Incidental Mutation 'IGL03002:Socs1'
ID 407401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs1
Ensembl Gene ENSMUSG00000038037
Gene Name suppressor of cytokine signaling 1
Synonyms Cish7, Cish1, JAB, SOCS-1, JAK-binding protein, STAT-induced STAT inhibitor 1, JAK2-binding protein, SSI-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03002
Quality Score
Status
Chromosome 16
Chromosomal Location 10601672-10603400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10602404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 111 (N111S)
Ref Sequence ENSEMBL: ENSMUSP00000155530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038099] [ENSMUST00000051297] [ENSMUST00000229866]
AlphaFold O35716
Predicted Effect probably damaging
Transcript: ENSMUST00000038099
AA Change: N111S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038121
Gene: ENSMUSG00000038037
AA Change: N111S

DomainStartEndE-ValueType
low complexity region 14 51 N/A INTRINSIC
SH2 78 161 1.29e-21 SMART
SOCS 166 209 2.48e-14 SMART
SOCS_box 172 208 9.01e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051297
SMART Domains Protein: ENSMUSP00000053078
Gene: ENSMUSG00000043050

DomainStartEndE-ValueType
Pfam:TP2 1 117 4.1e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000229866
AA Change: N111S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
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 member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded growth, hyperresponsiveness to endogenous interferon gamma, hepatitis with fatty degeneration, lymphopenia due to excess apoptosis, monocytic organ infiltration, and lethality by 3 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Socs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
minipad UTSW 16 10,602,394 (GRCm39) missense probably damaging 1.00
Yogi UTSW 16 10,602,578 (GRCm39) missense possibly damaging 0.92
R0670:Socs1 UTSW 16 10,602,126 (GRCm39) missense probably damaging 1.00
R3027:Socs1 UTSW 16 10,602,578 (GRCm39) missense possibly damaging 0.92
R4509:Socs1 UTSW 16 10,602,218 (GRCm39) missense probably benign 0.10
R4993:Socs1 UTSW 16 10,602,549 (GRCm39) missense probably benign 0.17
R6014:Socs1 UTSW 16 10,602,357 (GRCm39) missense possibly damaging 0.66
R6059:Socs1 UTSW 16 10,602,394 (GRCm39) missense probably damaging 1.00
R6802:Socs1 UTSW 16 10,602,222 (GRCm39) missense probably benign 0.06
R6897:Socs1 UTSW 16 10,602,266 (GRCm39) missense probably benign 0.05
R8962:Socs1 UTSW 16 10,602,642 (GRCm39) missense possibly damaging 0.73
R9058:Socs1 UTSW 16 10,602,692 (GRCm39) missense probably benign
R9299:Socs1 UTSW 16 10,602,578 (GRCm39) missense possibly damaging 0.92
R9337:Socs1 UTSW 16 10,602,578 (GRCm39) missense possibly damaging 0.92
Posted On 2016-08-02