Incidental Mutation 'R5598:Cish'
ID 437928
Institutional Source Beutler Lab
Gene Symbol Cish
Ensembl Gene ENSMUSG00000032578
Gene Name cytokine inducible SH2-containing protein
Synonyms cytokine-inducible SH2 protein, CIS1, F23, Cis
MMRRC Submission 043150-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5598 (G1)
Quality Score 210
Status Not validated
Chromosome 9
Chromosomal Location 107173858-107179983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107174227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 5 (V5A)
Ref Sequence ENSEMBL: ENSMUSP00000082183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085102] [ENSMUST00000167072] [ENSMUST00000168260]
AlphaFold Q62225
Predicted Effect possibly damaging
Transcript: ENSMUST00000085102
AA Change: V5A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082183
Gene: ENSMUSG00000032578
AA Change: V5A

DomainStartEndE-ValueType
SH2 80 169 8.36e-21 SMART
SOCS 213 254 1.49e-17 SMART
SOCS_box 219 253 9.58e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165664
Predicted Effect possibly damaging
Transcript: ENSMUST00000167072
AA Change: V5A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129941
Gene: ENSMUSG00000032578
AA Change: V5A

DomainStartEndE-ValueType
Pfam:SH2 49 103 4.8e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168260
AA Change: V5A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171568
SMART Domains Protein: ENSMUSP00000129149
Gene: ENSMUSG00000032578

DomainStartEndE-ValueType
Pfam:SH2 49 77 4.8e-9 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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 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 IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced Th2 and Th9 differentiation and allergic airway inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,025,645 (GRCm39) D550G probably damaging Het
Ano6 A G 15: 95,839,228 (GRCm39) T457A probably damaging Het
Ano8 A G 8: 71,935,221 (GRCm39) V359A probably damaging Het
Aqp2 G T 15: 99,476,993 (GRCm39) probably benign Het
Atp13a5 C T 16: 29,075,829 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccr1l1 A G 9: 123,778,030 (GRCm39) V139A probably benign Het
Cecr2 A G 6: 120,708,407 (GRCm39) probably null Het
Celsr2 A G 3: 108,310,119 (GRCm39) V1537A possibly damaging Het
Chd6 T A 2: 160,856,032 (GRCm39) K741N probably damaging Het
Chrna1 T A 2: 73,397,075 (GRCm39) T405S probably benign Het
Cmss1 C A 16: 57,131,649 (GRCm39) C159F probably damaging Het
Col1a2 A G 6: 4,516,916 (GRCm39) probably benign Het
Cradd G T 10: 95,011,666 (GRCm39) S158* probably null Het
Dmxl1 G A 18: 49,997,545 (GRCm39) A578T probably benign Het
Drd2 A G 9: 49,318,315 (GRCm39) N419S possibly damaging Het
E4f1 T C 17: 24,666,103 (GRCm39) T232A probably damaging Het
Fat2 T A 11: 55,171,956 (GRCm39) E2919V probably damaging Het
Gc T C 5: 89,586,309 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hsd11b2 G A 8: 106,249,143 (GRCm39) V173I probably benign Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Kif18b G A 11: 102,799,015 (GRCm39) P729S possibly damaging Het
Lgi1 A G 19: 38,294,629 (GRCm39) D467G possibly damaging Het
Loxl1 A G 9: 58,219,650 (GRCm39) Y174H possibly damaging Het
Mtus1 A T 8: 41,475,592 (GRCm39) I824N probably damaging Het
Myrf C T 19: 10,192,654 (GRCm39) E622K probably benign Het
Ncam1 A G 9: 49,457,051 (GRCm39) Y416H probably damaging Het
Nceh1 A G 3: 27,280,248 (GRCm39) T132A probably benign Het
Nhlrc4 G A 17: 26,162,466 (GRCm39) P94S probably damaging Het
Or2v1 C G 11: 49,025,941 (GRCm39) D307E probably benign Het
Or52s1b A T 7: 102,822,841 (GRCm39) M1K probably null Het
Or8b1 A T 9: 38,399,821 (GRCm39) R165S possibly damaging Het
Pcdhac2 A G 18: 37,277,476 (GRCm39) Y152C probably damaging Het
Pdia3 C A 2: 121,244,611 (GRCm39) T8K possibly damaging Het
Pogz T A 3: 94,771,820 (GRCm39) V304E probably damaging Het
Snrnp200 A G 2: 127,068,007 (GRCm39) S835G possibly damaging Het
Susd4 T C 1: 182,719,635 (GRCm39) S417P probably benign Het
Thsd7b G A 1: 129,523,578 (GRCm39) R127H probably damaging Het
Tmco4 A G 4: 138,781,216 (GRCm39) D460G probably damaging Het
Ttll9 T A 2: 152,826,234 (GRCm39) M148K probably damaging Het
Ubn2 G A 6: 38,467,323 (GRCm39) C677Y probably benign Het
Vmn2r98 T C 17: 19,301,161 (GRCm39) I721T probably benign Het
Wdfy4 C A 14: 32,855,454 (GRCm39) C720F probably damaging Het
Zzef1 G A 11: 72,807,347 (GRCm39) D2742N probably damaging Het
Other mutations in Cish
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1460:Cish UTSW 9 107,177,596 (GRCm39) nonsense probably null
R5239:Cish UTSW 9 107,177,111 (GRCm39) splice site probably null
R7706:Cish UTSW 9 107,177,840 (GRCm39) missense probably benign 0.01
R8003:Cish UTSW 9 107,174,227 (GRCm39) missense possibly damaging 0.90
R8821:Cish UTSW 9 107,177,671 (GRCm39) missense probably damaging 0.96
R8831:Cish UTSW 9 107,177,671 (GRCm39) missense probably damaging 0.96
R9568:Cish UTSW 9 107,177,593 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CGGTTCTAGGAAGATGAGGC -3'
(R):5'- CCGTTTCCCTATCCATACGAAG -3'

Sequencing Primer
(F):5'- TGAGGCTTCCGGGAAGG -3'
(R):5'- CATACGAAGTGTGTGTGGGTATCC -3'
Posted On 2016-10-26