Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Stat6'

259037

Institutional Source

Beutler Lab

Gene Symbol

Stat6

Ensembl Gene

ENSMUSG00000002147

Gene Name

signal transducer and activator of transcription 6

Synonyms

MMRRC Submission

040618-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.741) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127478855-127496826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127488091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 282 (V282I)

Ref Sequence

ENSEMBL: ENSMUSP00000089708 (fasta)

Gene Model

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

AlphaFold

P52633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092074
AA Change: V282I

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: V282I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156231

Meta Mutation Damage Score

0.5222

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slc1a3	T	C	15: 8,668,607 (GRCm39)	I453V	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	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
R2016:Stat6	UTSW	10	127,486,665 (GRCm39)	missense	probably damaging	1.00
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'- TGAAGTCCTGCGAACCCTTG -3'
(R):5'- GGTTCCATTCTTTATGAAGCCAACC -3'

Sequencing Primer
(F):5'- GAACCCTTGTGACCAGGTATATAC -3'
(R):5'- TTCTCCAACCCAGGGCCAG -3'

Posted On

2015-01-23