Mutagenetix > Incidental Mutation

Incidental Mutation 'R8679:Stat4'

661556

Institutional Source

Beutler Lab

Gene Symbol

Stat4

Ensembl Gene

ENSMUSG00000062939

Gene Name

signal transducer and activator of transcription 4

Synonyms

MMRRC Submission

068534-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R8679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52026307-52146348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52118991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 345 (R345G)

Ref Sequence

ENSEMBL: ENSMUSP00000027277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000168302]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000027277
AA Change: R345G

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

SMART Domains

Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: R345G

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.73e-60	SMART
Pfam:STAT_alpha	140	314	2.2e-54	PFAM
Pfam:STAT_bind	316	562	4.7e-76	PFAM
SH2	571	681	9.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168302
AA Change: R345G

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

SMART Domains

Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: R345G

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.73e-60	SMART
Pfam:STAT_alpha	137	314	8.2e-66	PFAM
Pfam:STAT_bind	316	563	3.3e-114	PFAM
SH2	571	681	9.07e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (91/93)

MGI Phenotype

FUNCTION: 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. Homozygous knockout mice for this gene exhibit reduced inflammation and cytokine production in response to immune challenge. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to altered cytokine production of T-cells, impaired IL-12 responses, enhanced Th2 cell development, decreased susceptibility to autoimmune diabetes, altered NK cell responses during viral infection, and increased susceptibility to Salmonella infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,152,479 (GRCm39)	T1356A	possibly damaging	Het
Ace3	A	G	11: 105,886,701 (GRCm39)	T154A	probably benign	Het
Arhgap31	C	A	16: 38,422,966 (GRCm39)	Q1033H	probably damaging	Het
C1qtnf1	C	T	11: 118,337,340 (GRCm39)	R57*	probably null	Het
Cacna1g	T	C	11: 94,319,962 (GRCm39)	T1405A	probably damaging	Het
Cacna1i	A	G	15: 80,260,011 (GRCm39)		probably benign	Het
Cdca4	T	A	12: 112,785,734 (GRCm39)		probably null	Het
Cpa4	T	A	6: 30,585,158 (GRCm39)	M314K	probably damaging	Het
Cpn2	A	T	16: 30,078,085 (GRCm39)	S539T	possibly damaging	Het
Crebbp	A	G	16: 3,902,322 (GRCm39)	S2306P	probably damaging	Het
Cspg4b	A	G	13: 113,488,163 (GRCm39)	R9G		Het
Dcaf5	T	C	12: 80,385,807 (GRCm39)	H773R	probably benign	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Dnah1	G	T	14: 30,989,767 (GRCm39)	R3250S	possibly damaging	Het
Dnajc25	A	C	4: 59,020,195 (GRCm39)	K206T	possibly damaging	Het
Dnajc27	T	C	12: 4,146,325 (GRCm39)	L118P	possibly damaging	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Faap100	A	G	11: 120,263,003 (GRCm39)	I785T	probably damaging	Het
Fam227b	A	T	2: 125,830,928 (GRCm39)	D425E	probably benign	Het
Fat4	C	G	3: 39,064,842 (GRCm39)	L4933V	probably damaging	Het
Fbrsl1	A	G	5: 110,526,086 (GRCm39)	F39L	probably damaging	Het
Fezf1	A	G	6: 23,247,769 (GRCm39)	V102A	probably benign	Het
Gabra2	T	C	5: 71,170,040 (GRCm39)		probably benign	Het
Garnl3	C	A	2: 32,916,106 (GRCm39)	R346L	probably damaging	Het
Grin2a	A	T	16: 9,403,089 (GRCm39)	I799N	possibly damaging	Het
Hspa4	A	G	11: 53,160,691 (GRCm39)	F462L	probably damaging	Het
Iars1	C	A	13: 49,856,675 (GRCm39)		probably benign	Het
Igkv6-32	C	T	6: 70,051,063 (GRCm39)	V98M	possibly damaging	Het
