Incidental Mutation 'IGL02859:Stat2'
| ID |
362103 |
| 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: 0.209)
|
| Stock # |
IGL02859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128112480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 40
(E40V)
|
| 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: E40V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: E40V
| 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: E40V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: E40V
| 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: ENSMUST00000217852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218863
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,818 (GRCm39) |
Y637F |
possibly damaging |
Het |
| Abcc4 |
A |
G |
14: 118,753,912 (GRCm39) |
I1025T |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,217,375 (GRCm39) |
R140L |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,790,003 (GRCm39) |
L415I |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,004 (GRCm39) |
L415H |
probably damaging |
Het |
| Bivm |
C |
A |
1: 44,176,159 (GRCm39) |
S305* |
probably null |
Het |
| Clca4b |
C |
T |
3: 144,617,800 (GRCm39) |
D768N |
probably benign |
Het |
| Cobl |
T |
A |
11: 12,319,602 (GRCm39) |
N31Y |
probably damaging |
Het |
| Col4a5 |
G |
A |
X: 140,392,846 (GRCm39) |
C484Y |
unknown |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,253 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,383,771 (GRCm39) |
T2998A |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,772,445 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,456,087 (GRCm39) |
D558G |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,839,240 (GRCm39) |
W511R |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,705,953 (GRCm39) |
S159N |
unknown |
Het |
| Htr6 |
A |
G |
4: 138,801,745 (GRCm39) |
C110R |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,197,934 (GRCm39) |
S391C |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,005,693 (GRCm39) |
F286L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,730 (GRCm39) |
H534L |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,544 (GRCm39) |
Y1059C |
unknown |
Het |
| Mul1 |
A |
G |
4: 138,165,660 (GRCm39) |
T106A |
probably damaging |
Het |
| Nf2 |
T |
A |
11: 4,741,209 (GRCm39) |
E249V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,912 (GRCm39) |
S965G |
possibly damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Optc |
T |
C |
1: 133,829,799 (GRCm39) |
T204A |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,345 (GRCm39) |
V280A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,992 (GRCm39) |
N20S |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,912 (GRCm39) |
R787Q |
probably damaging |
Het |
| Pim1 |
G |
A |
17: 29,710,909 (GRCm39) |
E171K |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,088,162 (GRCm39) |
V191A |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,671 (GRCm39) |
R796Q |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,435,633 (GRCm39) |
D22G |
possibly damaging |
Het |
| Sit1 |
C |
T |
4: 43,482,831 (GRCm39) |
M109I |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,412,446 (GRCm39) |
V329A |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,748,156 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Vegfa |
C |
T |
17: 46,335,421 (GRCm39) |
S291N |
probably benign |
Het |
| Vmn1r61 |
G |
T |
7: 5,614,288 (GRCm39) |
L9I |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,708,129 (GRCm39) |
K163E |
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 |
|
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 |
2015-12-18 |
Incidental Mutation