Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Stat2'

165642

Institutional Source

Beutler Lab

Gene Symbol

Stat2

Ensembl Gene

ENSMUSG00000040033

Gene Name

signal transducer and activator of transcription 2

Synonyms

1600010G07Rik

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R1478 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128106428-128128718 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 128117969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100872 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000085708

SMART Domains

Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033

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

probably null
Transcript: ENSMUST00000105238

SMART Domains

Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220277

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,580,287 (GRCm39)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,263,453 (GRCm39)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,103,938 (GRCm39)	R170C	probably benign	Het
BC028528	T	C	3: 95,799,271 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,737,955 (GRCm39)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,745,012 (GRCm39)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 89,908,677 (GRCm39)	D19G	probably damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cct8l1	T	C	5: 25,722,767 (GRCm39)	V494A	probably benign	Het
Chd1	T	C	17: 15,959,769 (GRCm39)	F663L	probably damaging	Het
Chn2	A	T	6: 54,270,065 (GRCm39)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,460,295 (GRCm39)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,795,581 (GRCm39)	L457I	probably benign	Het
Dera	T	A	6: 137,807,193 (GRCm39)	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,171,404 (GRCm39)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,292,671 (GRCm39)	V114A	probably damaging	Het
Dscam	C	T	16: 96,592,110 (GRCm39)	V722M	probably benign	Het
Dsp	A	G	13: 38,365,114 (GRCm39)	N499S	probably damaging	Het
Ecd	A	T	14: 20,396,725 (GRCm39)	Y53*	probably null	Het
Esyt3	T	C	9: 99,200,119 (GRCm39)	T692A	probably benign	Het
Fat1	T	A	8: 45,478,659 (GRCm39)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,795,072 (GRCm39)		probably null	Het
Fscn3	A	G	6: 28,430,567 (GRCm39)	M246V	probably benign	Het
Gde1	G	T	7: 118,291,007 (GRCm39)	T106K	probably benign	Het
Gjc2	A	G	11: 59,068,434 (GRCm39)	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,341,260 (GRCm39)	M168K	probably damaging	Het
Hmx3	A	G	7: 131,145,826 (GRCm39)	E178G	probably damaging	Het
Htt	A	G	5: 34,961,171 (GRCm39)	Y266C	probably damaging	Het
Jkampl	A	T	6: 73,446,039 (GRCm39)	L170Q	probably damaging	Het
Kif27	G	T	13: 58,451,359 (GRCm39)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 88,807,534 (GRCm39)	Y21*	probably null	Het
Lrrc41	T	A	4: 115,952,405 (GRCm39)	L661*	probably null	Het
Lrrc63	T	C	14: 75,363,424 (GRCm39)	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892 (GRCm39)	L84P	probably damaging	Het
Myh8	T	C	11: 67,183,551 (GRCm39)	I754T	probably benign	Het
Neb	A	C	2: 52,065,619 (GRCm39)	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,175,374 (GRCm39)	H134R	probably benign	Het
Npepps	A	T	11: 97,117,673 (GRCm39)	M542K	probably benign	Het
Nup160	C	T	2: 90,509,743 (GRCm39)		probably benign	Het
Or3a1c	T	A	11: 74,045,963 (GRCm39)		probably null	Het
Or8g33	T	A	9: 39,337,888 (GRCm39)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,302,136 (GRCm39)		probably null	Het
Ppp6r1	A	T	7: 4,643,377 (GRCm39)		probably null	Het
Prss33	A	G	17: 24,054,072 (GRCm39)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,069,302 (GRCm39)	Y980*	probably null	Het
Qrich1	T	C	9: 108,436,531 (GRCm39)	V743A	probably benign	Het
Rev3l	G	A	10: 39,659,329 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm39)	N297K	probably benign	Het
Sap130	A	G	18: 31,813,527 (GRCm39)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,031,863 (GRCm39)	V241A	probably benign	Het
Snx14	A	T	9: 88,276,581 (GRCm39)	V577E	probably benign	Het
Srrm2	T	C	17: 24,034,876 (GRCm39)	S507P	probably benign	Het
Susd5	T	C	9: 113,925,752 (GRCm39)	F545S	probably benign	Het
Tafa2	T	A	10: 123,429,401 (GRCm39)	M5K	possibly damaging	Het
Tnnt2	A	G	1: 135,775,764 (GRCm39)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,094,953 (GRCm39)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,682,417 (GRCm39)		probably benign	Het
Vmn1r88	A	C	7: 12,911,878 (GRCm39)	D78A	probably damaging	Het
Xpc	C	T	6: 91,485,510 (GRCm39)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,241,623 (GRCm39)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,934,680 (GRCm39)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,679,190 (GRCm39)	H405L	probably damaging	Het

