Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Stat4'

391189

Institutional Source

Beutler Lab

Gene Symbol

Stat4

Ensembl Gene

ENSMUSG00000062939

Gene Name

signal transducer and activator of transcription 4

Synonyms

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51987148-52107189 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52082570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 363 (I363V)

Ref Sequence

ENSEMBL: ENSMUSP00000130713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027277
AA Change: I363V

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: I363V

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

possibly damaging
Transcript: ENSMUST00000168302
AA Change: I363V

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: I363V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185516

Meta Mutation Damage Score

0.2464

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,171,895 (GRCm38)	N575S	probably damaging	Het
Akap6	C	T	12: 53,142,562 (GRCm38)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,506,440 (GRCm38)	N289K	probably damaging	Het
Armc4	T	C	18: 7,088,555 (GRCm38)	M1005V	probably benign	Het
Atad2b	A	C	12: 4,937,534 (GRCm38)	T121P	probably benign	Het
Atp4a	A	C	7: 30,715,864 (GRCm38)	D303A	possibly damaging	Het
BC005561	A	G	5: 104,522,258 (GRCm38)	K1549E	possibly damaging	Het
Calu	A	T	6: 29,374,519 (GRCm38)		probably benign	Het
Ccdc141	A	C	2: 77,054,703 (GRCm38)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,399,614 (GRCm38)		probably null	Het
Cd207	G	A	6: 83,674,319 (GRCm38)	T218I	probably damaging	Het
Cd2ap	A	C	17: 42,805,345 (GRCm38)		probably null	Het
Clip3	G	A	7: 30,292,219 (GRCm38)		probably benign	Het
Clstn1	G	A	4: 149,635,294 (GRCm38)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,321,348 (GRCm38)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,736,096 (GRCm38)	E2033V	probably damaging	Het
Eng	T	G	2: 32,673,392 (GRCm38)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm38)	W57*	probably null	Het
Etv1	T	A	12: 38,854,234 (GRCm38)		probably null	Het
Eva1c	T	C	16: 90,876,193 (GRCm38)		probably null	Het
Fam196a	A	G	7: 134,918,478 (GRCm38)	S108P	probably damaging	Het
Fam221b	T	A	4: 43,659,674 (GRCm38)	N482I	probably damaging	Het
Fam83h	T	C	15: 76,005,142 (GRCm38)	H202R	probably damaging	Het
Fbxw13	T	C	9: 109,179,335 (GRCm38)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,663,374 (GRCm38)		probably null	Het
Frmd3	T	A	4: 74,098,144 (GRCm38)	S99T	probably benign	Het
Gm5155	A	G	7: 17,910,682 (GRCm38)	I575V	probably benign	Het
Gm5174	G	T	10: 86,656,587 (GRCm38)		noncoding transcript	Het
Gm6904	T	C	14: 59,258,483 (GRCm38)		probably null	Het
Gm815	C	T	19: 26,887,775 (GRCm38)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,138,487 (GRCm38)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,470,326 (GRCm38)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,864,489 (GRCm38)		probably null	Het
Hjurp	A	T	1: 88,275,050 (GRCm38)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,680,688 (GRCm38)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,863,793 (GRCm38)	H33N	probably benign	Het
