Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Stat2'

587916

Institutional Source

Beutler Lab

Gene Symbol

Stat2

Ensembl Gene

ENSMUSG00000040033

Gene Name

signal transducer and activator of transcription 2

Synonyms

1600010G07Rik

MMRRC Submission

Accession Numbers

Genbank: NM_019963.1; Ensembl: ENSMUST00000085708

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128270559-128292849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128277197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 119 (N119K)

Ref Sequence

ENSEMBL: ENSMUSP00000100872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085708] [ENSMUST00000105238]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085708
AA Change: N119K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: N119K

Domain	Start	End	E-Value	Type
STAT_int	2	124	4.49e-54	SMART
Pfam:STAT_alpha	138	314	5e-52	PFAM
Pfam:STAT_bind	316	564	1.2e-96	PFAM
SH2	576	652	4.71e-6	SMART
internal_repeat_1	750	778	6.35e-10	PROSPERO
internal_repeat_1	822	850	6.35e-10	PROSPERO
Pfam:STAT2_C	853	907	1.1e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105238
AA Change: N119K

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: N119K

Domain	Start	End	E-Value	Type
STAT_int	2	124	4.49e-54	SMART
Pfam:STAT_alpha	141	314	2.6e-49	PFAM
Pfam:STAT_bind	316	564	1.5e-67	PFAM
SH2	577	653	4.71e-6	SMART
internal_repeat_1	751	779	6.69e-10	PROSPERO
internal_repeat_1	823	851	6.69e-10	PROSPERO
Pfam:STAT2_C	854	908	1.7e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Immune response is impaired in homozygous null mice. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4) Chemically induced(1)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,381,835	H321L	probably damaging	Het
Adamts3	T	C	5: 89,861,397	S136G	probably benign	Het
Apba3	T	A	10: 81,272,346	N445K	probably damaging	Het
Aqp6	A	G	15: 99,603,771	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,500,343	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,214,151	I379T	probably damaging	Het
Ccdc169	A	G	3: 55,140,109	D7G	probably damaging	Het
Cyp2f2	T	A	7: 27,131,359		probably null	Het
Daam2	T	A	17: 49,480,727	K453*	probably null	Het
Dennd4c	T	C	4: 86,811,612	L817P	probably damaging	Het
Efcab6	T	A	15: 83,870,988	R1376W	probably damaging	Het
Esrra	G	T	19: 6,913,846	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,226,876	V392E	probably damaging	Het
Fanca	A	G	8: 123,271,260	V1229A	probably benign	Het
Fdps	G	T	3: 89,099,386	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,627,589	D1269E	probably benign	Het
Foxred1	G	A	9: 35,205,636	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,967,624	V226I	possibly damaging	Het
Gcnt2	C	A	13: 40,860,867	C171*	probably null	Het
Glyat	C	A	19: 12,639,808	A8E	probably damaging	Het
Golgb1	C	A	16: 36,875,396	R86S	unknown	Het
Hc	T	A	2: 35,050,419	T136S	probably damaging	Het
Hdac1	G	T	4: 129,517,466	S421*	probably null	Het
Hmcn2	G	T	2: 31,356,286	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,193,587	N54S	probably benign	Het
Impad1	G	A	4: 4,778,207	T177I	probably damaging	Het
Itgae	T	A	11: 73,121,960	V706E	possibly damaging	Het
Itgax	G	A	7: 128,148,090	V992M	probably damaging	Het
Klk10	A	G	7: 43,784,427	D221G	probably benign	Het
Klkb1	T	C	8: 45,278,113	I205V	probably benign	Het
Kpna2	T	C	11: 106,998,757	N8S	probably null	Het
L3mbtl1	A	C	2: 162,964,514	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,661,549	C4181Y		Het
Mcat	T	C	15: 83,547,671	Y332C	probably damaging	Het
Mecom	T	C	3: 29,956,385	D648G	probably damaging	Het
Mesp2	A	T	7: 79,810,969	D14V	probably damaging	Het
Mlh3	A	T	12: 85,268,199	Y404*	probably null	Het
Mterf3	A	T	13: 66,917,148	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,512,062	V602A	probably benign	Het
Olfr1247	T	A	2: 89,609,227	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,374,660	F209L	probably damaging	Het
Pmp22	C	A	11: 63,158,348	A139D	probably damaging	Het
Polr2e	T	C	10: 80,038,570	D34G	possibly damaging	Het
Ppard	T	A	17: 28,297,117	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,850,745	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,519	A1536V	not run	Het
Rabgap1	TGGGG	TGGG	2: 37,502,896		probably null	Het
Retreg1	T	A	15: 25,971,641	D222E	probably benign	Het
Rmnd1	T	C	10: 4,413,404	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sall3	C	T	18: 80,972,052	R887H	possibly damaging	Het
Samd3	A	G	10: 26,263,813	D281G	probably benign	Het
Scube1	T	A	15: 83,613,452	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 130,040,811		probably benign	Het
Slc2a2	A	G	3: 28,698,017	M1V	probably null	Het
Slc39a2	A	T	14: 51,895,031	T144S	probably benign	Het
Slc5a9	T	C	4: 111,877,740	H619R	probably benign	Het
Slco4a1	T	C	2: 180,471,255	F427L	probably benign	Het
Snapc3	C	A	4: 83,417,836	Y28*	probably null	Het
St3gal6	C	T	16: 58,473,437	R243H	probably benign	Het
Syne2	G	C	12: 75,966,371	V2779L	probably benign	Het
Tacc1	T	A	8: 25,201,285	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,151,833	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,680	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,986,224	I18T	probably benign	Het
Wdr35	G	C	12: 9,024,886	A1000P	probably benign	Het
Wnk1	C	A	6: 119,929,828	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,994,613	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,437,833	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,331,856	K265R	probably benign	Het
Zfp575	T	C	7: 24,586,668	D21G	probably benign	Het

