Mutagenetix > Incidental Mutation

Incidental Mutation 'R8825:Stat2'

673398

Institutional Source

Beutler Lab

Gene Symbol

Stat2

Ensembl Gene

ENSMUSG00000040033

Gene Name

signal transducer and activator of transcription 2

Synonyms

1600010G07Rik

MMRRC Submission

068728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R8825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128106428-128128718 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128127233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 921 (D921E)

Ref Sequence

ENSEMBL: ENSMUSP00000100872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026449] [ENSMUST00000085708] [ENSMUST00000105238]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026449

SMART Domains

Protein: ENSMUSP00000026449
Gene: ENSMUSG00000025383

Domain	Start	End	E-Value	Type
Pfam:IL23	28	185	2.4e-98	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085708
AA Change: D920E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: D920E

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: D921E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: D921E

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	T	A	2: 91,103,906 (GRCm39)	L334Q	probably damaging	Het
Arhgef18	T	A	8: 3,436,951 (GRCm39)	L247Q	probably damaging	Het
Birc6	T	A	17: 74,920,500 (GRCm39)	C2100S	probably damaging	Het
Bpi	A	G	2: 158,109,670 (GRCm39)	D206G	probably benign	Het
C6	T	C	15: 4,761,170 (GRCm39)	I10T	possibly damaging	Het
Cactin	A	G	10: 81,161,492 (GRCm39)	T675A	probably damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cdkal1	C	T	13: 29,538,777 (GRCm39)	V461I	probably benign	Het
Ces2g	C	T	8: 105,693,954 (GRCm39)	S430F	probably benign	Het
Clcn3	A	T	8: 61,382,522 (GRCm39)	H382Q	probably damaging	Het
Crem	A	T	18: 3,268,061 (GRCm39)	V89E	probably damaging	Het
Crtc2	T	A	3: 90,166,463 (GRCm39)	M146K	probably benign	Het
Depdc1b	T	G	13: 108,521,316 (GRCm39)	D374E	possibly damaging	Het
Dgkg	T	A	16: 22,381,519 (GRCm39)	H477L	probably benign	Het
Dnhd1	T	A	7: 105,343,174 (GRCm39)	V1506D	possibly damaging	Het
Erfl	A	G	7: 24,628,682 (GRCm39)	V60A	possibly damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fem1al	T	C	11: 29,773,696 (GRCm39)	E587G	probably benign	Het
Flnb	G	T	14: 7,887,566 (GRCm38)	G459C	probably damaging	Het
Golgb1	A	G	16: 36,739,809 (GRCm39)	D2757G	probably benign	Het
Gsta4	T	G	9: 78,116,121 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,700,626 (GRCm39)	M1K	probably null	Het
Hip1	C	T	5: 135,450,976 (GRCm39)	V879M	probably damaging	Het
Htt	T	C	5: 34,983,304 (GRCm39)	Y968H	probably benign	Het
Ints11	T	A	4: 155,969,587 (GRCm39)	Y154*	probably null	Het
Itih5	A	G	2: 10,195,231 (GRCm39)	S208G	probably benign	Het
Lamb2	C	T	9: 108,362,460 (GRCm39)	T701I	probably benign	Het
Lgals3	T	A	14: 47,617,557 (GRCm39)	Y22*	probably null	Het
Macc1	T	A	12: 119,409,587 (GRCm39)	D118E	probably benign	Het
Mad2l2	T	C	4: 148,225,277 (GRCm39)	L9P	probably damaging	Het
Mark2	T	C	19: 7,318,571 (GRCm39)	T6A	probably benign	Het
Mcat	T	C	15: 83,436,812 (GRCm39)	N143S	probably benign	Het
Med10	T	G	13: 69,962,046 (GRCm39)	C144G	unknown	Het
Miga1	A	T	3: 151,982,460 (GRCm39)	F539I	probably damaging	Het
Mon2	A	T	10: 122,849,776 (GRCm39)	S1174T	probably benign	Het
Mycbp2	C	A	14: 103,466,871 (GRCm39)	W1330C	probably damaging	Het
Myo5b	T	C	18: 74,892,169 (GRCm39)	S1612P	possibly damaging	Het
Nipal4	T	C	11: 46,052,873 (GRCm39)	I31V	probably benign	Het
Obox3	A	T	7: 15,361,226 (GRCm39)	V13E	possibly damaging	Het
Or2ag19	A	T	7: 106,444,636 (GRCm39)	I273F	probably damaging	Het
Or8g4	T	C	9: 39,661,994 (GRCm39)	F104S	probably damaging	Het
Ppic	A	G	18: 53,542,222 (GRCm39)	V162A	probably damaging	Het
Prkg2	T	C	5: 99,090,043 (GRCm39)	K699R	probably benign	Het
Prl2c2	T	A	13: 13,179,656 (GRCm39)	L6F	possibly damaging	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sec16a	A	G	2: 26,313,586 (GRCm39)	S474P		Het
Sema5a	T	G	15: 32,689,498 (GRCm39)	H1054Q	probably benign	Het
Slc6a18	C	A	13: 73,813,751 (GRCm39)	V521F	probably null	Het
Tcf24	G	T	1: 10,031,224 (GRCm39)	N42K	unknown	Het
Tgfb2	T	A	1: 186,361,136 (GRCm39)	N372Y	probably damaging	Het
Tktl2	A	C	8: 66,966,319 (GRCm39)	M626L	possibly damaging	Het
Tmem94	A	G	11: 115,688,201 (GRCm39)	D1220G	probably benign	Het
Trcg1	A	G	9: 57,148,754 (GRCm39)	T109A	probably benign	Het
Trim30a	T	A	7: 104,060,529 (GRCm39)	K416*	probably null	Het
Trpm5	T	C	7: 142,636,753 (GRCm39)	K395E	possibly damaging	Het
Ufm1	T	A	3: 53,771,093 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,237,683 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,487,019 (GRCm39)	V80A	probably benign	Het
Vmn2r77	A	T	7: 86,452,855 (GRCm39)	Y524F	probably benign	Het
Zfp1007	T	G	5: 109,826,746 (GRCm39)	T5P	probably damaging	Het
Zfp64	T	C	2: 168,793,552 (GRCm39)	S65G	probably benign	Het
Zng1	A	G	19: 24,926,601 (GRCm39)	V150A	probably benign	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
R1478:Stat2	UTSW	10	128,117,969 (GRCm39)	critical splice acceptor site	probably null
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
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'- GAGCTTCTAACTTGTATCAGGGCC -3'
(R):5'- AGCATGGTAGGTAGCCTCAG -3'

Sequencing Primer
(F):5'- CAGGGCCTGATGTTTCTCTCTG -3'
(R):5'- CCTAGAAAGATTATGGCCAGTGTCTG -3'

Posted On

2021-07-15