Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Cish'

400618

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

042810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107173858-107179983 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 107177111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085102] [ENSMUST00000167072] [ENSMUST00000167072] [ENSMUST00000168260]

AlphaFold

Q62225

Predicted Effect

probably null
Transcript: ENSMUST00000085102

SMART Domains

Protein: ENSMUSP00000082183
Gene: ENSMUSG00000032578

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000167072

SMART Domains

Protein: ENSMUSP00000129941
Gene: ENSMUSG00000032578

Domain	Start	End	E-Value	Type
Pfam:SH2	49	103	4.8e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167072

SMART Domains

Protein: ENSMUSP00000129941
Gene: ENSMUSG00000032578

Domain	Start	End	E-Value	Type
Pfam:SH2	49	103	4.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171568

SMART Domains

Protein: ENSMUSP00000129149
Gene: ENSMUSG00000032578

Domain	Start	End	E-Value	Type
Pfam:SH2	49	77	4.8e-9	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nr2e3	G	T	9: 59,857,059 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or8g54	T	A	9: 39,707,492 (GRCm39)	S274T	probably damaging	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkdcc	C	A	17: 83,523,413 (GRCm39)	H173Q	probably damaging	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Smoc2	A	G	17: 14,589,227 (GRCm39)	N232S	probably benign	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r122	T	C	7: 20,868,023 (GRCm39)	T11A	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably damaging	Het

Other mutations in Cish

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1460:Cish	UTSW	9	107,177,596 (GRCm39)	nonsense	probably null
R5598:Cish	UTSW	9	107,174,227 (GRCm39)	missense	possibly damaging	0.90
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'- TCAGTGATTTGGGCAATACAGG -3'
(R):5'- TGGCTATGCACAGCAGATCC -3'

Sequencing Primer
(F):5'- TTAGCATGTACGAGCCTCAG -3'
(R):5'- TCAGGGTCTAGCACCTTCG -3'

Posted On

2016-07-06