Il31ra	A	G	13: 112,662,372 (GRCm39)	F560S	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif2a	G	A	13: 107,116,049 (GRCm39)	T299I	probably damaging	Het
Leo1	T	A	9: 75,373,544 (GRCm39)	Y656*	probably null	Het
Lpcat2	T	A	8: 93,635,864 (GRCm39)	V422D	probably damaging	Het
Lrrcc1	T	A	3: 14,601,084 (GRCm39)	S39T	probably benign	Het
Macf1	A	T	4: 123,405,869 (GRCm39)	S341T	probably benign	Het
Mc2r	T	A	18: 68,540,879 (GRCm39)	Y138F	probably damaging	Het
Mepe	A	G	5: 104,485,754 (GRCm39)	N298S	possibly damaging	Het
Mmp15	C	A	8: 96,092,982 (GRCm39)	N120K	possibly damaging	Het
Mrps9	A	G	1: 42,918,915 (GRCm39)	R106G	probably damaging	Het
Muc16	T	A	9: 18,557,744 (GRCm39)	M2850L	unknown	Het
Mxra8	T	A	4: 155,927,122 (GRCm39)	I352N	probably damaging	Het
Myo16	G	A	8: 10,411,042 (GRCm39)	V167I	unknown	Het
Neb	T	C	2: 52,215,051 (GRCm39)	D209G	probably damaging	Het
Nlgn2	A	G	11: 69,716,309 (GRCm39)	V744A	probably benign	Het
Notch2	A	G	3: 98,029,218 (GRCm39)		probably null	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or14c42-ps1	A	T	7: 86,211,147 (GRCm39)	H69L	unknown	Het
Or5ak20	T	C	2: 85,183,953 (GRCm39)	T106A	probably benign	Het
Or5k16	G	A	16: 58,736,843 (GRCm39)	R54C	probably benign	Het
Or9k2b	T	C	10: 130,016,702 (GRCm39)	I16V	probably benign	Het
Oxa1l	A	G	14: 54,605,248 (GRCm39)		probably null	Het
Piwil4	T	C	9: 14,616,322 (GRCm39)	D15G		Het
Plcz1	C	A	6: 139,949,612 (GRCm39)	W461L	probably damaging	Het
Plek	A	T	11: 16,944,676 (GRCm39)	I118N	probably damaging	Het
Poc1b	C	A	10: 99,000,728 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,059,567 (GRCm39)	M64K	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Prss36	T	C	7: 127,532,635 (GRCm39)	T739A	possibly damaging	Het
Psme2	A	T	14: 55,827,074 (GRCm39)		probably null	Het
Ptprb	T	G	10: 116,203,495 (GRCm39)	V1802G	probably damaging	Het
Rabep2	C	A	7: 126,034,848 (GRCm39)	Y84*	probably null	Het
Rbbp6	T	G	7: 122,600,516 (GRCm39)	S1508A	unknown	Het
Rel	A	T	11: 23,692,430 (GRCm39)	D534E	probably benign	Het
Rpgrip1	G	A	14: 52,396,852 (GRCm39)	S1258N	probably damaging	Het
Rprml	T	C	11: 103,540,953 (GRCm39)	L116P	probably damaging	Het
Rsph10b	A	G	5: 143,887,112 (GRCm39)	T323A	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,099 (GRCm39)	H177R	probably damaging	Het
Sag	A	G	1: 87,738,032 (GRCm39)	T24A	probably benign	Het
Scgb2b26	G	T	7: 33,643,784 (GRCm39)	T52N	probably damaging	Het
Scn10a	T	C	9: 119,501,194 (GRCm39)	I197V	probably damaging	Het
Sec24c	T	A	14: 20,742,927 (GRCm39)	V1003D	possibly damaging	Het
Sirt2	G	A	7: 28,471,261 (GRCm39)	G30E	probably damaging	Het
Slc13a5	T	A	11: 72,149,919 (GRCm39)	Q197L	probably benign	Het
Slc44a3	A	T	3: 121,283,918 (GRCm39)	S445T	probably damaging	Het
Slc7a7	A	T	14: 54,610,449 (GRCm39)	V399E	probably benign	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Sorcs2	G	T	5: 36,196,657 (GRCm39)	Q663K	probably benign	Het
Sycp2	G	A	2: 177,992,768 (GRCm39)	R1261C	probably damaging	Het
Tcf19	T	C	17: 35,825,381 (GRCm39)	I259V	probably benign	Het
Thada	T	A	17: 84,536,637 (GRCm39)	R1636S	probably benign	Het
Tnrc6c	T	C	11: 117,604,961 (GRCm39)	L32P	probably benign	Het
Tonsl	G	A	15: 76,517,076 (GRCm39)	T881I	probably benign	Het
Tonsl	A	C	15: 76,518,263 (GRCm39)	C570G	probably damaging	Het
Ube2o	C	A	11: 116,432,273 (GRCm39)	E898*	probably null	Het
Usp5	T	C	6: 124,794,394 (GRCm39)	H762R	possibly damaging	Het
Vmn2r15	A	G	5: 109,434,779 (GRCm39)	S642P	probably benign	Het
Vmn2r23	T	C	6: 123,690,431 (GRCm39)	W436R	probably damaging	Het
Vps13d	A	C	4: 144,811,977 (GRCm39)	I3343M		Het
Wbp11	T	C	6: 136,799,932 (GRCm39)	K83E	probably damaging	Het
Zfp26	T	A	9: 20,356,201 (GRCm39)	N36Y	possibly damaging	Het
Zfp57	T	A	17: 37,320,938 (GRCm39)	I264N	probably damaging	Het