Il6	T	C	5: 30,019,514 (GRCm38)	L184P	probably damaging	Het
Impg2	T	A	16: 56,260,100 (GRCm38)	S756T	probably damaging	Het
Kank4	T	G	4: 98,785,661 (GRCm38)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,406,591 (GRCm38)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,537 (GRCm38)	T349S	probably benign	Het
Keap1	A	G	9: 21,237,226 (GRCm38)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,483,093 (GRCm38)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,448,985 (GRCm38)		probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,239,369 (GRCm38)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,554,006 (GRCm38)	L608Q	probably benign	Het
Lyst	T	C	13: 13,634,404 (GRCm38)	S220P	probably benign	Het
M1ap	A	G	6: 83,028,358 (GRCm38)		probably benign	Het
Mbd6	C	T	10: 127,286,441 (GRCm38)	V173I	probably benign	Het
Myo5b	A	T	18: 74,716,034 (GRCm38)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,951,016 (GRCm38)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Olfr1040	G	T	2: 86,146,533 (GRCm38)	A67E	probably damaging	Het
Olfr1062	C	T	2: 86,423,461 (GRCm38)	G72S	possibly damaging	Het
Olfr292	A	T	7: 86,694,881 (GRCm38)	M142L	probably benign	Het
Olfr318	T	A	11: 58,720,950 (GRCm38)	I33F	probably benign	Het
Otud6b	T	A	4: 14,826,293 (GRCm38)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,471,636 (GRCm38)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,183,589 (GRCm38)	D343V	possibly damaging	Het
Ppp1r12b	G	T	1: 134,955,733 (GRCm38)	A17E	probably benign	Het
Pramef20	C	A	4: 144,373,308 (GRCm38)	E296*	probably null	Het
Ranbp9	A	T	13: 43,434,855 (GRCm38)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 29,148,407 (GRCm38)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,490,488 (GRCm38)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,301,271 (GRCm38)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm38)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,145,595 (GRCm38)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,797,479 (GRCm38)		probably benign	Het
Slc12a1	A	G	2: 125,166,137 (GRCm38)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,453,908 (GRCm38)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm38)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 45,259,966 (GRCm38)	M185I	probably benign	Het
Tgfb1i1	G	T	7: 128,248,217 (GRCm38)	M1I	probably null	Het
Tmem225	T	C	9: 40,149,343 (GRCm38)	V66A	probably benign	Het
Tmtc4	T	C	14: 122,941,302 (GRCm38)		probably null	Het
Trpc4	T	A	3: 54,194,796 (GRCm38)	N38K	probably benign	Het
Ttll12	A	T	15: 83,587,113 (GRCm38)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,948,425 (GRCm38)		probably null	Het
Tulp1	A	C	17: 28,351,995 (GRCm38)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,864,322 (GRCm38)	V299A	probably damaging	Het
Washc4	C	A	10: 83,583,336 (GRCm38)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,154,936 (GRCm38)	D221G	probably benign	Het
Zan	A	T	5: 137,461,893 (GRCm38)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,691,669 (GRCm38)	S773A	probably benign	Het

