Incidental Mutation 'IGL03062:Socs6'
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ID409510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Socs6
Ensembl Gene ENSMUSG00000056153
Gene Namesuppressor of cytokine signaling 6
Synonyms5830401B18Rik, Cish4, SOCS-4, 1500012M23Rik, STATI4, STAT4, STAI4, SSI4, Socs4, HSPC060, CIS4, SOCS-6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.420) question?
Stock #IGL03062
Quality Score
Status
Chromosome18
Chromosomal Location88665224-88927481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88869846 bp
ZygosityHeterozygous
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]
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
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Klc3 C A 7: 19,395,062 G461W probably damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Loxl1 C A 9: 58,311,910 G326V possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Lyrm1 T C 7: 119,916,131 probably benign Het
Med28 G A 5: 45,522,469 V65I probably damaging Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Tmbim1 A T 1: 74,291,699 I168N possibly damaging Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Socs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03303:Socs6 APN 18 88869744 missense probably damaging 1.00
R5177:Socs6 UTSW 18 88869380 nonsense probably null
Posted On2016-08-02