Incidental Mutation 'IGL01097:Stat6'
ID |
52090 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stat6
|
Ensembl Gene |
ENSMUSG00000002147 |
Gene Name |
signal transducer and activator of transcription 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.741)
|
Stock # |
IGL01097
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127490801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 407
(S407P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092074]
[ENSMUST00000120279]
|
AlphaFold |
P52633 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092074
AA Change: S407P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089708 Gene: ENSMUSG00000002147 AA Change: S407P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156231
|
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 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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
C |
T |
1: 60,486,505 (GRCm39) |
A75V |
probably damaging |
Het |
Bud23 |
G |
A |
5: 135,089,935 (GRCm39) |
A86V |
probably damaging |
Het |
Dnajc5 |
T |
C |
2: 181,189,149 (GRCm39) |
Y42H |
probably benign |
Het |
Fchsd1 |
T |
C |
18: 38,100,810 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
C |
A |
2: 90,606,694 (GRCm39) |
A835D |
possibly damaging |
Het |
Gm57859 |
T |
C |
11: 113,583,296 (GRCm39) |
I541T |
probably benign |
Het |
Grin2d |
A |
T |
7: 45,502,716 (GRCm39) |
N718K |
probably damaging |
Het |
Gsdma3 |
A |
G |
11: 98,528,398 (GRCm39) |
K357E |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,081,010 (GRCm39) |
|
probably null |
Het |
Lrrtm2 |
A |
T |
18: 35,345,994 (GRCm39) |
I436N |
probably damaging |
Het |
Mterf2 |
T |
A |
10: 84,955,677 (GRCm39) |
I316L |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,220,942 (GRCm39) |
A1710T |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,963,003 (GRCm39) |
V338A |
possibly damaging |
Het |
Or2f2 |
T |
G |
6: 42,767,077 (GRCm39) |
Y35D |
probably damaging |
Het |
Or52a20 |
G |
T |
7: 103,366,328 (GRCm39) |
V176F |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,684,718 (GRCm39) |
Y807C |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,545 (GRCm39) |
L246P |
probably damaging |
Het |
Ttpal |
T |
C |
2: 163,449,240 (GRCm39) |
Y32H |
probably damaging |
Het |
Zfp523 |
A |
G |
17: 28,420,023 (GRCm39) |
K223E |
possibly damaging |
Het |
|
Other mutations in Stat6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1333:Stat6
|
UTSW |
10 |
127,487,094 (GRCm39) |
missense |
possibly damaging |
0.62 |
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 |
|
Posted On |
2013-06-21 |