Incidental Mutation 'R1333:Stat6'
ID |
156785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stat6
|
Ensembl Gene |
ENSMUSG00000002147 |
Gene Name |
signal transducer and activator of transcription 6 |
Synonyms |
|
MMRRC Submission |
039398-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.741)
|
Stock # |
R1333 (G1)
|
Quality Score |
148 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 127487094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 200
(R200S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092074]
[ENSMUST00000120279]
|
AlphaFold |
P52633 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092074
AA Change: R200S
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000089708 Gene: ENSMUSG00000002147 AA Change: R200S
Domain | Start | End | E-Value | Type |
STAT_int
|
2 |
116 |
2.76e-31 |
SMART |
Pfam:STAT_bind
|
273 |
526 |
4.4e-87 |
PFAM |
SH2
|
540 |
622 |
1.33e-5 |
SMART |
Pfam:STAT6_C
|
655 |
837 |
1.1e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120279
|
SMART Domains |
Protein: ENSMUSP00000112722 Gene: ENSMUSG00000002147
Domain | Start | End | E-Value | Type |
Pfam:STAT_int
|
2 |
109 |
2.7e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128072
|
Meta Mutation Damage Score |
0.1468 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
Validation Efficiency |
98% (41/42) |
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 family of transcription factors. 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. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired IL4 responses, including anti-IgM stimulated B cell proliferation, class switching to IgE, contact sensitivity, and Th2 cytokine production, and show increased resistance to certain infections. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
Het |
|
Other mutations in Stat6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01097:Stat6
|
APN |
10 |
127,490,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01785:Stat6
|
APN |
10 |
127,493,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02939:Stat6
|
APN |
10 |
127,482,809 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03266:Stat6
|
APN |
10 |
127,493,024 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03412:Stat6
|
APN |
10 |
127,494,074 (GRCm39) |
missense |
probably benign |
0.00 |
Rigid
|
UTSW |
10 |
127,494,571 (GRCm39) |
critical splice donor site |
probably null |
|
Stationary
|
UTSW |
10 |
127,488,091 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4142001:Stat6
|
UTSW |
10 |
127,494,099 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0165:Stat6
|
UTSW |
10 |
127,493,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R0581:Stat6
|
UTSW |
10 |
127,483,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Stat6
|
UTSW |
10 |
127,494,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1352:Stat6
|
UTSW |
10 |
127,486,680 (GRCm39) |
missense |
probably benign |
0.32 |
R1457:Stat6
|
UTSW |
10 |
127,494,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1538:Stat6
|
UTSW |
10 |
127,489,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Stat6
|
UTSW |
10 |
127,488,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Stat6
|
UTSW |
10 |
127,486,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:Stat6
|
UTSW |
10 |
127,488,091 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3980:Stat6
|
UTSW |
10 |
127,491,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4467:Stat6
|
UTSW |
10 |
127,487,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R5346:Stat6
|
UTSW |
10 |
127,488,182 (GRCm39) |
missense |
probably benign |
0.44 |
R5481:Stat6
|
UTSW |
10 |
127,483,695 (GRCm39) |
splice site |
probably null |
|
R5722:Stat6
|
UTSW |
10 |
127,494,242 (GRCm39) |
missense |
probably benign |
0.00 |
R6036:Stat6
|
UTSW |
10 |
127,491,313 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6036:Stat6
|
UTSW |
10 |
127,491,313 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6244:Stat6
|
UTSW |
10 |
127,493,581 (GRCm39) |
splice site |
probably null |
|
R6914:Stat6
|
UTSW |
10 |
127,487,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Stat6
|
UTSW |
10 |
127,494,571 (GRCm39) |
critical splice donor site |
probably null |
|
R6942:Stat6
|
UTSW |
10 |
127,487,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R8231:Stat6
|
UTSW |
10 |
127,482,842 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8995:Stat6
|
UTSW |
10 |
127,494,511 (GRCm39) |
missense |
probably benign |
0.00 |
R9162:Stat6
|
UTSW |
10 |
127,487,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R9192:Stat6
|
UTSW |
10 |
127,493,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R9252:Stat6
|
UTSW |
10 |
127,483,661 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGTAAACCCGAAGGATGGAGTTG -3'
(R):5'- CAGTGAAGGATCTGTGTGAGCACC -3'
Sequencing Primer
(F):5'- GACTGAGCTGTGTGAGGG -3'
(R):5'- AATCTGTATGCTCCCTGTCTG -3'
|
Posted On |
2014-02-11 |