Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Stat6'

434337

Institutional Source

Beutler Lab

Gene Symbol

Stat6

Ensembl Gene

ENSMUSG00000002147

Gene Name

signal transducer and activator of transcription 6

Synonyms

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R5481 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

127478855-127496826 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 127483695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112722 (fasta)

Gene Model

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

AlphaFold

P52633

Predicted Effect

probably null
Transcript: ENSMUST00000092074

SMART Domains

Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147

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 null
Transcript: ENSMUST00000120279

SMART Domains

Protein: ENSMUSP00000112722
Gene: ENSMUSG00000002147

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

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,759 (GRCm39)	S187P	probably damaging	Het
Aass	C	A	6: 23,113,475 (GRCm39)	V282L	probably benign	Het
Adh6a	G	T	3: 138,031,719 (GRCm39)	V204F	probably damaging	Het
Adrm1b	A	G	3: 92,336,658 (GRCm39)	S15P	possibly damaging	Het
Aspm	A	G	1: 139,384,799 (GRCm39)	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,610,846 (GRCm39)	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,805,352 (GRCm39)	Y114H	probably damaging	Het
BC106179	T	A	16: 23,042,918 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,570,900 (GRCm39)	L792P	probably benign	Het
Calcoco2	A	G	11: 95,998,369 (GRCm39)	V18A	probably damaging	Het
Chpf2	A	T	5: 24,794,340 (GRCm39)	H170L	probably damaging	Het
Chrna1	T	A	2: 73,397,270 (GRCm39)	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,402,792 (GRCm39)	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,271,660 (GRCm39)	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,466,246 (GRCm39)	T350P	probably damaging	Het
Dgkq	A	G	5: 108,796,676 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,030,828 (GRCm39)	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,408,349 (GRCm39)	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,357 (GRCm39)	D138G	probably benign	Het
Fen1	A	G	19: 10,178,022 (GRCm39)	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,216 (GRCm39)	G390D	probably damaging	Het
Fnip1	C	A	11: 54,393,470 (GRCm39)	D635E	probably benign	Het
Fry	A	T	5: 150,183,784 (GRCm39)	L17F	probably benign	Het
Fsip2	T	C	2: 82,810,230 (GRCm39)	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,027,951 (GRCm39)	I19N	probably damaging	Het
Hus1b	T	C	13: 31,130,942 (GRCm39)	D239G	probably benign	Het
Kif1a	T	C	1: 92,987,966 (GRCm39)	K546R	probably benign	Het
Kmt2d	A	G	15: 98,759,886 (GRCm39)	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,876,153 (GRCm39)	I417T	probably damaging	Het
Manba	A	T	3: 135,230,317 (GRCm39)	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,193,078 (GRCm39)	D140G	probably damaging	Het
Mlh1	T	C	9: 111,058,905 (GRCm39)		probably null	Het
Morc1	T	A	16: 48,381,848 (GRCm39)		probably null	Het
Morc3	C	A	16: 93,659,543 (GRCm39)	P449Q	probably damaging	Het
Mtr	T	C	13: 12,203,041 (GRCm39)		probably null	Het
Mylk	T	A	16: 34,741,974 (GRCm39)	C829S	probably benign	Het
Myo1d	A	G	11: 80,553,921 (GRCm39)	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nos1	A	T	5: 118,005,819 (GRCm39)	I180F	probably benign	Het
Ntsr1	C	T	2: 180,183,313 (GRCm39)	T341M	possibly damaging	Het
Or8b51	A	T	9: 38,568,916 (GRCm39)	F257L	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Peli2	C	A	14: 48,490,090 (GRCm39)	N136K	probably damaging	Het
Pigt	C	A	2: 164,348,342 (GRCm39)	P429H	probably damaging	Het
Pik3r2	T	C	8: 71,222,408 (GRCm39)	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,422,042 (GRCm39)	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,575,221 (GRCm39)	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,510,744 (GRCm39)	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,318,498 (GRCm39)	S355R	probably damaging	Het
Sema4a	A	T	3: 88,360,347 (GRCm39)	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,222,076 (GRCm39)	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,314,201 (GRCm39)	N495S	probably benign	Het
Srcap	G	A	7: 127,131,369 (GRCm39)	G836D	probably damaging	Het
Stard4	A	C	18: 33,338,298 (GRCm39)	C137W	probably benign	Het
Steap3	T	C	1: 120,169,454 (GRCm39)	D243G	probably benign	Het
Taf1c	A	G	8: 120,325,979 (GRCm39)	S628P	probably damaging	Het
Unkl	C	T	17: 25,420,146 (GRCm39)	Q13*	probably null	Het
Usp38	A	G	8: 81,719,952 (GRCm39)	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,949,636 (GRCm39)	T404A	probably benign	Het
Washc1	T	C	17: 66,425,860 (GRCm39)	V425A	probably benign	Het
Zfyve9	A	G	4: 108,501,546 (GRCm39)	I590T	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
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
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'- TGAGTGAAGTTGACCGGAGC -3'
(R):5'- CATGTGCAAACTGTTAGAGAGCATAAG -3'

Sequencing Primer
(F):5'- AGATCTTTAGAGAAGTCCTGGCC -3'
(R):5'- ACTGTTAGAGAGCATAAGCATAGATC -3'

Posted On

2016-10-06