Incidental Mutation 'IGL00495:Socs4'
ID4207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs4
Ensembl Gene ENSMUSG00000048379
Gene Namesuppressor of cytokine signaling 4
SynonymsSocs7
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.406) question?
Stock #IGL00495
Quality Score
Status
Chromosome14
Chromosomal Location47276931-47296102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 47290252 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 215 (V215I)
Ref Sequence ENSEMBL: ENSMUSP00000066031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065562] [ENSMUST00000227413]
Predicted Effect probably benign
Transcript: ENSMUST00000065562
AA Change: V215I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
AA Change: V215I

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
Pfam:SOCS 55 108 6.8e-23 PFAM
low complexity region 219 232 N/A INTRINSIC
SH2 281 367 1.11e-16 SMART
SOCS 377 420 1.69e-16 SMART
SOCS_box 383 419 1.13e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227413
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Socs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Socs4 APN 14 47290650 nonsense probably null
IGL02039:Socs4 APN 14 47290193 missense probably benign
IGL02117:Socs4 APN 14 47290807 missense probably damaging 1.00
R0281:Socs4 UTSW 14 47289868 missense probably benign 0.25
R0703:Socs4 UTSW 14 47290048 missense probably damaging 1.00
R0763:Socs4 UTSW 14 47290655 missense probably damaging 1.00
R0842:Socs4 UTSW 14 47289969 missense probably damaging 0.98
R1133:Socs4 UTSW 14 47290194 missense probably benign 0.01
R1280:Socs4 UTSW 14 47290913 missense probably benign 0.23
R1619:Socs4 UTSW 14 47290283 missense possibly damaging 0.87
R1632:Socs4 UTSW 14 47289577 start gained probably benign
R5058:Socs4 UTSW 14 47290132 nonsense probably null
R6008:Socs4 UTSW 14 47290161 missense probably damaging 0.98
R6648:Socs4 UTSW 14 47290176 missense probably benign 0.02
R6925:Socs4 UTSW 14 47289738 nonsense probably null
R7408:Socs4 UTSW 14 47289839 missense probably benign 0.00
Posted On2012-04-20