Incidental Mutation 'R8131:Socs6'
ID 632044
Institutional Source Beutler Lab
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
MMRRC Submission 067560-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.473) question?
Stock # R8131 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 88883293-88912623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88888169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 249 (S249A)
Ref Sequence ENSEMBL: ENSMUSP00000064929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070116] [ENSMUST00000123826] [ENSMUST00000125362] [ENSMUST00000145120] [ENSMUST00000147313]
AlphaFold Q9JLY0
Predicted Effect probably benign
Transcript: ENSMUST00000070116
AA Change: S249A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064929
Gene: ENSMUSG00000056153
AA Change: S249A

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: S249A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114993
Gene: ENSMUSG00000056153
AA Change: S249A

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: S249A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118764
Gene: ENSMUSG00000056153
AA Change: S249A

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: 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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A G 11: 70,506,834 (GRCm39) probably null Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Acan C T 7: 78,741,086 (GRCm39) P484L possibly damaging Het
Amotl2 T A 9: 102,597,615 (GRCm39) Y125N probably damaging Het
Apaf1 C A 10: 90,913,420 (GRCm39) V168F possibly damaging Het
Arhgap32 C T 9: 32,158,426 (GRCm39) H154Y probably damaging Het
B4galnt3 A G 6: 120,271,346 (GRCm39) probably null Het
Bahcc1 C T 11: 120,163,664 (GRCm39) A654V probably benign Het
Bcl11b T A 12: 107,931,967 (GRCm39) M202L probably benign Het
Cdc40 C A 10: 40,717,473 (GRCm39) R406L possibly damaging Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Col26a1 T C 5: 136,775,894 (GRCm39) D353G probably benign Het
Col6a5 T A 9: 105,778,815 (GRCm39) Q1682L unknown Het
Cul9 C T 17: 46,822,168 (GRCm39) G1819D probably damaging Het
Cyp2b10 C T 7: 25,614,242 (GRCm39) Q239* probably null Het
Dthd1 T A 5: 63,000,259 (GRCm39) I527N probably damaging Het
Dzip3 C T 16: 48,754,156 (GRCm39) probably null Het
Ecm2 A G 13: 49,671,940 (GRCm39) E147G probably benign Het
Ercc6l2 C T 13: 63,982,561 (GRCm39) T132M probably damaging Het
Esf1 G A 2: 139,990,751 (GRCm39) Q578* probably null Het
Gria4 C T 9: 4,502,429 (GRCm39) R368H probably benign Het
Hps5 T C 7: 46,421,312 (GRCm39) D717G probably benign Het
Hrh1 A T 6: 114,457,253 (GRCm39) D178V probably benign Het
Inppl1 T C 7: 101,479,268 (GRCm39) N537S possibly damaging Het
Itih1 T C 14: 30,663,521 (GRCm39) Y165C probably damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Larp4 T C 15: 99,892,570 (GRCm39) V255A probably damaging Het
Lrriq1 T G 10: 103,051,572 (GRCm39) R393S possibly damaging Het
Mep1a T A 17: 43,813,558 (GRCm39) I31L probably benign Het
Muc5b C T 7: 141,396,146 (GRCm39) T134I unknown Het
Neurl4 T C 11: 69,800,067 (GRCm39) Y1052H probably benign Het
Nlrc5 C G 8: 95,208,420 (GRCm39) N755K probably damaging Het
Nrde2 T C 12: 100,108,502 (GRCm39) K363R probably benign Het
Pcdhb12 T C 18: 37,570,335 (GRCm39) S494P possibly damaging Het
Pcnx1 C A 12: 81,965,292 (GRCm39) S486R possibly damaging Het
Pira13 T A 7: 3,825,161 (GRCm39) R494* probably null Het
Plrg1 T A 3: 82,977,081 (GRCm39) V374E probably damaging Het
Plxnb2 A G 15: 89,042,916 (GRCm39) I1491T probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn4a T C 11: 106,232,367 (GRCm39) E490G probably benign Het
Sec16a A G 2: 26,300,958 (GRCm39) V887A Het
Serpina3a T C 12: 104,082,467 (GRCm39) I80T probably damaging Het
Setd1b A T 5: 123,281,443 (GRCm39) I66F unknown Het
Slirp T A 12: 87,494,428 (GRCm39) probably null Het
Thoc2l A G 5: 104,669,027 (GRCm39) E1183G possibly damaging Het
Ttn A T 2: 76,616,077 (GRCm39) I16622N probably damaging Het
Uox A T 3: 146,331,589 (GRCm39) T237S probably damaging Het
Vmn2r43 T A 7: 8,258,326 (GRCm39) I296L probably benign Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vps13b T C 15: 35,372,255 (GRCm39) probably null Het
Vps13d A G 4: 144,882,707 (GRCm39) V962A Het
Other mutations in Socs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03062:Socs6 APN 18 88,887,970 (GRCm39) missense probably benign 0.11
IGL03303:Socs6 APN 18 88,887,868 (GRCm39) missense probably damaging 1.00
R5177:Socs6 UTSW 18 88,887,504 (GRCm39) nonsense probably null
R9027:Socs6 UTSW 18 88,888,852 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCGTCATCATGACCTCCTCTAG -3'
(R):5'- ATCCGCTCCACATCACTGAG -3'

Sequencing Primer
(F):5'- TAGGGCTCTGCAACATGACTC -3'
(R):5'- TCAACGGTGTGCGCAAG -3'
Posted On 2020-06-30