Incidental Mutation 'R3698:Stat2'
| ID |
269894 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128114662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 253
(L253Q)
|
| 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: L253Q
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000082855
Gene: ENSMUSG00000040033
AA Change: L253Q
| 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: L253Q
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000100872
Gene: ENSMUSG00000040033
AA Change: L253Q
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
C |
A |
19: 56,904,955 (GRCm39) |
S549I |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,821,054 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| G3bp2 |
T |
C |
5: 92,204,139 (GRCm39) |
E316G |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,757,890 (GRCm39) |
L767P |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
| Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
| Nat8f2 |
T |
A |
6: 85,844,778 (GRCm39) |
T195S |
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
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 |
|
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 |
|
|
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'- GGAGTGGTATGAGATACTTAGCC -3'
(R):5'- TTGGTTGAGACGACGATGGATAAAC -3'
Sequencing Primer
(F):5'- TATGAGATACTTAGCCCTCAGGAGC -3'
(R):5'- TAAACAGAGCACGGTCAGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation