Incidental Mutation 'IGL01833:Stat2'
| ID |
154838 |
| 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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL01833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128117045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 293
(F293V)
|
| 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: F293V
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: F293V
| 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: F293V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: F293V
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
| Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
| Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
| Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
| Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
| Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
| Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
| Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
| Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
| Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
| Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
| Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
| Serpinb9d |
T |
C |
13: 33,384,688 (GRCm39) |
Y222H |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
| Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
| Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
| Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
| Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
| Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
probably damaging |
Het |
|
| Other mutations in Stat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation