Incidental Mutation 'IGL03062:Socs6'
ID 409510
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 # IGL03062
Quality Score
Status
Chromosome 18
Chromosomal Location 88883293-88912623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88887970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 315 (M315K)
Ref Sequence ENSEMBL: ENSMUSP00000118764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070116] [ENSMUST00000123826] [ENSMUST00000125362] [ENSMUST00000145120] [ENSMUST00000147313]
AlphaFold Q9JLY0
Predicted Effect probably benign
Transcript: ENSMUST00000070116
AA Change: M315K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000064929
Gene: ENSMUSG00000056153
AA Change: M315K

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 benign
Transcript: ENSMUST00000123826
AA Change: M315K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114993
Gene: ENSMUSG00000056153
AA Change: M315K

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 benign
Transcript: ENSMUST00000125362
AA Change: M315K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118764
Gene: ENSMUSG00000056153
AA Change: M315K

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,681,054 (GRCm39) R714Q possibly damaging Het
Abcb5 T A 12: 118,899,822 (GRCm39) I282L probably benign Het
Aox1 A T 1: 58,117,624 (GRCm39) E835D probably benign Het
Arhgap17 C T 7: 122,921,097 (GRCm39) probably null Het
Bltp1 T C 3: 37,092,666 (GRCm39) probably benign Het
Calcr C T 6: 3,693,718 (GRCm39) V359I probably benign Het
Chd9 T A 8: 91,741,895 (GRCm39) probably benign Het
Col28a1 T C 6: 8,017,029 (GRCm39) probably benign Het
Dnajc11 A G 4: 152,055,318 (GRCm39) E171G possibly damaging Het
Efhd1 T C 1: 87,192,406 (GRCm39) F79L possibly damaging Het
Fam83a A T 15: 57,856,473 (GRCm39) probably null Het
Fam98a A G 17: 75,847,100 (GRCm39) probably benign Het
Ficd A G 5: 113,876,314 (GRCm39) Y163C probably damaging Het
Filip1l T C 16: 57,327,167 (GRCm39) S66P probably damaging Het
Fmo5 A G 3: 97,542,909 (GRCm39) Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 (GRCm39) R574S possibly damaging Het
Klc3 C A 7: 19,128,987 (GRCm39) G461W probably damaging Het
Lmo7 A T 14: 102,149,515 (GRCm39) T973S possibly damaging Het
Loxl1 C A 9: 58,219,193 (GRCm39) G326V possibly damaging Het
Lrrc24 A G 15: 76,602,504 (GRCm39) V127A probably benign Het
Lyrm1 T C 7: 119,515,354 (GRCm39) probably benign Het
Med28 G A 5: 45,679,811 (GRCm39) V65I probably damaging Het
Mgat4c T C 10: 102,224,322 (GRCm39) Y179H probably damaging Het
Micall1 A C 15: 78,998,881 (GRCm39) N58T probably damaging Het
Mtcl3 T A 10: 29,074,945 (GRCm39) F911Y probably damaging Het
Ncoa4 T A 14: 31,895,377 (GRCm39) M72K possibly damaging Het
Nutm1 T C 2: 112,079,278 (GRCm39) Q879R probably benign Het
Or4d6 C T 19: 12,086,512 (GRCm39) V133I probably benign Het
Or8b12i T A 9: 20,082,463 (GRCm39) I135F probably damaging Het
Or8g52 T A 9: 39,631,331 (GRCm39) D269E probably benign Het
Phf11b T C 14: 59,562,373 (GRCm39) I177M probably damaging Het
Pin1rt1 T G 2: 104,545,052 (GRCm39) I27L probably benign Het
Plxna2 T C 1: 194,444,858 (GRCm39) V750A possibly damaging Het
Pou5f1 A T 17: 35,820,936 (GRCm39) N126I possibly damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rnf43 G T 11: 87,623,130 (GRCm39) G744* probably null Het
Rsbn1 C A 3: 103,860,945 (GRCm39) probably benign Het
Sars2 T A 7: 28,446,206 (GRCm39) I145N possibly damaging Het
Sh3tc2 A T 18: 62,144,951 (GRCm39) E1135V probably damaging Het
Shroom1 A G 11: 53,354,206 (GRCm39) D42G probably benign Het
Sidt2 A G 9: 45,853,981 (GRCm39) probably null Het
Slc39a8 T C 3: 135,592,558 (GRCm39) probably benign Het
Slc9c1 T C 16: 45,420,121 (GRCm39) S1059P probably benign Het
Speer2 T C 16: 69,654,865 (GRCm39) E200G probably damaging Het
Sult2a5 T A 7: 13,358,107 (GRCm39) probably null Het
Tmbim1 A T 1: 74,330,858 (GRCm39) I168N possibly damaging Het
Trim38 T C 13: 23,966,946 (GRCm39) V131A probably damaging Het
Ube2o A G 11: 116,432,468 (GRCm39) S833P probably damaging Het
Uggt2 T C 14: 119,312,758 (GRCm39) I350M probably damaging Het
Unc80 A G 1: 66,548,648 (GRCm39) D640G probably damaging Het
Vmn2r13 A G 5: 109,304,148 (GRCm39) F761S probably damaging Het
Vmn2r54 C T 7: 12,366,355 (GRCm39) C193Y probably damaging Het
Other mutations in Socs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03303:Socs6 APN 18 88,887,868 (GRCm39) missense probably damaging 1.00
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