Other mutations in Stat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Stat4	APN	1	52,142,037 (GRCm39)	missense	probably damaging	1.00
IGL00482:Stat4	APN	1	52,113,856 (GRCm39)	missense	probably benign	0.05
IGL01395:Stat4	APN	1	52,051,033 (GRCm39)	missense	probably damaging	1.00
IGL01533:Stat4	APN	1	52,137,578 (GRCm39)	missense	probably damaging	1.00
IGL01943:Stat4	APN	1	52,136,014 (GRCm39)	missense	possibly damaging	0.94
IGL02114:Stat4	APN	1	52,142,024 (GRCm39)	missense	probably damaging	1.00
IGL02151:Stat4	APN	1	52,053,029 (GRCm39)	missense	probably damaging	0.99
IGL02601:Stat4	APN	1	52,137,574 (GRCm39)	missense	probably damaging	1.00
R0016:Stat4	UTSW	1	52,107,939 (GRCm39)	missense	probably benign	0.01
R0243:Stat4	UTSW	1	52,051,016 (GRCm39)	missense	probably benign	0.22
R0329:Stat4	UTSW	1	52,130,029 (GRCm39)	intron	probably benign
R0973:Stat4	UTSW	1	52,135,979 (GRCm39)	missense	probably damaging	0.99
R1144:Stat4	UTSW	1	52,123,288 (GRCm39)	splice site	probably benign
R1187:Stat4	UTSW	1	52,115,836 (GRCm39)	missense	probably damaging	1.00
R1331:Stat4	UTSW	1	52,053,086 (GRCm39)	missense	probably benign	0.20
R1401:Stat4	UTSW	1	52,111,106 (GRCm39)	splice site	probably benign
R1529:Stat4	UTSW	1	52,050,952 (GRCm39)	missense	probably damaging	1.00
R1711:Stat4	UTSW	1	52,146,084 (GRCm39)	missense	probably damaging	1.00
R2213:Stat4	UTSW	1	52,053,014 (GRCm39)	missense	probably damaging	0.98
R3003:Stat4	UTSW	1	52,142,145 (GRCm39)	missense	probably damaging	1.00
R3683:Stat4	UTSW	1	52,052,981 (GRCm39)	missense	possibly damaging	0.89
R3789:Stat4	UTSW	1	52,050,955 (GRCm39)	missense	probably benign	0.07
R3919:Stat4	UTSW	1	52,135,981 (GRCm39)	missense	possibly damaging	0.62
R4320:Stat4	UTSW	1	52,113,866 (GRCm39)	missense	probably benign
R4373:Stat4	UTSW	1	52,111,100 (GRCm39)	critical splice donor site	probably null
R5024:Stat4	UTSW	1	52,121,729 (GRCm39)	missense	possibly damaging	0.80
R5103:Stat4	UTSW	1	52,111,054 (GRCm39)	missense	probably damaging	0.97