Other mutations in Stat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Stat2	APN	10	128,117,045 (GRCm39)	missense	probably benign	0.42
IGL02528:Stat2	APN	10	128,126,534 (GRCm39)	missense	probably benign	0.07
IGL02859:Stat2	APN	10	128,112,480 (GRCm39)	missense	probably damaging	1.00
IGL03119:Stat2	APN	10	128,119,386 (GRCm39)	missense	probably benign	0.15
numb	UTSW	10	128,116,934 (GRCm39)	splice site	probably null
Paresthetic	UTSW	10	128,117,111 (GRCm39)	critical splice donor site	probably null
1mM(1):Stat2	UTSW	10	128,113,592 (GRCm39)	missense	probably benign	0.06
R0098:Stat2	UTSW	10	128,119,131 (GRCm39)	missense	probably damaging	1.00
R0334:Stat2	UTSW	10	128,113,736 (GRCm39)	missense	probably damaging	1.00
R0496:Stat2	UTSW	10	128,112,378 (GRCm39)	missense	probably benign	0.04
R2857:Stat2	UTSW	10	128,112,770 (GRCm39)	splice site	probably null
R3698:Stat2	UTSW	10	128,114,662 (GRCm39)	missense	probably benign	0.30
R3870:Stat2	UTSW	10	128,113,762 (GRCm39)	missense	probably benign	0.17
R5231:Stat2	UTSW	10	128,117,111 (GRCm39)	critical splice donor site	probably null
R5235:Stat2	UTSW	10	128,126,901 (GRCm39)	critical splice donor site	probably null
R5264:Stat2	UTSW	10	128,116,934 (GRCm39)	splice site	probably null
R5855:Stat2	UTSW	10	128,119,363 (GRCm39)	missense	probably damaging	1.00
R6752:Stat2	UTSW	10	128,119,622 (GRCm39)	missense	probably damaging	1.00
R7459:Stat2	UTSW	10	128,112,434 (GRCm39)	missense	possibly damaging	0.95
R7467:Stat2	UTSW	10	128,113,772 (GRCm39)	splice site	probably null
R7599:Stat2	UTSW	10	128,113,066 (GRCm39)	missense	possibly damaging	0.45
R7756:Stat2	UTSW	10	128,126,597 (GRCm39)	small deletion	probably benign
R7814:Stat2	UTSW	10	128,126,597 (GRCm39)	small deletion	probably benign
R7992:Stat2	UTSW	10	128,120,831 (GRCm39)	missense	probably damaging	1.00
R8335:Stat2	UTSW	10	128,112,452 (GRCm39)	missense	possibly damaging	0.77
R8825:Stat2	UTSW	10	128,127,233 (GRCm39)	missense	possibly damaging	0.70
R9052:Stat2	UTSW	10	128,117,538 (GRCm39)	missense	probably damaging	1.00
R9104:Stat2	UTSW	10	128,117,111 (GRCm39)	critical splice donor site	probably null
R9244:Stat2	UTSW	10	128,118,634 (GRCm39)	missense	possibly damaging	0.93
R9405:Stat2	UTSW	10	128,114,634 (GRCm39)	missense	probably damaging	0.99
R9433:Stat2	UTSW	10	128,112,657 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTCAGAGATTCCGTGTCTTTTGCTTG -3'
(R):5'- AGACAAAGAGCAGTGTTAGTGTCTTCG -3'

Sequencing Primer
(F):5'- GTCTTTTGCTTGCGCCAG -3'
(R):5'- agttcgattcccagaactcc -3'

Posted On

2014-03-28