Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:Stat3'

460199

Institutional Source

Beutler Lab

Gene Symbol

Stat3

Ensembl Gene

ENSMUSG00000004040

Gene Name

signal transducer and activator of transcription 3

Synonyms

1110034C02Rik, Aprf

MMRRC Submission

044125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100777632-100830447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100784496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 602 (I602N)

Ref Sequence

ENSEMBL: ENSMUSP00000121677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000127638] [ENSMUST00000138438]

AlphaFold

P42227

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092671
AA Change: I628N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040
AA Change: I628N

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	138	319	2.2e-62	PFAM
Pfam:STAT_bind	321	574	1.8e-130	PFAM
SH2	582	663	2.84e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103114
AA Change: I628N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
AA Change: I628N

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	138	319	7.2e-62	PFAM
Pfam:STAT_bind	321	574	5.7e-130	PFAM
SH2	582	663	2.84e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127638
AA Change: I628N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040
AA Change: I628N

Domain	Start	End	E-Value	Type
STAT_int	2	122	3.03e-60	SMART
Pfam:STAT_alpha	141	319	6.8e-59	PFAM
Pfam:STAT_bind	321	573	2.5e-80	PFAM
SH2	582	663	2.84e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137367

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138438
AA Change: I602N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040
AA Change: I602N

Domain	Start	End	E-Value	Type
STAT_int	2	123	5.47e-35	SMART
coiled coil region	171	195	N/A	INTRINSIC
coiled coil region	243	265	N/A	INTRINSIC
Pfam:STAT_bind	295	548	9.2e-131	PFAM
SH2	556	637	2.84e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156645

