Incidental Mutation 'IGL03119:Stat2'
ID |
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 |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
IGL03119
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128119386 bp (GRCm39)
|
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: 8,764,887 (GRCm39) |
T626A |
probably benign |
Het |
Adcy1 |
C |
T |
11: 7,059,051 (GRCm39) |
T319I |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,530,492 (GRCm39) |
S5861P |
probably damaging |
Het |
Adgrv1 |
A |
C |
13: 81,581,819 (GRCm39) |
C4742G |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,079,057 (GRCm39) |
D93E |
probably damaging |
Het |
Atp6v1h |
A |
G |
1: 5,165,892 (GRCm39) |
T121A |
probably benign |
Het |
Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
Cep104 |
A |
C |
4: 154,066,181 (GRCm39) |
K126N |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,167,545 (GRCm39) |
E708G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,200,143 (GRCm39) |
Y107C |
probably damaging |
Het |
E2f3 |
A |
G |
13: 30,169,348 (GRCm39) |
S102P |
probably benign |
Het |
Eif3e |
A |
C |
15: 43,129,000 (GRCm39) |
S207A |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
Fyttd1 |
T |
C |
16: 32,721,065 (GRCm39) |
V121A |
probably benign |
Het |
Gstk1 |
T |
C |
6: 42,226,833 (GRCm39) |
S200P |
probably damaging |
Het |
Ifrd1 |
A |
T |
12: 40,262,333 (GRCm39) |
F244L |
probably null |
Het |
Ints7 |
T |
C |
1: 191,342,477 (GRCm39) |
V491A |
probably damaging |
Het |
Kcnd2 |
G |
T |
6: 21,216,508 (GRCm39) |
E71* |
probably null |
Het |
Ltbp3 |
A |
T |
19: 5,807,471 (GRCm39) |
Q1123L |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,573,041 (GRCm39) |
V720E |
probably null |
Het |
Or52ab4 |
A |
G |
7: 102,987,929 (GRCm39) |
I223V |
probably damaging |
Het |
Or5b121 |
T |
C |
19: 13,507,799 (GRCm39) |
I298T |
probably benign |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Peli1 |
T |
C |
11: 21,090,560 (GRCm39) |
|
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,458 (GRCm39) |
V209A |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,287,825 (GRCm39) |
Y31C |
probably damaging |
Het |
Smg1 |
G |
A |
7: 117,794,336 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
G |
T |
19: 18,815,381 (GRCm39) |
E1156* |
probably null |
Het |
Usp53 |
T |
A |
3: 122,755,064 (GRCm39) |
R130S |
possibly damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,333,852 (GRCm39) |
S193P |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,884,792 (GRCm39) |
I626V |
probably damaging |
Het |
Zfp574 |
G |
A |
7: 24,779,898 (GRCm39) |
A307T |
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 |
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 |
2016-08-02 |