Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Stat2'

409899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stat2

Ensembl Gene

ENSMUSG00000040033

Gene Name

signal transducer and activator of transcription 2

Synonyms

1600010G07Rik

Accession Numbers

Genbank: NM_019963.1; Ensembl: ENSMUST00000085708

Is this an essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

128270559-128292849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128283517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 457 (M457V)

Ref Sequence

ENSEMBL: ENSMUSP00000082855 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000085708
AA Change: M457V

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: M457V

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 benign
Transcript: ENSMUST00000105238
AA Change: M458V

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: M458V

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: ENSMUST00000220142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220277

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	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
numb	UTSW	10	128281065	splice 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
R7599:Stat2	UTSW	10	128277197	missense	possibly damaging	0.45
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

Posted On

2016-08-02