Mutagenetix > Incidental Mutations

Incidental Mutation 'R6036:Stat6'

479223

Institutional Source

Beutler Lab

Gene Symbol

Stat6

Ensembl Gene

ENSMUSG00000002147

Gene Name

signal transducer and activator of transcription 6

Synonyms

MMRRC Submission

043257-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127642986-127660957 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127655444 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 485 (N485D)

Ref Sequence

ENSEMBL: ENSMUSP00000089708 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092074
AA Change: N485D

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: N485D

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: ENSMUST00000145470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156231

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,832,858		probably benign	Het
Ago1	C	T	4: 126,443,228	R228H	probably damaging	Het
Alpk3	G	A	7: 81,093,257	V941M	probably benign	Het
Ano4	A	G	10: 88,982,265	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 44,098,831	Y464H	probably benign	Het
Barx2	A	T	9: 31,913,008	D28E	probably damaging	Het
Cabp5	A	T	7: 13,401,335	M67L	probably damaging	Het
Col10a1	A	G	10: 34,395,282	T417A	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,239,420	S227P	probably damaging	Het
Erv3	G	A	2: 131,856,005	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,014,322	T591A	possibly damaging	Het
F5	A	T	1: 164,184,996	E493V	probably damaging	Het
Gm8444	G	T	15: 81,843,593		probably benign	Het
Gria4	T	A	9: 4,537,646	I221L	probably benign	Het
Hc	T	C	2: 35,039,684	T249A	probably benign	Het
Herc2	A	G	7: 56,068,053	T48A	probably benign	Het
Hist1h2bl	A	T	13: 21,715,978	S56T	probably damaging	Het
Hp	A	G	8: 109,576,774		probably null	Het
Ifna15	T	G	4: 88,558,073	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,397,125	M262L	probably benign	Het
Krt83	A	C	15: 101,487,531	I320S	possibly damaging	Het
Megf10	A	G	18: 57,242,727	N242D	probably damaging	Het
Nup155	A	G	15: 8,128,411	T451A	probably benign	Het
Olfr1277	C	T	2: 111,269,612	G252R	probably damaging	Het
Olfr1288	T	C	2: 111,478,988	L68P	probably damaging	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr701	A	T	7: 106,818,460	I126F	probably damaging	Het
Olfr930	A	G	9: 38,930,920	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,305,209	P403S	probably damaging	Het
Piezo2	G	A	18: 63,114,948	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618	E191G	possibly damaging	Het
Pou4f2	A	T	8: 78,435,474	S167T	probably damaging	Het
Scd4	G	A	19: 44,344,792	D319N	probably damaging	Het
Senp2	A	T	16: 22,028,558	R279*	probably null	Het
Sh3rf3	G	A	10: 58,813,984	G137D	probably benign	Het
Simc1	C	T	13: 54,524,621	P261S	probably benign	Het
Slc26a1	T	A	5: 108,673,570	D151V	probably damaging	Het
Snx29	A	G	16: 11,738,437		probably null	Het
Stard9	C	T	2: 120,700,075	A2271V	probably benign	Het
Tpcn2	T	C	7: 145,268,869	T280A	possibly damaging	Het
Ttc23	A	G	7: 67,711,366	I378V	possibly damaging	Het
Ttc29	A	G	8: 78,325,576	D362G	probably benign	Het
Ttll7	A	G	3: 146,940,162	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,086	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,633,903	Q87R	probably damaging	Het
Wdfy4	G	T	14: 33,146,990	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,963,568	Y521H	probably damaging	Het

Other mutations in Stat6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Stat6	APN	10	127654932	missense	probably damaging	1.00
IGL01785:Stat6	APN	10	127657227	missense	probably damaging	1.00
IGL02939:Stat6	APN	10	127646940	missense	probably benign	0.05
IGL03266:Stat6	APN	10	127657155	missense	possibly damaging	0.88
IGL03412:Stat6	APN	10	127658205	missense	probably benign	0.00
Rigid	UTSW	10	127658702	critical splice donor site	probably null
Stationary	UTSW	10	127652222	missense	possibly damaging	0.93
PIT4142001:Stat6	UTSW	10	127658230	missense	possibly damaging	0.95
R0165:Stat6	UTSW	10	127657227	missense	probably damaging	0.98
R0581:Stat6	UTSW	10	127648116	missense	probably damaging	0.99
R0735:Stat6	UTSW	10	127658241	missense	probably damaging	1.00
R1333:Stat6	UTSW	10	127651225	missense	possibly damaging	0.62
R1352:Stat6	UTSW	10	127650811	missense	probably benign	0.32
R1457:Stat6	UTSW	10	127658245	missense	probably damaging	0.98
R1538:Stat6	UTSW	10	127653256	missense	probably damaging	1.00
R1696:Stat6	UTSW	10	127653049	missense	probably damaging	1.00
R2016:Stat6	UTSW	10	127650796	missense	probably damaging	1.00
R3236:Stat6	UTSW	10	127652222	missense	possibly damaging	0.93
R3980:Stat6	UTSW	10	127655379	missense	probably damaging	1.00
R4467:Stat6	UTSW	10	127651228	missense	probably damaging	1.00
R5346:Stat6	UTSW	10	127652313	missense	probably benign	0.44
R5481:Stat6	UTSW	10	127647826	splice site	probably null
R5722:Stat6	UTSW	10	127658373	missense	probably benign	0.00
R6036:Stat6	UTSW	10	127655444	missense	possibly damaging	0.58
R6244:Stat6	UTSW	10	127657712	splice site	probably null
R6914:Stat6	UTSW	10	127651262	missense	probably damaging	1.00
R6937:Stat6	UTSW	10	127658702	critical splice donor site	probably null
R6942:Stat6	UTSW	10	127651262	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26