Incidental Mutation 'R5235:Stat2'
ID |
398317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stat2
|
Ensembl Gene |
ENSMUSG00000040033 |
Gene Name |
signal transducer and activator of transcription 2 |
Synonyms |
1600010G07Rik |
MMRRC Submission |
042807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R5235 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 128126901 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085708]
[ENSMUST00000105238]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000085708
|
SMART Domains |
Protein: ENSMUSP00000082855 Gene: ENSMUSG00000040033
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 null
Transcript: ENSMUST00000105238
|
SMART Domains |
Protein: ENSMUSP00000100872 Gene: ENSMUSG00000040033
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: ENSMUST00000218862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220277
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
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 |
|
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'- ACAAGTCCTGCTGGAGCTAG -3'
(R):5'- GTATGGAAGTCTCATCTCCACTG -3'
Sequencing Primer
(F):5'- TGGAGCTAGCCCCACAAGTC -3'
(R):5'- GGTTGCTTAATTCTAGAGGACACAG -3'
|
Posted On |
2016-07-06 |