Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Stat3'

31970

Institutional Source

Beutler Lab

Gene Symbol

Stat3

Ensembl Gene

ENSMUSG00000004040

Gene Name

signal transducer and activator of transcription 3

Synonyms

1110034C02Rik, Aprf

MMRRC Submission

038601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100777632-100830447 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 100780763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000107356] [ENSMUST00000107357] [ENSMUST00000127638] [ENSMUST00000138438]

AlphaFold

P42227

Predicted Effect

probably benign
Transcript: ENSMUST00000004145

SMART Domains

Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	138	330	6.9e-58	PFAM
Pfam:STAT_bind	332	583	2.4e-101	PFAM
SH2	587	688	7.64e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000092671

SMART Domains

Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040

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

probably benign
Transcript: ENSMUST00000103114

SMART Domains

Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040

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

probably benign
Transcript: ENSMUST00000107356

SMART Domains

Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	138	330	6.9e-58	PFAM
Pfam:STAT_bind	332	583	2.4e-101	PFAM
SH2	587	688	7.64e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107357

SMART Domains

Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043

Domain	Start	End	E-Value	Type
STAT_int	2	126	4.42e-62	SMART
Pfam:STAT_alpha	141	330	4.5e-57	PFAM
Pfam:STAT_bind	332	582	1e-104	PFAM
SH2	587	688	1.55e-6	SMART
low complexity region	713	729	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127638

SMART Domains

Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040

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

probably benign
Transcript: ENSMUST00000138438

SMART Domains

Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040

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: ENSMUST00000152601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146971

