Incidental Mutation 'R0098:Stat2'
ID |
64108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stat2
|
Ensembl Gene |
ENSMUSG00000040033 |
Gene Name |
signal transducer and activator of transcription 2 |
Synonyms |
1600010G07Rik |
MMRRC Submission |
038384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R0098 (G1)
|
Quality Score |
143 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 128119131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 428
(H428Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085708]
[ENSMUST00000105238]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085708
AA Change: H427Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082855 Gene: ENSMUSG00000040033 AA Change: H427Q
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 damaging
Transcript: ENSMUST00000105238
AA Change: H428Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100872 Gene: ENSMUSG00000040033 AA Change: H428Q
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
100% (54/54) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,127,689 (GRCm39) |
I97T |
probably damaging |
Het |
Acp3 |
C |
T |
9: 104,197,144 (GRCm39) |
|
probably null |
Het |
Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
Fam237b |
T |
A |
5: 5,625,355 (GRCm39) |
L17Q |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,736,591 (GRCm39) |
E1564G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,573,920 (GRCm39) |
W62R |
probably damaging |
Het |
Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,888 (GRCm39) |
I254M |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
Stat5a |
A |
T |
11: 100,766,452 (GRCm39) |
Q378L |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,442,244 (GRCm39) |
V490F |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,044 (GRCm39) |
N155S |
probably damaging |
Het |
Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
Vmn2r66 |
A |
C |
7: 84,654,965 (GRCm39) |
M448R |
probably damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
probably null |
Het |
Zfp985 |
T |
C |
4: 147,661,566 (GRCm39) |
S4P |
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 |
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 |
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'- ATTCGCAGACTCTGGTGGAGCAAC -3'
(R):5'- GCTTTCGGAGCTTGGCAGAAGAAC -3'
Sequencing Primer
(F):5'- CAACAGGCTCTGATCACTGT -3'
(R):5'- CAGAAGAACTGCTGGTTCTGC -3'
|
Posted On |
2013-08-06 |