Mutagenetix > Incidental Mutation

Incidental Mutation 'R2016:Stat6'

223056

Institutional Source

Beutler Lab

Gene Symbol

Stat6

Ensembl Gene

ENSMUSG00000002147

Gene Name

signal transducer and activator of transcription 6

Synonyms

MMRRC Submission

040025-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127478855-127496826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127486665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 147 (L147P)

Ref Sequence

ENSEMBL: ENSMUSP00000089708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092074] [ENSMUST00000120279]

AlphaFold

P52633

Predicted Effect

probably damaging
Transcript: ENSMUST00000092074
AA Change: L147P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: L147P

Domain	Start	End	E-Value	Type
STAT_int	2	116	2.76e-31	SMART
Pfam:STAT_bind	273	526	4.4e-87	PFAM
SH2	540	622	1.33e-5	SMART
Pfam:STAT6_C	655	837	1.1e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120279

SMART Domains

Protein: ENSMUSP00000112722
Gene: ENSMUSG00000002147

Domain	Start	End	E-Value	Type
Pfam:STAT_int	2	109	2.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128072

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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 is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired IL4 responses, including anti-IgM stimulated B cell proliferation, class switching to IgE, contact sensitivity, and Th2 cytokine production, and show increased resistance to certain infections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abca8a	A	G	11: 109,961,213 (GRCm39)	F570L	probably damaging	Het
Adck1	T	A	12: 88,427,862 (GRCm39)	I493N	probably damaging	Het
Adra2c	T	C	5: 35,437,656 (GRCm39)	C143R	probably damaging	Het
Afg2a	T	C	3: 37,632,911 (GRCm39)	V839A	possibly damaging	Het
Akap13	C	T	7: 75,354,279 (GRCm39)	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcam	G	A	7: 19,494,274 (GRCm39)	T374M	probably benign	Het
Blm	T	C	7: 80,155,674 (GRCm39)	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,215,331 (GRCm39)	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,152,856 (GRCm39)	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,921,133 (GRCm39)	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Ddr2	T	C	1: 169,812,537 (GRCm39)	M652V	probably damaging	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Efl1	A	C	7: 82,402,917 (GRCm39)	D673A	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Erap1	T	C	13: 74,812,270 (GRCm39)	W362R	probably damaging	Het
Fam234a	A	G	17: 26,437,290 (GRCm39)	F91L	probably benign	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Garin5b	A	T	7: 4,762,397 (GRCm39)	I244N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnl3	A	G	14: 30,738,326 (GRCm39)		probably null	Het
Has1	A	T	17: 18,068,532 (GRCm39)	I274N	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Itsn1	T	C	16: 91,702,389 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kif13a	T	C	13: 46,964,275 (GRCm39)	D475G	probably benign	Het
Klhl20	A	T	1: 160,930,608 (GRCm39)	M298K	probably damaging	Het
Kynu	G	T	2: 43,494,289 (GRCm39)	G241*	probably null	Het
Lrif1	G	T	3: 106,639,522 (GRCm39)	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,660,056 (GRCm39)	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,311,393 (GRCm39)	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Mettl25	T	A	10: 105,633,167 (GRCm39)	E425D	probably benign	Het
Midn	G	T	10: 79,985,949 (GRCm39)	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,777,713 (GRCm39)	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,817,187 (GRCm39)	V61M	probably damaging	Het
Nalcn	T	C	14: 123,831,993 (GRCm39)		probably null	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252 (GRCm39)	C595Y	probably damaging	Het
Or10d4	A	G	9: 39,580,851 (GRCm39)	Y166C	probably damaging	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or4l15	A	G	14: 50,197,959 (GRCm39)	I190T	probably benign	Het
Or5w1b	C	T	2: 87,476,396 (GRCm39)	V24M	probably benign	Het
Or8b1	A	T	9: 38,399,309 (GRCm39)		probably null	Het
Pds5a	T	A	5: 65,805,350 (GRCm39)		probably null	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,913,722 (GRCm39)	V244M	probably damaging	Het
Plk1	A	G	7: 121,761,663 (GRCm39)	K257R	probably damaging	Het
Prkcg	A	T	7: 3,372,066 (GRCm39)	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,894,156 (GRCm39)	H138Y	probably damaging	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Pwwp2b	A	T	7: 138,836,067 (GRCm39)	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Sall1	A	G	8: 89,755,037 (GRCm39)	V1314A	probably benign	Het
Sema6c	A	G	3: 95,078,545 (GRCm39)	I549V	probably benign	Het
Slc17a1	A	G	13: 24,062,522 (GRCm39)	S230G	probably benign	Het
Slc5a4a	T	G	10: 75,989,414 (GRCm39)	F106V	probably benign	Het
Taar7d	T	A	10: 23,903,642 (GRCm39)	S175T	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tmem132b	A	G	5: 125,700,080 (GRCm39)	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,061 (GRCm39)	D231G	probably benign	Het
Trim66	A	G	7: 109,071,439 (GRCm39)		probably null	Het
Ttll9	A	T	2: 152,844,214 (GRCm39)	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,056,493 (GRCm39)	D548E	probably damaging	Het
Zcchc2	T	A	1: 105,931,851 (GRCm39)		probably null	Het
Zfp282	T	A	6: 47,874,721 (GRCm39)		probably null	Het
Zfp352	A	G	4: 90,113,408 (GRCm39)	E516G	probably benign	Het

