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 46549182 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015749] [ENSMUST00000066026] [ENSMUST00000182485]
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: 138,313,336 probably benign Het
Atp1a1 C T 3: 101,591,414 G188R probably damaging Het
Cadps A G 14: 12,522,311 Y618H probably damaging Het
Dot1l T C 10: 80,785,866 S451P probably benign Het
Dpysl4 G A 7: 139,096,173 V294I possibly damaging Het
Ehmt1 T A 2: 24,863,220 probably null Het
Eps8 C T 6: 137,483,541 probably null Het
Gm7247 T A 14: 51,365,396 I63K probably damaging Het
Gsdme T A 6: 50,222,789 D270V probably damaging Het
Kel T A 6: 41,697,438 T353S possibly damaging Het
Krt73 T C 15: 101,795,896 H403R probably benign Het
Mrnip A G 11: 50,199,848 T280A probably benign Het
Olfr342 C T 2: 36,527,825 Q138* probably null Het
Pkdrej A G 15: 85,820,958 L259P probably damaging Het
Plod2 T C 9: 92,606,498 probably benign Het
Rad54l2 A G 9: 106,716,157 S415P probably benign Het
Rag1 A T 2: 101,641,894 F968I probably damaging Het
Rreb1 T C 13: 37,931,457 S931P probably damaging Het
Sec23a T C 12: 58,971,287 I618V probably damaging Het
Smtnl1 A T 2: 84,815,370 F386I probably damaging Het
Sppl2b C T 10: 80,861,386 T30I probably benign Het
Tbc1d22b A G 17: 29,599,958 T429A probably damaging Het
Tcf20 A T 15: 82,855,155 D698E probably damaging Het
Tmem106c C A 15: 97,969,686 S250R probably benign Het
Tmprss3 A G 17: 31,191,044 S199P probably benign Het
Ush2a C T 1: 188,759,863 probably benign Het
Zfp595 A G 13: 67,332,461 probably benign Het
Other mutations in Srf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Srf APN 17 46555423 missense possibly damaging 0.47
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
R8678:Srf UTSW 17 46550899 critical splice donor site probably null
Posted On2014-02-04