Incidental Mutation 'R9299:Socs1'
ID 704815
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9299 (G1)
Quality Score 132.008
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G T 9: 57,163,792 (GRCm39) R861S possibly damaging Het
Abca12 T A 1: 71,359,042 (GRCm39) N588I possibly damaging Het
Adamts9 A G 6: 92,773,976 (GRCm39) Y1727H probably benign Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Alad C T 4: 62,429,760 (GRCm39) probably null Het
Anapc15-ps C A 10: 95,509,077 (GRCm39) D68Y probably damaging Het
Arhgap45 T C 10: 79,862,565 (GRCm39) S645P possibly damaging Het
Atp9a A T 2: 168,554,666 (GRCm39) M1K probably null Het
B020004C17Rik A T 14: 57,254,230 (GRCm39) I118F probably damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Ccdc7a T C 8: 129,616,319 (GRCm39) Q928R probably benign Het
Cdc42bpa C A 1: 179,972,073 (GRCm39) L1292I probably damaging Het
Clec2e A C 6: 129,072,092 (GRCm39) F96V probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Cyp4a10 A G 4: 115,376,947 (GRCm39) M104V probably benign Het
Cyth1 C T 11: 118,059,837 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Dpcd C A 19: 45,566,009 (GRCm39) Q203K probably damaging Het
Dph1 T A 11: 75,070,622 (GRCm39) Q339L possibly damaging Het
Dpy19l3 G T 7: 35,424,752 (GRCm39) S187* probably null Het
Eva1a G T 6: 82,069,047 (GRCm39) A125S probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Frem2 T C 3: 53,563,980 (GRCm39) T176A probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm12888 G A 4: 121,182,044 (GRCm39) S16F unknown Het
Hsf5 T A 11: 87,526,770 (GRCm39) C481S probably benign Het
Ifi211 T A 1: 173,735,288 (GRCm39) Q47L probably damaging Het
Il17re A T 6: 113,440,971 (GRCm39) M202L probably benign Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Ksr2 G A 5: 117,885,399 (GRCm39) probably null Het
Lrtm1 C T 14: 28,743,714 (GRCm39) P61S probably damaging Het
Ltk A T 2: 119,584,721 (GRCm39) S487R possibly damaging Het
Mis18bp1 A T 12: 65,185,538 (GRCm39) D876E possibly damaging Het
Nalf1 T C 8: 9,820,156 (GRCm39) Y288C probably damaging Het
Or8b39 A G 9: 37,996,785 (GRCm39) T218A probably benign Het
Paqr7 A G 4: 134,234,311 (GRCm39) N56S probably benign Het
Pcdhb22 G T 18: 37,651,885 (GRCm39) E118* probably null Het
Pcdhb4 G A 18: 37,442,264 (GRCm39) A525T probably benign Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Pla2g4e T A 2: 120,002,204 (GRCm39) D617V probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Poteg A G 8: 27,940,287 (GRCm39) Y156C probably benign Het
Rev3l T C 10: 39,723,999 (GRCm39) S2644P probably damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Slc6a21 T C 7: 44,937,130 (GRCm39) V252A Het
Slx9 C A 10: 77,351,535 (GRCm39) A14S possibly damaging Het
St6galnac6 G T 2: 32,502,345 (GRCm39) R78L probably benign Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Tep1 T C 14: 51,081,988 (GRCm39) probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Thsd7a A G 6: 12,504,131 (GRCm39) F341S Het
Tmem82 A T 4: 141,343,861 (GRCm39) C136* probably null Het
Tmprss11a A T 5: 86,570,361 (GRCm39) C199* probably null Het
Zbtb48 T C 4: 152,105,147 (GRCm39) N505S possibly damaging Het
Zfp385b A T 2: 77,246,115 (GRCm39) V304E probably damaging 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
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
R9337:Socs1 UTSW 16 10,602,578 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GAAGAAGCAGTTCCGTTGGC -3'
(R):5'- AACGGCCTACTTCGCAGATG -3'

Sequencing Primer
(F):5'- CAGTTCCGTTGGCGACTGTC -3'
(R):5'- CTACTTCGCAGATGAGCCC -3'
Posted On 2022-03-25