Other mutations in Stat6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Stat6	APN	10	127,490,801 (GRCm39)	missense	probably damaging	1.00
IGL01785:Stat6	APN	10	127,493,096 (GRCm39)	missense	probably damaging	1.00
IGL02939:Stat6	APN	10	127,482,809 (GRCm39)	missense	probably benign	0.05
IGL03266:Stat6	APN	10	127,493,024 (GRCm39)	missense	possibly damaging	0.88
IGL03412:Stat6	APN	10	127,494,074 (GRCm39)	missense	probably benign	0.00
Rigid	UTSW	10	127,494,571 (GRCm39)	critical splice donor site	probably null
Stationary	UTSW	10	127,488,091 (GRCm39)	missense	possibly damaging	0.93
PIT4142001:Stat6	UTSW	10	127,494,099 (GRCm39)	missense	possibly damaging	0.95
R0165:Stat6	UTSW	10	127,493,096 (GRCm39)	missense	probably damaging	0.98
R0581:Stat6	UTSW	10	127,483,985 (GRCm39)	missense	probably damaging	0.99
R0735:Stat6	UTSW	10	127,494,110 (GRCm39)	missense	probably damaging	1.00
R1333:Stat6	UTSW	10	127,487,094 (GRCm39)	missense	possibly damaging	0.62
R1352:Stat6	UTSW	10	127,486,680 (GRCm39)	missense	probably benign	0.32
R1457:Stat6	UTSW	10	127,494,114 (GRCm39)	missense	probably damaging	0.98
R1538:Stat6	UTSW	10	127,489,125 (GRCm39)	missense	probably damaging	1.00
R1696:Stat6	UTSW	10	127,488,918 (GRCm39)	missense	probably damaging	1.00
R3236:Stat6	UTSW	10	127,488,091 (GRCm39)	missense	possibly damaging	0.93
R3980:Stat6	UTSW	10	127,491,248 (GRCm39)	missense	probably damaging	1.00
R4467:Stat6	UTSW	10	127,487,097 (GRCm39)	missense	probably damaging	1.00
R5346:Stat6	UTSW	10	127,488,182 (GRCm39)	missense	probably benign	0.44
R5481:Stat6	UTSW	10	127,483,695 (GRCm39)	splice site	probably null
R5722:Stat6	UTSW	10	127,494,242 (GRCm39)	missense	probably benign	0.00
R6036:Stat6	UTSW	10	127,491,313 (GRCm39)	missense	possibly damaging	0.58
R6036:Stat6	UTSW	10	127,491,313 (GRCm39)	missense	possibly damaging	0.58
R6244:Stat6	UTSW	10	127,493,581 (GRCm39)	splice site	probably null
R6914:Stat6	UTSW	10	127,487,131 (GRCm39)	missense	probably damaging	1.00
R6937:Stat6	UTSW	10	127,494,571 (GRCm39)	critical splice donor site	probably null
R6942:Stat6	UTSW	10	127,487,131 (GRCm39)	missense	probably damaging	1.00
R8231:Stat6	UTSW	10	127,482,842 (GRCm39)	missense	possibly damaging	0.61
R8995:Stat6	UTSW	10	127,494,511 (GRCm39)	missense	probably benign	0.00
R9162:Stat6	UTSW	10	127,487,089 (GRCm39)	missense	probably damaging	0.99
R9192:Stat6	UTSW	10	127,493,479 (GRCm39)	missense	probably damaging	1.00
R9252:Stat6	UTSW	10	127,483,661 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAACTTCTGTGGAGGGGTAGAG -3'
(R):5'- TGGACCAGGACCATTGACAG -3'

Sequencing Primer
(F):5'- CTTCTGTGGAGGGGTAGAGGTAAAC -3'
(R):5'- CAGGAGGGTCTATCAAATTCTGC -3'

Posted On

2014-08-25