Incidental Mutation 'R3027:Socs1'
ID 265866
Institutional Source Beutler Lab
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
MMRRC Submission 040543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3027 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 10601672-10603400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10602578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000155530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038099] [ENSMUST00000051297] [ENSMUST00000229866]
AlphaFold O35716
Predicted Effect possibly damaging
Transcript: ENSMUST00000038099
AA Change: D53G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038121
Gene: ENSMUSG00000038037
AA Change: D53G

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 possibly damaging
Transcript: ENSMUST00000229866
AA Change: D53G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (33/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,827,240 (GRCm39) T993A probably damaging Het
Arhgap18 G A 10: 26,722,092 (GRCm39) G21D probably benign Het
Cluap1 T A 16: 3,729,396 (GRCm39) C84* probably null Het
Dnmt3a T A 12: 3,899,626 (GRCm39) probably null Het
Etaa1 T C 11: 17,897,886 (GRCm39) D146G probably damaging Het
Fam227a T C 15: 79,532,934 (GRCm39) probably null Het
Htt T A 5: 34,977,439 (GRCm39) I775N possibly damaging Het
Itgax C A 7: 127,747,744 (GRCm39) Y1053* probably null Het
Kif21a T A 15: 90,856,845 (GRCm39) N583Y probably damaging Het
Lrp1b T A 2: 40,760,283 (GRCm39) E2995V probably benign Het
Or1ad8 G A 11: 50,897,879 (GRCm39) V27M possibly damaging Het
Or5h22 C T 16: 58,895,330 (GRCm39) V38I probably benign Het
Or6aa1 T C 7: 86,043,761 (GRCm39) N315S probably benign Het
Or8k39 C T 2: 86,563,930 (GRCm39) V9M possibly damaging Het
Otos A T 1: 92,572,076 (GRCm39) H83Q probably damaging Het
Pramel7 A G 2: 87,321,747 (GRCm39) M96T probably benign Het
Ptprz1 T A 6: 23,016,196 (GRCm39) S1680T possibly damaging Het
Rad50 A G 11: 53,586,208 (GRCm39) S263P probably benign Het
Resf1 T C 6: 149,230,533 (GRCm39) L1193P probably benign Het
Retreg2 A G 1: 75,123,088 (GRCm39) S339G probably damaging Het
Schip1 G A 3: 68,401,943 (GRCm39) A7T probably damaging Het
Shkbp1 A C 7: 27,042,818 (GRCm39) S540A probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spag9 G T 11: 93,977,203 (GRCm39) R103L probably null Het
Spc24 AGAGGTAGTCACTGA AGA 9: 21,667,511 (GRCm39) probably null Het
Spo11 T C 2: 172,827,736 (GRCm39) Y146H probably damaging Het
Tmem25 T C 9: 44,709,511 (GRCm39) probably null Het
Ttyh1 A G 7: 4,122,721 (GRCm39) D23G probably benign Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp513 A G 5: 31,356,673 (GRCm39) S540P possibly damaging Het
Zfp808 A T 13: 62,319,404 (GRCm39) H211L probably benign Het
Other mutations in Socs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03002:Socs1 APN 16 10,602,404 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- CGAAGAAGCAGTTCCGTTGG -3'
(R):5'- TACTTCGCAGATGAGCCCAC -3'

Sequencing Primer
(F):5'- CAGTTCCGTTGGCGACTGTC -3'
(R):5'- ACCGAGGCTCAAGCTCC -3'
Posted On 2015-02-05