R5206:Stat4	UTSW	1	52,144,395 (GRCm39)	missense	probably damaging	0.99
R5944:Stat4	UTSW	1	52,113,898 (GRCm39)	missense	probably damaging	1.00
R5961:Stat4	UTSW	1	52,104,543 (GRCm39)	missense	possibly damaging	0.50
R6001:Stat4	UTSW	1	52,136,026 (GRCm39)	missense	probably damaging	0.96
R6161:Stat4	UTSW	1	52,113,836 (GRCm39)	missense	possibly damaging	0.94
R6262:Stat4	UTSW	1	52,141,360 (GRCm39)	missense	probably null	1.00
R6701:Stat4	UTSW	1	52,142,133 (GRCm39)	missense	probably damaging	1.00
R6767:Stat4	UTSW	1	52,115,742 (GRCm39)	missense	probably benign	0.00
R6989:Stat4	UTSW	1	52,107,974 (GRCm39)	missense	probably benign	0.09
R7507:Stat4	UTSW	1	52,117,733 (GRCm39)	missense	probably damaging	1.00
R7539:Stat4	UTSW	1	52,110,868 (GRCm39)	splice site	probably null
R7546:Stat4	UTSW	1	52,137,622 (GRCm39)	missense	probably damaging	0.98
R7616:Stat4	UTSW	1	52,053,037 (GRCm39)	nonsense	probably null
R7751:Stat4	UTSW	1	52,121,711 (GRCm39)	missense	possibly damaging	0.73
R8052:Stat4	UTSW	1	52,118,932 (GRCm39)	missense	probably damaging	1.00
R8311:Stat4	UTSW	1	52,142,075 (GRCm39)	missense	probably damaging	1.00
R8419:Stat4	UTSW	1	52,137,637 (GRCm39)	missense	possibly damaging	0.89
R8699:Stat4	UTSW	1	52,111,096 (GRCm39)	missense	probably benign
R8738:Stat4	UTSW	1	52,115,711 (GRCm39)	missense	possibly damaging	0.95
R8921:Stat4	UTSW	1	52,144,892 (GRCm39)	missense	probably benign	0.39
R9013:Stat4	UTSW	1	52,050,957 (GRCm39)	missense	probably benign	0.00
R9237:Stat4	UTSW	1	52,146,073 (GRCm39)	missense	probably benign
R9729:Stat4	UTSW	1	52,141,762 (GRCm39)	missense	possibly damaging	0.94
R9767:Stat4	UTSW	1	52,141,653 (GRCm39)	missense	probably damaging	1.00
Z1177:Stat4	UTSW	1	52,137,644 (GRCm39)	missense	probably null	1.00
Z1177:Stat4	UTSW	1	52,123,258 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGATTTCAGCATCTCCTAGGTG -3'
(R):5'- AATTTCCCACGTTGTCATGC -3'

Sequencing Primer
(F):5'- CAGCATCTCCTAGGTGTAAAATG -3'
(R):5'- CACGTTGTCATGCTCTTGAC -3'

Posted On

2021-03-08