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

98% (103/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,837,470 (GRCm39)	K205R	possibly damaging	Het
9630041A04Rik	A	T	9: 101,819,934 (GRCm39)	N118I	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,765 (GRCm39)	V408A	probably benign	Het
Acsm2	G	A	7: 119,174,969 (GRCm39)	D245N	probably damaging	Het
Adgrv1	A	T	13: 81,534,072 (GRCm39)	H5836Q	probably benign	Het
Ahcyl2	T	C	6: 29,886,167 (GRCm39)	V391A	probably damaging	Het
Alcam	A	T	16: 52,130,227 (GRCm39)	M41K	probably benign	Het
Aldh3b3	A	C	19: 4,016,472 (GRCm39)	E363D	probably benign	Het
Alk	A	G	17: 72,910,526 (GRCm39)	V60A	probably damaging	Het
Als2cl	G	A	9: 110,727,152 (GRCm39)	R906H	probably damaging	Het
Ap5z1	T	C	5: 142,456,317 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,393,156 (GRCm39)	I547N	probably benign	Het
Apol10b	A	T	15: 77,469,840 (GRCm39)	D112E	probably damaging	Het
Ash1l	C	A	3: 88,965,896 (GRCm39)	R2433S	probably damaging	Het
Cachd1	T	C	4: 100,810,402 (GRCm39)	F335L	probably damaging	Het
Cbfa2t3	G	T	8: 123,365,690 (GRCm39)	Q181K	probably benign	Het
Cct6b	A	G	11: 82,630,506 (GRCm39)	M265T	probably benign	Het
Cd151	G	A	7: 141,050,304 (GRCm39)	V180I	probably damaging	Het
Ces1h	T	A	8: 94,083,706 (GRCm39)	N412I	unknown	Het
Chmp7	T	C	14: 69,969,905 (GRCm39)	T12A	probably benign	Het
Clasp1	A	G	1: 118,467,061 (GRCm39)	T534A	possibly damaging	Het
Cldn15	T	A	5: 136,997,052 (GRCm39)	V31E	possibly damaging	Het
Col16a1	G	A	4: 129,966,902 (GRCm39)	G583D	probably damaging	Het
Csmd1	T	C	8: 16,396,652 (GRCm39)	N426S	probably damaging	Het
Dapp1	C	T	3: 137,641,398 (GRCm39)	C199Y	possibly damaging	Het
Dchs1	A	G	7: 105,407,745 (GRCm39)	L2029P	probably damaging	Het
Dmc1	A	G	15: 79,472,973 (GRCm39)	F158S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Dthd1	T	A	5: 62,971,676 (GRCm39)	N166K	possibly damaging	Het
Enam	A	T	5: 88,649,367 (GRCm39)	Y292F	probably damaging	Het
Esrrg	A	T	1: 187,930,832 (GRCm39)	I285F	probably damaging	Het
Fam50b	A	G	13: 34,931,220 (GRCm39)	D232G	probably damaging	Het
Fam91a1	T	A	15: 58,326,641 (GRCm39)	S792T	probably benign	Het
Fbxw22	A	C	9: 109,210,753 (GRCm39)	C419W	probably damaging	Het
Flt4	G	A	11: 49,521,170 (GRCm39)	S393N	probably benign	Het
Fras1	A	T	5: 96,917,512 (GRCm39)	T3511S	possibly damaging	Het
Frat2	A	C	19: 41,836,263 (GRCm39)	S30A	probably damaging	Het
Glp1r	T	A	17: 31,155,312 (GRCm39)	M433K	probably benign	Het
Gm10300	G	A	4: 131,802,299 (GRCm39)		probably benign	Het
Gpatch4	A	G	3: 87,961,661 (GRCm39)		probably benign	Het
Gpr22	A	T	12: 31,759,461 (GRCm39)	S220R	possibly damaging	Het
Grn	T	C	11: 102,327,049 (GRCm39)	V549A	probably benign	Het
Gtf3c5	T	C	2: 28,467,930 (GRCm39)	D177G	probably damaging	Het
Htr1b	A	T	9: 81,513,704 (GRCm39)	M301K	probably benign	Het
Ifi207	A	T	1: 173,557,431 (GRCm39)	S436T	possibly damaging	Het
Ifnb1	A	T	4: 88,440,766 (GRCm39)	N82K	possibly damaging	Het
Ina	T	G	19: 47,010,358 (GRCm39)	N384K	probably damaging	Het
Kirrel2	T	C	7: 30,149,883 (GRCm39)	N541D	possibly damaging	Het
Lrp2	A	T	2: 69,263,421 (GRCm39)	I4377N	possibly damaging	Het
Lrrc37a	A	G	11: 103,355,221 (GRCm39)	V2532A	unknown	Het
Mast4	T	C	13: 102,871,781 (GRCm39)	E2529G	probably damaging	Het
Myh6	T	C	14: 55,183,777 (GRCm39)	H1719R	possibly damaging	Het
Myo5a	A	T	9: 75,101,259 (GRCm39)	H150L	probably benign	Het
Naglu	C	T	11: 100,964,933 (GRCm39)		probably benign	Het
Nags	G	A	11: 102,036,530 (GRCm39)	A40T	unknown	Het
Nav1	G	T	1: 135,460,359 (GRCm39)	Y321*	probably null	Het
Nav1	A	T	1: 135,460,361 (GRCm39)	Y321N	probably damaging	Het
Neu3	C	T	7: 99,462,985 (GRCm39)	S246N	probably benign	Het
Npy5r	C	T	8: 67,134,625 (GRCm39)	G56D	probably benign	Het
Nrxn1	A	G	17: 91,395,742 (GRCm39)	V138A	possibly damaging	Het
Nuggc	C	T	14: 65,850,921 (GRCm39)	Q264*	probably null	Het
Ogfod1	G	A	8: 94,790,156 (GRCm39)		probably null	Het
Or1o11	T	A	17: 37,756,757 (GRCm39)	F115Y	probably damaging	Het
Or2t45	A	T	11: 58,669,195 (GRCm39)	M81L	probably benign	Het
Or5b101	A	G	19: 13,005,663 (GRCm39)	F10S	probably damaging	Het
Or5p66	A	G	7: 107,885,478 (GRCm39)	V285A	probably benign	Het
Per1	T	A	11: 68,993,103 (GRCm39)	I340N	probably damaging	Het
Pkhd1	C	T	1: 20,451,771 (GRCm39)	A2175T	probably benign	Het
Pogk	A	G	1: 166,231,171 (GRCm39)	V52A	probably damaging	Het
Pou2af3	C	T	9: 51,191,834 (GRCm39)		probably benign	Het
Ppib	A	T	9: 65,973,601 (GRCm39)	T185S	possibly damaging	Het
Ptar1	G	T	19: 23,697,563 (GRCm39)	M358I	probably damaging	Het
Qser1	A	C	2: 104,593,226 (GRCm39)	I1597S	probably damaging	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Repin1	C	A	6: 48,574,459 (GRCm39)	R460S	probably damaging	Het
Sfmbt1	T	C	14: 30,509,574 (GRCm39)		probably benign	Het
Sh3rf1	C	T	8: 61,846,696 (GRCm39)		probably benign	Het
Shroom3	C	T	5: 92,928,762 (GRCm39)	R106C	probably damaging	Het
Siglecf	T	A	7: 43,005,399 (GRCm39)	V453D	probably damaging	Het
Slc2a9	A	G	5: 38,610,512 (GRCm39)	S96P	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Slf1	A	G	13: 77,254,088 (GRCm39)		probably benign	Het
Smad1	T	G	8: 80,076,411 (GRCm39)	K269T	probably benign	Het
Srp54b	G	A	12: 55,296,884 (GRCm39)	R194H	probably damaging	Het
St8sia6	T	A	2: 13,670,247 (GRCm39)	S238C	probably damaging	Het
Tafa2	A	T	10: 123,429,497 (GRCm39)	H37L	probably benign	Het
Tas1r2	T	A	4: 139,382,665 (GRCm39)	M101K	possibly damaging	Het
Tesc	A	G	5: 118,191,647 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,317,353 (GRCm39)	M334K	probably damaging	Het
Tmem151a	A	T	19: 5,132,261 (GRCm39)	V315E	probably damaging	Het
Tmprss2	T	C	16: 97,368,245 (GRCm39)	D480G	probably damaging	Het
Trmt1	C	A	8: 85,423,741 (GRCm39)		probably null	Het
Tsr3	T	C	17: 25,461,198 (GRCm39)		probably null	Het
Ube2u	A	G	4: 100,338,845 (GRCm39)	K37E	probably benign	Het
Usp16	T	A	16: 87,272,334 (GRCm39)	D382E	probably damaging	Het
Usp9y	A	T	Y: 1,340,053 (GRCm39)	F1442Y	probably damaging	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Utp25	T	C	1: 192,805,984 (GRCm39)	E187G	possibly damaging	Het
V1ra8	C	T	6: 90,179,991 (GRCm39)	L65F	possibly damaging	Het
Vmn2r10	T	C	5: 109,149,859 (GRCm39)	N395S	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp330	G	A	8: 83,491,511 (GRCm39)	Q221*	probably null	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
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
R5930:Stat3	UTSW	11	100,784,496 (GRCm39)	missense	possibly damaging	0.92
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'- GGTCACTCTGAGCACTAAACAAGCC -3'
(R):5'- GTCACAGGAGAAGCCTAACGCTAC -3'

Sequencing Primer
(F):5'- AGCCCAGCAGCTACCAG -3'
(R):5'- tgggaagcagaggcagg -3'

Posted On

2013-04-24