Incidental Mutation 'R6059:Socs1'
ID 483147
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 044225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6059 (G1)
Quality Score 122.008
Status Validated
Chromosome 16
Chromosomal Location 10601672-10603400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 10602394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 114 (F114L)
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: F114L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038121
Gene: ENSMUSG00000038037
AA Change: F114L

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: F114L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6511 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik C A 17: 48,400,847 (GRCm39) T44K probably benign Het
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Abo A G 2: 26,733,365 (GRCm39) V278A possibly damaging Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Dsc1 A T 18: 20,243,299 (GRCm39) N51K probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp2r5c C A 12: 110,541,222 (GRCm39) A457E probably benign Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Ttc5 C G 14: 51,015,303 (GRCm39) V103L probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T 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
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'- AACTCAGGTAGTCACGGAGTAC -3'
(R):5'- TAGGATGGTAGCACGCAACC -3'

Sequencing Primer
(F):5'- TTAAGAGGGATGCGCGCC -3'
(R):5'- TAGCACGCAACCAGGTG -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R6059-Socs1_PCR_F: 5’- AACTCAGGTAGTCACGGAGTAC-3’

R6059-Socs1_PCR_R: 5’- TAGGATGGTAGCACGCAACC-3’

Sequencing Primers

R6059-Socs1_SEQ_F: 5’- TTAAGAGGGATGCGCGCC-3’
 

R6059-Socs1_SEQ_R: 5’- TAGCACGCAACCAGGTG-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 623 nucleotides is amplified:

aactcaggta gtcacggagt accgggttaa gagggatgcg cgccaggttc tcgcgaccca       

cggcggccac gatgcgctgg cgacacagct cctgcagcgg ccgcacgcgg cgctggcgca      

gcggggcccc caacatgcgg cgcggcgccg ccacgtagtg ctccagcagc tcgaaaaggc      

agtcgaaggt ctcgcggctg ccgtccaagt ggaagcggcc ggcctggaag tgcacgcgga      

tgctcgtggg gcccgaagcc atcttcacgc tgagcgcgaa gaagcagttc cgttggcgac      

tgtcgcgcac caagaaggtg cccacgggct cggcacgcag ccgctcgtgc gccccgtgca      

cgctcagggg tccccaatag aagccgcagg cgtccaggag cgcgctggtc cgcgtgatgc      

gccggtaatc ggagtgggag cggaaggtgc ggaagtgagt gtcgccaggg gctggggctg      

ggaccgccgg gcagggccgg ggacgcacgg gggccgctgg cgaggacgaa gacgaggacg      

aggagggctc tgaccgccgt cggggctctg ctgccgggga gatcgcattg tcggctgcca      

cctggttgcg tgctaccatc cta

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = G>C).
Posted On 2017-07-14