Meta Mutation Damage Score

0.1569

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the STAT protein family. 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 is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 6.5-7.5. Conditional, tissue specific mutants are variably viable and show diverse defects including obesity, diabetes, thermal dysregulation and infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,545,570 (GRCm39)	V5572I	probably benign	Het
Agap1	C	T	1: 89,770,818 (GRCm39)	T656I	probably damaging	Het
Als2cl	C	T	9: 110,716,432 (GRCm39)	R247W	probably damaging	Het
Ankfy1	A	T	11: 72,603,071 (GRCm39)	R33S	probably benign	Het
Ano5	T	C	7: 51,235,079 (GRCm39)	F671L	probably damaging	Het
Arhgap26	A	G	18: 39,283,145 (GRCm39)	M361V	probably damaging	Het
Bckdk	A	G	7: 127,505,145 (GRCm39)	E175G	probably damaging	Het
Bptf	G	T	11: 106,964,022 (GRCm39)	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,670,398 (GRCm39)	I112F	probably damaging	Het
Cln8	T	A	8: 14,946,621 (GRCm39)	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119 (GRCm39)	E300G	probably benign	Het
Cnksr3	T	C	10: 7,092,993 (GRCm39)	I173V	probably benign	Het
Cntn2	T	A	1: 132,451,170 (GRCm39)	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,348,607 (GRCm39)	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,848,957 (GRCm39)	R275Q	possibly damaging	Het
Def8	C	T	8: 124,186,809 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,280 (GRCm39)	V356A	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,735,712 (GRCm39)	V1012A	probably benign	Het
Dus3l	T	A	17: 57,076,579 (GRCm39)	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,696,173 (GRCm39)	I362F	probably damaging	Het
Eeig2	A	T	3: 108,887,468 (GRCm39)	S265R	probably benign	Het
Erc2	T	A	14: 27,498,815 (GRCm39)	D230E	probably damaging	Het
Fat1	A	G	8: 45,497,073 (GRCm39)	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,241,052 (GRCm39)	F179S	probably damaging	Het
Fech	A	G	18: 64,611,720 (GRCm39)		probably null	Het
Fer1l5	T	A	1: 36,424,254 (GRCm39)	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756 (GRCm39)	D7V	probably benign	Het
Flvcr1	G	T	1: 190,741,748 (GRCm39)	T514K	probably damaging	Het
Fmo1	A	T	1: 162,667,185 (GRCm39)		probably null	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Gli3	A	G	13: 15,723,210 (GRCm39)	Y117C	probably damaging	Het
Gnao1	A	G	8: 94,622,873 (GRCm39)	D59G	probably benign	Het
Gria2	T	C	3: 80,614,556 (GRCm39)	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,754,811 (GRCm39)	H161Q	probably benign	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,329,895 (GRCm39)	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,663,882 (GRCm39)	N337S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,676,462 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Mchr1	T	C	15: 81,122,044 (GRCm39)	F265L	probably damaging	Het
Megf8	T	A	7: 25,025,866 (GRCm39)	Y83*	probably null	Het
Mettl18	A	G	1: 163,824,746 (GRCm39)	M356V	probably null	Het
Mrm1	G	A	11: 84,710,018 (GRCm39)	R61W	probably damaging	Het
Muc4	A	T	16: 32,570,523 (GRCm39)	T528S	probably benign	Het
Myef2	A	T	2: 124,937,651 (GRCm39)	L530*	probably null	Het
Nhlrc4	T	C	17: 26,162,693 (GRCm39)	E18G	probably benign	Het
Nisch	C	T	14: 30,895,102 (GRCm39)	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,724,975 (GRCm39)	R97H	probably damaging	Het
Nos2	T	C	11: 78,828,741 (GRCm39)	L321S	probably damaging	Het
Oaz3	T	C	3: 94,343,717 (GRCm39)	M49V	possibly damaging	Het
Olfm5	A	G	7: 103,803,362 (GRCm39)	V367A	probably damaging	Het
Omd	C	T	13: 49,743,112 (GRCm39)	P54L	possibly damaging	Het
Or10ak12	C	T	4: 118,666,575 (GRCm39)	R162H	probably benign	Het
Or11g26	C	A	14: 50,753,249 (GRCm39)	A196D	probably benign	Het
Or2g7	C	A	17: 38,378,641 (GRCm39)	A193D	probably benign	Het
Or51f23	A	T	7: 102,453,481 (GRCm39)	R265S	probably damaging	Het
Or7d10	A	G	9: 19,832,206 (GRCm39)	K234E	probably damaging	Het
Pard3b	T	A	1: 61,807,289 (GRCm39)		probably benign	Het
Pcdhb18	A	C	18: 37,624,988 (GRCm39)	I773L	possibly damaging	Het
Pde11a	T	C	2: 75,970,175 (GRCm39)		probably null	Het
Pfkfb4	A	C	9: 108,859,462 (GRCm39)		probably benign	Het
Phb2	T	G	6: 124,692,612 (GRCm39)	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,908,969 (GRCm39)	T345I	unknown	Het
Pla2g6	T	C	15: 79,187,728 (GRCm39)		probably benign	Het
Pou4f2	G	A	8: 79,163,020 (GRCm39)	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002 (GRCm39)		probably null	Het
Pramel5	A	G	4: 143,999,553 (GRCm39)	I178T	probably benign	Het
Prom2	C	T	2: 127,372,053 (GRCm39)	W745*	probably null	Het
Pros1	T	A	16: 62,748,424 (GRCm39)	N632K	probably damaging	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rbm25	T	A	12: 83,724,640 (GRCm39)	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,937,004 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,598,882 (GRCm39)	L97I	probably damaging	Het
Scart1	C	T	7: 139,810,359 (GRCm39)	P984S	probably benign	Het
Semp2l2a	T	A	8: 13,887,263 (GRCm39)	D276V	probably benign	Het
Sergef	T	A	7: 46,092,888 (GRCm39)	T374S	probably benign	Het
Sh3rf3	G	T	10: 58,966,808 (GRCm39)	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,707,157 (GRCm39)	T500I	possibly damaging	Het
Smc1b	T	A	15: 84,970,322 (GRCm39)	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,874,829 (GRCm39)	C902Y	probably benign	Het
St14	A	T	9: 31,015,056 (GRCm39)	V314D	probably damaging	Het
Stx4a	T	A	7: 127,445,661 (GRCm39)	I189N	probably damaging	Het
Tacc1	A	G	8: 25,672,215 (GRCm39)	S338P	probably benign	Het
Tcirg1	T	A	19: 3,952,424 (GRCm39)	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,503,926 (GRCm39)	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,505,409 (GRCm39)	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,637,323 (GRCm39)	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,582,937 (GRCm39)	Q237R	probably damaging	Het
Trim15	C	T	17: 37,173,252 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,070,657 (GRCm39)	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,288,075 (GRCm39)	E227G	probably benign	Het
Ttll13	A	G	7: 79,902,914 (GRCm39)	E194G	probably damaging	Het
Upf1	G	A	8: 70,796,912 (GRCm39)	T107I	probably benign	Het
Vac14	A	G	8: 111,436,981 (GRCm39)	I565V	probably damaging	Het
Zcchc14	A	T	8: 122,338,097 (GRCm39)		probably benign	Het

