Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Stat1'

402398

Institutional Source

Beutler Lab

Gene Symbol

Stat1

Ensembl Gene

ENSMUSG00000026104

Gene Name

signal transducer and activator of transcription 1

Synonyms

2010005J02Rik

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52119440-52161865 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52144242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 389 (V389E)

Ref Sequence

ENSEMBL: ENSMUSP00000140875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000189347] [ENSMUST00000191435]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070968
AA Change: V389E

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

SMART Domains

Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	2.5e-61	SMART
Pfam:STAT_alpha	139	315	1.4e-56	PFAM
Pfam:STAT_bind	317	566	4.2e-82	PFAM
SH2	571	687	1.59e-1	SMART
Pfam:STAT1_TAZ2bind	715	739	2.4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185516

Predicted Effect

probably damaging
Transcript: ENSMUST00000186057
AA Change: V389E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	2.5e-61	SMART
Pfam:STAT_alpha	136	315	3.4e-65	PFAM
Pfam:STAT_bind	317	573	3.9e-118	PFAM
SH2	577	693	1.59e-1	SMART
Pfam:STAT1_TAZ2bind	721	745	2.3e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186574
AA Change: V389E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	1.9e-65	SMART
Pfam:STAT_alpha	136	315	3.3e-62	PFAM
Pfam:STAT_bind	317	567	1.1e-118	PFAM
SH2	571	687	1e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186857
AA Change: V389E

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

SMART Domains

Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	2.5e-61	SMART
Pfam:STAT_alpha	136	315	1.2e-64	PFAM
Pfam:STAT_bind	317	567	4.4e-121	PFAM
SH2	571	687	1.59e-1	SMART
Pfam:STAT1_TAZ2bind	715	739	3.1e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189347
AA Change: V389E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	1.9e-65	SMART
Pfam:STAT_alpha	136	315	3.3e-62	PFAM
Pfam:STAT_bind	317	567	1.1e-118	PFAM
SH2	571	687	1e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191435
AA Change: V389E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: V389E

Domain	Start	End	E-Value	Type
STAT_int	2	122	1.9e-65	SMART
Pfam:STAT_alpha	136	315	3.3e-62	PFAM
Pfam:STAT_bind	317	567	1.1e-118	PFAM
SH2	571	687	1e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Stat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Stat1	APN	1	52122595	start codon destroyed	probably null	0.50
IGL01111:Stat1	APN	1	52142961	critical splice donor site	probably null
IGL01451:Stat1	APN	1	52139343	missense	probably damaging	1.00
IGL01469:Stat1	APN	1	52147370	missense	possibly damaging	0.87
IGL01758:Stat1	APN	1	52136921	missense	probably damaging	1.00
IGL01818:Stat1	APN	1	52151278	missense	probably damaging	1.00
IGL01913:Stat1	APN	1	52126557	missense	probably benign	0.08
IGL01914:Stat1	APN	1	52126557	missense	probably benign	0.08
IGL02304:Stat1	APN	1	52132544	missense	probably benign
IGL02428:Stat1	APN	1	52142966	splice site	probably benign
Accretion	UTSW	1	52135621	missense	possibly damaging	0.65
Aspect	UTSW	1	52151249	missense	probably benign	0.01
baroque	UTSW	1	52144209	missense	probably damaging	1.00
Compounding	UTSW	1	52151281	missense	probably benign	0.17
domino	UTSW	1	52140588	missense	probably damaging	1.00
h_moll	UTSW	1	52139194	nonsense	probably null
kun_ming	UTSW	1	52137416	missense	possibly damaging	0.52
kuomintang	UTSW	1	52151245	missense	possibly damaging	0.51
poison	UTSW	1	52151225	splice site	probably benign
roccoco	UTSW	1	52123209	missense	probably damaging	1.00
rollo	UTSW	1	52153923	nonsense	probably null
Sedimentary	UTSW	1	52139229	missense	probably damaging	1.00
special	UTSW	1	52139264	missense	probably damaging	1.00
vandegraff	UTSW	1	52155019	missense	probably benign	0.01
R0022:Stat1	UTSW	1	52140630	missense	probably damaging	1.00
R0022:Stat1	UTSW	1	52140630	missense	probably damaging	1.00
R0039:Stat1	UTSW	1	52140660	missense	probably damaging	0.99
R0458:Stat1	UTSW	1	52149052	splice site	probably benign
R1313:Stat1	UTSW	1	52156006	missense	probably damaging	0.98
R1313:Stat1	UTSW	1	52156006	missense	probably damaging	0.98
R2998:Stat1	UTSW	1	52151249	missense	probably benign	0.01
R4464:Stat1	UTSW	1	52137416	missense	possibly damaging	0.52
R4709:Stat1	UTSW	1	52126521	missense	probably damaging	0.97
R4934:Stat1	UTSW	1	52153923	nonsense	probably null
R5038:Stat1	UTSW	1	52123209	missense	probably damaging	1.00
R5075:Stat1	UTSW	1	52122712	missense	possibly damaging	0.73
R5600:Stat1	UTSW	1	52148942	missense	probably benign	0.06
R5866:Stat1	UTSW	1	52139264	missense	probably damaging	1.00
R7105:Stat1	UTSW	1	52151249	missense	probably benign	0.01
R7192:Stat1	UTSW	1	52135621	missense	possibly damaging	0.65
R7284:Stat1	UTSW	1	52148922	missense	probably benign	0.01
R7309:Stat1	UTSW	1	52126621	splice site	probably null
R7491:Stat1	UTSW	1	52152371	missense	probably benign	0.31
R7680:Stat1	UTSW	1	52144209	missense	probably damaging	1.00
R7825:Stat1	UTSW	1	52151308	missense	probably damaging	0.98
R7915:Stat1	UTSW	1	52151281	missense	probably benign	0.17
R8245:Stat1	UTSW	1	52155019	missense	probably benign	0.01
R8309:Stat1	UTSW	1	52151245	missense	possibly damaging	0.51
R8728:Stat1	UTSW	1	52139194	nonsense	probably null
R8952:Stat1	UTSW	1	52147883	missense	probably benign	0.01
R9054:Stat1	UTSW	1	52142927	missense	probably damaging	1.00
R9156:Stat1	UTSW	1	52139229	missense	probably damaging	1.00
R9209:Stat1	UTSW	1	52145178	missense	probably benign
R9252:Stat1	UTSW	1	52135672	missense	probably benign	0.03
R9337:Stat1	UTSW	1	52152270	missense	probably benign	0.00
R9388:Stat1	UTSW	1	52153878	missense	possibly damaging	0.81
R9530:Stat1	UTSW	1	52148001	critical splice donor site	probably null
R9648:Stat1	UTSW	1	52126536	missense	probably damaging	0.98
RF036:Stat1	UTSW	1	52152260	missense	probably benign
RF060:Stat1	UTSW	1	52152260	missense	probably benign
X0027:Stat1	UTSW	1	52139271	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACAGTGTAGATGAGCCC -3'
(R):5'- TCTACTGAGGTCCGTACAGC -3'

Sequencing Primer
(F):5'- ATGAGACCAGTCTTACTCTGCAG -3'
(R):5'- CACAGCCAGGAGACTCAGG -3'

Posted On

2016-07-22