Mutagenetix > Incidental Mutation

Incidental Mutation 'R1711:Stat4'

190510

Institutional Source

Beutler Lab

Gene Symbol

Stat4

Ensembl Gene

ENSMUSG00000062939

Gene Name

signal transducer and activator of transcription 4

Synonyms

MMRRC Submission

039744-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51987148-52107189 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52106925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 746 (S746P)

Ref Sequence

ENSEMBL: ENSMUSP00000130713 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027277
AA Change: S746P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: S746P

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: S746P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: S746P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210323

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920 (GRCm38)	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573 (GRCm38)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm38)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624 (GRCm38)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974 (GRCm38)		probably null	Het
Ap3s2	A	T	7: 79,880,490 (GRCm38)	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979 (GRCm38)		probably null	Het
Arhgap5	A	G	12: 52,519,345 (GRCm38)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm38)	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865 (GRCm38)	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486 (GRCm38)	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056 (GRCm38)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978 (GRCm38)	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609 (GRCm38)	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342 (GRCm38)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536 (GRCm38)	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020 (GRCm38)	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,474,286 (GRCm38)	V281L	probably benign	Het
Clu	G	T	14: 65,980,905 (GRCm38)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213 (GRCm38)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374 (GRCm38)		probably null	Het
Ctr9	T	C	7: 111,055,663 (GRCm38)	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810 (GRCm38)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891 (GRCm38)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712 (GRCm38)	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610 (GRCm38)	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497 (GRCm38)	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571 (GRCm38)	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926 (GRCm38)	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693 (GRCm38)	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831 (GRCm38)	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915 (GRCm38)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308 (GRCm38)		probably benign	Het
Ercc6	T	C	14: 32,526,176 (GRCm38)	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247 (GRCm38)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414 (GRCm38)	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479 (GRCm38)	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460 (GRCm38)	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688 (GRCm38)	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406 (GRCm38)	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026 (GRCm38)	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952 (GRCm38)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm38)	R476I	probably benign	Het
Hars	A	G	18: 36,771,103 (GRCm38)	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903 (GRCm38)	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246 (GRCm38)	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592 (GRCm38)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525 (GRCm38)	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158 (GRCm38)	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522 (GRCm38)	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619 (GRCm38)	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461 (GRCm38)	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157 (GRCm38)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569 (GRCm38)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621 (GRCm38)	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058 (GRCm38)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276 (GRCm38)	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352 (GRCm38)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422 (GRCm38)	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735 (GRCm38)		probably null	Het
Mylk3	T	A	8: 85,364,831 (GRCm38)	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754 (GRCm38)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336 (GRCm38)	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306 (GRCm38)	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999 (GRCm38)	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162 (GRCm38)	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699 (GRCm38)	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760 (GRCm38)	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285 (GRCm38)	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218 (GRCm38)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852 (GRCm38)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327 (GRCm38)	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518 (GRCm38)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794 (GRCm38)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511 (GRCm38)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409 (GRCm38)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714 (GRCm38)		probably null	Het
Pik3c2a	A	T	7: 116,417,927 (GRCm38)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310 (GRCm38)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492 (GRCm38)	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406 (GRCm38)	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699 (GRCm38)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519 (GRCm38)	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981 (GRCm38)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101 (GRCm38)	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293 (GRCm38)	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289 (GRCm38)	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748 (GRCm38)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096 (GRCm38)	Y61F	probably benign	Het
Son	A	G	16: 91,660,226 (GRCm38)		probably benign	Het
Sparc	T	A	11: 55,395,776 (GRCm38)		probably null	Het
Spon2	A	G	5: 33,216,385 (GRCm38)	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042 (GRCm38)	E2136G	probably damaging	Het
Stk31	T	A	6: 49,469,304 (GRCm38)	S958R	probably benign	Het
Stom	T	A	2: 35,315,917 (GRCm38)	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477 (GRCm38)	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926 (GRCm38)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm38)	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837 (GRCm38)	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585 (GRCm38)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744 (GRCm38)	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561 (GRCm38)	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720 (GRCm38)	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097 (GRCm38)	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037 (GRCm38)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128 (GRCm38)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684 (GRCm38)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148 (GRCm38)	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673 (GRCm38)	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889 (GRCm38)	M191V	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
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
R5024:Stat4	UTSW	1	52,082,570 (GRCm38)	missense	possibly damaging	0.80
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'- GGCCACAGGTCCAATGGTATTCAG -3'
(R):5'- GCACCAAGTGAGAAGAGAGCTTCC -3'

Sequencing Primer
(F):5'- gctaactttaactcaccaagcc -3'
(R):5'- TGAGAAGAGAGCTTCCAACTTCC -3'

Posted On

2014-05-14