Other mutations in Stat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Stat3	APN	11	100,794,484 (GRCm39)	missense	possibly damaging	0.77
IGL02289:Stat3	APN	11	100,796,720 (GRCm39)	missense	possibly damaging	0.82
IGL03183:Stat3	APN	11	100,793,582 (GRCm39)	missense	possibly damaging	0.71
Cunegonde	UTSW	11	100,789,459 (GRCm39)	missense	probably damaging	0.99
monostatos	UTSW	11	100,785,931 (GRCm39)	missense	probably damaging	1.00
Pangloss	UTSW	11	100,784,496 (GRCm39)	missense	possibly damaging	0.92
Stamatios	UTSW	11	100,784,056 (GRCm39)	missense	probably damaging	1.00
Voltaire	UTSW	11	100,802,093 (GRCm39)	missense	probably damaging	0.99
R0143:Stat3	UTSW	11	100,785,982 (GRCm39)	missense	possibly damaging	0.89
R0395:Stat3	UTSW	11	100,780,763 (GRCm39)	splice site	probably benign
R0487:Stat3	UTSW	11	100,794,469 (GRCm39)	missense	probably damaging	1.00
R0589:Stat3	UTSW	11	100,798,909 (GRCm39)	missense	probably damaging	0.97
R0800:Stat3	UTSW	11	100,784,981 (GRCm39)	splice site	probably benign
R1393:Stat3	UTSW	11	100,779,591 (GRCm39)	splice site	probably null
R1927:Stat3	UTSW	11	100,785,655 (GRCm39)	missense	probably damaging	1.00
R3819:Stat3	UTSW	11	100,789,459 (GRCm39)	missense	probably damaging	0.99
R4037:Stat3	UTSW	11	100,783,951 (GRCm39)	missense	probably damaging	1.00
R4391:Stat3	UTSW	11	100,796,378 (GRCm39)	intron	probably benign
R4598:Stat3	UTSW	11	100,794,500 (GRCm39)	missense	probably damaging	1.00
R4637:Stat3	UTSW	11	100,784,056 (GRCm39)	missense	probably damaging	1.00
R5479:Stat3	UTSW	11	100,780,714 (GRCm39)	unclassified	probably benign
R5909:Stat3	UTSW	11	100,794,556 (GRCm39)	missense	probably benign	0.00
R5944:Stat3	UTSW	11	100,785,931 (GRCm39)	missense	probably damaging	1.00
R6002:Stat3	UTSW	11	100,794,569 (GRCm39)	missense	probably benign	0.01
R6431:Stat3	UTSW	11	100,780,400 (GRCm39)	missense	possibly damaging	0.79
R6816:Stat3	UTSW	11	100,802,093 (GRCm39)	missense	probably damaging	0.99
R8071:Stat3	UTSW	11	100,784,807 (GRCm39)	missense	probably benign
R8466:Stat3	UTSW	11	100,785,924 (GRCm39)	missense	probably damaging	1.00
R9146:Stat3	UTSW	11	100,784,492 (GRCm39)	missense	probably benign	0.26
R9337:Stat3	UTSW	11	100,798,815 (GRCm39)	critical splice donor site	probably null
R9419:Stat3	UTSW	11	100,784,738 (GRCm39)	missense	probably benign	0.03
R9419:Stat3	UTSW	11	100,780,357 (GRCm39)	missense	possibly damaging	0.90
R9564:Stat3	UTSW	11	100,784,614 (GRCm39)	missense	probably benign
R9682:Stat3	UTSW	11	100,785,593 (GRCm39)	missense	probably benign	0.01
X0033:Stat3	UTSW	11	100,783,918 (GRCm39)	missense	probably benign
Z1176:Stat3	UTSW	11	100,802,104 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCCGCAAATGTATTAACGGGG -3'
(R):5'- CCCTGTGTAACGAGTCACCTAC -3'

Sequencing Primer
(F):5'- CACACTTTTCTACACAAATGTTAGCC -3'
(R):5'- TACTCCCAGCAAGCCCGTG -3'

Posted On

2017-02-28