Other mutations in Stat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Stat4	APN	1	52,102,878 (GRCm38)	missense	probably damaging	1.00
IGL00482:Stat4	APN	1	52,074,697 (GRCm38)	missense	probably benign	0.05
IGL01395:Stat4	APN	1	52,011,874 (GRCm38)	missense	probably damaging	1.00
IGL01533:Stat4	APN	1	52,098,419 (GRCm38)	missense	probably damaging	1.00
IGL01943:Stat4	APN	1	52,096,855 (GRCm38)	missense	possibly damaging	0.94
IGL02114:Stat4	APN	1	52,102,865 (GRCm38)	missense	probably damaging	1.00
IGL02151:Stat4	APN	1	52,013,870 (GRCm38)	missense	probably damaging	0.99
IGL02601:Stat4	APN	1	52,098,415 (GRCm38)	missense	probably damaging	1.00
R0016:Stat4	UTSW	1	52,068,780 (GRCm38)	missense	probably benign	0.01
R0243:Stat4	UTSW	1	52,011,857 (GRCm38)	missense	probably benign	0.22
R0329:Stat4	UTSW	1	52,090,870 (GRCm38)	intron	probably benign
R0973:Stat4	UTSW	1	52,096,820 (GRCm38)	missense	probably damaging	0.99
R1144:Stat4	UTSW	1	52,084,129 (GRCm38)	splice site	probably benign
R1187:Stat4	UTSW	1	52,076,677 (GRCm38)	missense	probably damaging	1.00
R1331:Stat4	UTSW	1	52,013,927 (GRCm38)	missense	probably benign	0.20
R1401:Stat4	UTSW	1	52,071,947 (GRCm38)	splice site	probably benign
R1529:Stat4	UTSW	1	52,011,793 (GRCm38)	missense	probably damaging	1.00
R1711:Stat4	UTSW	1	52,106,925 (GRCm38)	missense	probably damaging	1.00
R2213:Stat4	UTSW	1	52,013,855 (GRCm38)	missense	probably damaging	0.98
R3003:Stat4	UTSW	1	52,102,986 (GRCm38)	missense	probably damaging	1.00
R3683:Stat4	UTSW	1	52,013,822 (GRCm38)	missense	possibly damaging	0.89
R3789:Stat4	UTSW	1	52,011,796 (GRCm38)	missense	probably benign	0.07
R3919:Stat4	UTSW	1	52,096,822 (GRCm38)	missense	possibly damaging	0.62
R4320:Stat4	UTSW	1	52,074,707 (GRCm38)	missense	probably benign
R4373:Stat4	UTSW	1	52,071,941 (GRCm38)	critical splice donor site	probably null
R5103:Stat4	UTSW	1	52,071,895 (GRCm38)	missense	probably damaging	0.97
R5206:Stat4	UTSW	1	52,105,236 (GRCm38)	missense	probably damaging	0.99
R5944:Stat4	UTSW	1	52,074,739 (GRCm38)	missense	probably damaging	1.00
R5961:Stat4	UTSW	1	52,065,384 (GRCm38)	missense	possibly damaging	0.50
R6001:Stat4	UTSW	1	52,096,867 (GRCm38)	missense	probably damaging	0.96
R6161:Stat4	UTSW	1	52,074,677 (GRCm38)	missense	possibly damaging	0.94
R6262:Stat4	UTSW	1	52,102,201 (GRCm38)	missense	probably null	1.00
R6701:Stat4	UTSW	1	52,102,974 (GRCm38)	missense	probably damaging	1.00
R6767:Stat4	UTSW	1	52,076,583 (GRCm38)	missense	probably benign	0.00
R6989:Stat4	UTSW	1	52,068,815 (GRCm38)	missense	probably benign	0.09
R7507:Stat4	UTSW	1	52,078,574 (GRCm38)	missense	probably damaging	1.00
R7539:Stat4	UTSW	1	52,071,709 (GRCm38)	splice site	probably null
R7546:Stat4	UTSW	1	52,098,463 (GRCm38)	missense	probably damaging	0.98
R7616:Stat4	UTSW	1	52,013,878 (GRCm38)	nonsense	probably null
R7751:Stat4	UTSW	1	52,082,552 (GRCm38)	missense	possibly damaging	0.73
R8052:Stat4	UTSW	1	52,079,773 (GRCm38)	missense	probably damaging	1.00
R8311:Stat4	UTSW	1	52,102,916 (GRCm38)	missense	probably damaging	1.00
R8419:Stat4	UTSW	1	52,098,478 (GRCm38)	missense	possibly damaging	0.89
R8679:Stat4	UTSW	1	52,079,832 (GRCm38)	missense	probably null	1.00
R8699:Stat4	UTSW	1	52,071,937 (GRCm38)	missense	probably benign
R8738:Stat4	UTSW	1	52,076,552 (GRCm38)	missense	possibly damaging	0.95
R8921:Stat4	UTSW	1	52,105,733 (GRCm38)	missense	probably benign	0.39
R9013:Stat4	UTSW	1	52,011,798 (GRCm38)	missense	probably benign	0.00
R9237:Stat4	UTSW	1	52,106,914 (GRCm38)	missense	probably benign
R9729:Stat4	UTSW	1	52,102,603 (GRCm38)	missense	possibly damaging	0.94
R9767:Stat4	UTSW	1	52,102,494 (GRCm38)	missense	probably damaging	1.00
Z1177:Stat4	UTSW	1	52,098,485 (GRCm38)	missense	probably null	1.00
Z1177:Stat4	UTSW	1	52,084,099 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTACCAGTAAAGTCACAGAG -3'
(R):5'- ACGTGAGTTCCACAAAGCAC -3'

Sequencing Primer
(F):5'- GGTACCAGTAAAGTCACAGAGCAAAC -3'
(R):5'- GCACAAATCTTCTATTGCTAGGGAG -3'

Posted On

2016-06-06