Other mutations in Stat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Stat2	APN	10	128281176	missense	probably benign	0.42
IGL02528:Stat2	APN	10	128290665	missense	probably benign	0.07
IGL02859:Stat2	APN	10	128276611	missense	probably damaging	1.00
IGL03119:Stat2	APN	10	128283517	missense	probably benign	0.15
numb	UTSW	10	128281065	splice site	probably null
Paresthetic	UTSW	10	128281242	critical splice donor site	probably null
1mM(1):Stat2	UTSW	10	128277723	missense	probably benign	0.06
R0098:Stat2	UTSW	10	128283262	missense	probably damaging	1.00
R0334:Stat2	UTSW	10	128277867	missense	probably damaging	1.00
R0496:Stat2	UTSW	10	128276509	missense	probably benign	0.04
R1478:Stat2	UTSW	10	128282100	critical splice acceptor site	probably null
R2857:Stat2	UTSW	10	128276901	splice site	probably null
R3698:Stat2	UTSW	10	128278793	missense	probably benign	0.30
R3870:Stat2	UTSW	10	128277893	missense	probably benign	0.17
R5231:Stat2	UTSW	10	128281242	critical splice donor site	probably null
R5235:Stat2	UTSW	10	128291032	critical splice donor site	probably null
R5264:Stat2	UTSW	10	128281065	splice site	probably null
R5855:Stat2	UTSW	10	128283494	missense	probably damaging	1.00
R6752:Stat2	UTSW	10	128283753	missense	probably damaging	1.00
R7459:Stat2	UTSW	10	128276565	missense	possibly damaging	0.95
R7467:Stat2	UTSW	10	128277903	splice site	probably null
R7756:Stat2	UTSW	10	128290728	small deletion	probably benign
R7814:Stat2	UTSW	10	128290728	small deletion	probably benign
R7992:Stat2	UTSW	10	128284962	missense	probably damaging	1.00
R8335:Stat2	UTSW	10	128276583	missense	possibly damaging	0.77
R8825:Stat2	UTSW	10	128291364	missense	possibly damaging	0.70
R9052:Stat2	UTSW	10	128281669	missense	probably damaging	1.00
R9104:Stat2	UTSW	10	128281242	critical splice donor site	probably null
R9244:Stat2	UTSW	10	128282765	missense	possibly damaging	0.93
R9405:Stat2	UTSW	10	128278765	missense	probably damaging	0.99
R9433:Stat2	UTSW	10	128276788	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCCCTAGCAGAGTAAAGGACTG -3'
(R):5'- CCGAGTGTGTTTGAACTCTGAC -3'

Sequencing Primer
(F):5'- CTAGCAGAGTAAAGGACTGAATTTAG -3'
(R):5'- ATTAACGGTGTGGGCTACATCCC -3'

Posted On

2019-10-24