Incidental Mutation 'R2857:Stat2'
| ID |
252504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat2
|
| Ensembl Gene |
ENSMUSG00000040033 |
| Gene Name |
signal transducer and activator of transcription 2 |
| Synonyms |
1600010G07Rik |
| MMRRC Submission |
040447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R2857 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128106428-128128718 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 128112770 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: ENSMUST00000217852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220142
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330087D11Rik |
A |
T |
7: 29,273,303 (GRCm39) |
|
noncoding transcript |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,831,194 (GRCm39) |
M253I |
probably benign |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,531 (GRCm39) |
L18P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,881,144 (GRCm39) |
R348Q |
probably damaging |
Het |
| Cfap91 |
A |
C |
16: 38,123,075 (GRCm39) |
L651R |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
| Erich5 |
C |
T |
15: 34,471,560 (GRCm39) |
T263I |
probably damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Gad2 |
A |
C |
2: 22,563,987 (GRCm39) |
M397L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Kcnh8 |
A |
G |
17: 53,284,961 (GRCm39) |
D977G |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,472,474 (GRCm39) |
M570V |
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Phrf1 |
T |
A |
7: 140,839,593 (GRCm39) |
|
probably benign |
Het |
| Prc1 |
A |
G |
7: 79,961,969 (GRCm39) |
N52S |
probably damaging |
Het |
| Psd |
G |
C |
19: 46,312,859 (GRCm39) |
S170R |
probably benign |
Het |
| Riok1 |
T |
C |
13: 38,233,053 (GRCm39) |
F229L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,690,264 (GRCm39) |
V163A |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,226,599 (GRCm39) |
T510I |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,196,001 (GRCm39) |
T1342S |
probably benign |
Het |
| Trav3-1 |
C |
A |
14: 52,818,515 (GRCm39) |
A63E |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,023,796 (GRCm39) |
I2451N |
probably benign |
Het |
| Zfp326 |
G |
A |
5: 106,036,395 (GRCm39) |
R102H |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGTTTGAGATCTCAGAGC -3'
(R):5'- TACCTTAGTGACCTGCCAATC -3'
Sequencing Primer
(F):5'- GGTAGTTCACAGAGCTCTTGTCAC -3'
(R):5'- TTAGTGACCTGCCAATCCAGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation