Incidental Mutation 'IGL02426:Socs5'
ID 292901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs5
Ensembl Gene ENSMUSG00000037104
Gene Name suppressor of cytokine signaling 5
Synonyms SOCS-5, Cish5, 1810018L08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02426
Quality Score
Status
Chromosome 17
Chromosomal Location 87415107-87445267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87442320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 420 (R420L)
Ref Sequence ENSEMBL: ENSMUSP00000038591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041369]
AlphaFold O54928
Predicted Effect probably damaging
Transcript: ENSMUST00000041369
AA Change: R420L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038591
Gene: ENSMUSG00000037104
AA Change: R420L

DomainStartEndE-ValueType
Pfam:SOCS 145 197 8.4e-20 PFAM
low complexity region 258 270 N/A INTRINSIC
SH2 379 465 4.59e-18 SMART
SOCS 475 518 1.65e-19 SMART
SOCS_box 481 517 3.74e-10 SMART
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) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable and fertile with normal immune system morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,157,675 (GRCm39) T1294M probably damaging Het
Bad A G 19: 6,928,785 (GRCm39) S128G probably damaging Het
Casp9 T G 4: 141,539,515 (GRCm39) probably null Het
Ccdc39 T C 3: 33,879,547 (GRCm39) K507R possibly damaging Het
Cep76 A G 18: 67,767,987 (GRCm39) S182P probably benign Het
Cmklr2 T C 1: 63,222,827 (GRCm39) Y136C probably damaging Het
Cmtr2 A G 8: 110,948,322 (GRCm39) M211V possibly damaging Het
Cobl T A 11: 12,204,351 (GRCm39) K777* probably null Het
Cul9 T G 17: 46,834,184 (GRCm39) T1253P possibly damaging Het
Dmd T A X: 83,892,342 (GRCm39) L3002H probably damaging Het
Dnah9 C T 11: 66,015,979 (GRCm39) V421I probably benign Het
Eif4a2 A G 16: 22,929,399 (GRCm39) I234V probably benign Het
Epha4 T C 1: 77,421,514 (GRCm39) M323V probably benign Het
Fam47c A G X: 77,781,943 (GRCm39) D175G probably benign Het
Gm14178 T C 11: 99,638,341 (GRCm39) Het
Hes3 T C 4: 152,371,397 (GRCm39) N184S probably benign Het
Kdm6a A G X: 18,112,549 (GRCm39) E45G probably damaging Het
Kdr T C 5: 76,135,126 (GRCm39) K33E probably benign Het
Or2a52 A C 6: 43,144,022 (GRCm39) D10A probably benign Het
Or4k37 A T 2: 111,158,920 (GRCm39) D52V probably damaging Het
Or4k45 A T 2: 111,394,883 (GRCm39) I302K probably benign Het
Or52n4b A G 7: 108,144,187 (GRCm39) T150A probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pi4ka A T 16: 17,196,296 (GRCm39) probably benign Het
Pigk T A 3: 152,448,120 (GRCm39) probably null Het
Pikfyve A G 1: 65,290,771 (GRCm39) T1197A possibly damaging Het
Plppr4 T C 3: 117,115,944 (GRCm39) I638V probably benign Het
Pramel28 T C 4: 143,693,229 (GRCm39) D83G possibly damaging Het
Rtl9 T C X: 141,886,098 (GRCm39) V1170A probably damaging Het
Ryr3 A G 2: 112,731,250 (GRCm39) S687P possibly damaging Het
Skint5 T C 4: 113,797,981 (GRCm39) T201A probably benign Het
Sos1 C T 17: 80,742,372 (GRCm39) S385N possibly damaging Het
Tomm34 A T 2: 163,906,875 (GRCm39) V106D probably damaging Het
Tubal3 T C 13: 3,982,750 (GRCm39) S177P probably damaging Het
Wbp2nl G A 15: 82,190,374 (GRCm39) A101T probably damaging Het
Other mutations in Socs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02553:Socs5 APN 17 87,442,419 (GRCm39) missense probably damaging 1.00
PIT1430001:Socs5 UTSW 17 87,441,044 (GRCm39) splice site probably benign
R0909:Socs5 UTSW 17 87,441,201 (GRCm39) missense probably benign 0.11
R1595:Socs5 UTSW 17 87,441,623 (GRCm39) missense probably damaging 1.00
R2397:Socs5 UTSW 17 87,442,377 (GRCm39) missense probably damaging 1.00
R3160:Socs5 UTSW 17 87,442,146 (GRCm39) missense probably damaging 1.00
R3162:Socs5 UTSW 17 87,442,146 (GRCm39) missense probably damaging 1.00
R5264:Socs5 UTSW 17 87,441,769 (GRCm39) missense probably damaging 1.00
R5483:Socs5 UTSW 17 87,442,402 (GRCm39) missense probably damaging 1.00
R6604:Socs5 UTSW 17 87,442,553 (GRCm39) missense probably damaging 1.00
R7790:Socs5 UTSW 17 87,441,791 (GRCm39) missense probably benign 0.03
R8205:Socs5 UTSW 17 87,441,138 (GRCm39) missense probably benign 0.01
R9411:Socs5 UTSW 17 87,442,521 (GRCm39) missense possibly damaging 0.63
R9428:Socs5 UTSW 17 87,441,067 (GRCm39) missense probably benign
R9456:Socs5 UTSW 17 87,442,266 (GRCm39) missense probably damaging 1.00
X0011:Socs5 UTSW 17 87,442,368 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16