Incidental Mutation 'IGL03303:Socs6'
ID 416313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs6
Ensembl Gene ENSMUSG00000056153
Gene Name suppressor of cytokine signaling 6
Synonyms Socs4, Cish4, 5830401B18Rik, CIS4, STAT4, 1500012M23Rik, STAI4, HSPC060, STATI4, SSI4, SOCS-6, SOCS-4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # IGL03303
Quality Score
Status
Chromosome 18
Chromosomal Location 88883293-88912623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88887868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 349 (A349E)
Ref Sequence ENSEMBL: ENSMUSP00000118764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070116] [ENSMUST00000123826] [ENSMUST00000125362] [ENSMUST00000145120] [ENSMUST00000147313]
AlphaFold Q9JLY0
Predicted Effect probably damaging
Transcript: ENSMUST00000070116
AA Change: A349E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064929
Gene: ENSMUSG00000056153
AA Change: A349E

DomainStartEndE-ValueType
low complexity region 85 92 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 306 314 N/A INTRINSIC
SH2 380 465 4.08e-24 SMART
SOCS 489 532 1.98e-22 SMART
SOCS_box 495 531 2.54e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123826
AA Change: A349E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114993
Gene: ENSMUSG00000056153
AA Change: A349E

DomainStartEndE-ValueType
low complexity region 85 92 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 306 314 N/A INTRINSIC
SH2 380 465 4.08e-24 SMART
SOCS 489 532 1.98e-22 SMART
SOCS_box 495 531 2.54e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125362
AA Change: A349E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118764
Gene: ENSMUSG00000056153
AA Change: A349E

DomainStartEndE-ValueType
low complexity region 85 92 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 306 314 N/A INTRINSIC
SH2 380 465 4.08e-24 SMART
SOCS 489 532 1.98e-22 SMART
SOCS_box 495 531 2.54e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136173
Predicted Effect probably benign
Transcript: ENSMUST00000145120
SMART Domains Protein: ENSMUSP00000122237
Gene: ENSMUSG00000056153

DomainStartEndE-ValueType
low complexity region 85 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147313
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 CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit reduced body weight, but normal hematopoiesis and glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Ube2s A T 7: 4,813,476 (GRCm39) V35D probably damaging Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Socs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03062:Socs6 APN 18 88,887,970 (GRCm39) missense probably benign 0.11
R5177:Socs6 UTSW 18 88,887,504 (GRCm39) nonsense probably null
R8131:Socs6 UTSW 18 88,888,169 (GRCm39) missense probably benign 0.38
R9027:Socs6 UTSW 18 88,888,852 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02