Incidental Mutation 'IGL02939:Stat6'
ID |
365934 |
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 # |
IGL02939
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127482809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 10
(M10K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092074]
[ENSMUST00000120279]
|
AlphaFold |
P52633 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092074
AA Change: M10K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000089708 Gene: ENSMUSG00000002147 AA Change: M10K
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
AA Change: M10K
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112722 Gene: ENSMUSG00000002147 AA Change: M10K
Domain | Start | End | E-Value | Type |
Pfam:STAT_int
|
2 |
109 |
2.7e-20 |
PFAM |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6ap1 |
A |
G |
X: 73,340,924 (GRCm39) |
D47G |
probably benign |
Het |
Atr |
T |
C |
9: 95,747,314 (GRCm39) |
F199L |
probably benign |
Het |
Bivm |
C |
A |
1: 44,182,120 (GRCm39) |
H443N |
probably benign |
Het |
Btnl2 |
A |
T |
17: 34,580,043 (GRCm39) |
H192L |
probably benign |
Het |
Ccdc178 |
A |
T |
18: 22,253,775 (GRCm39) |
C155S |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,785,673 (GRCm39) |
V2934L |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,726,652 (GRCm39) |
S3294P |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,115,579 (GRCm39) |
E585V |
possibly damaging |
Het |
Elapor2 |
T |
C |
5: 9,511,478 (GRCm39) |
Y947H |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,138,606 (GRCm39) |
|
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,051,491 (GRCm39) |
T70K |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,534,964 (GRCm39) |
|
probably null |
Het |
Fam124a |
G |
A |
14: 62,793,368 (GRCm39) |
|
probably null |
Het |
Fam53a |
T |
C |
5: 33,765,103 (GRCm39) |
D201G |
probably damaging |
Het |
Fgf14 |
C |
T |
14: 124,369,891 (GRCm39) |
G136D |
possibly damaging |
Het |
Gdi2 |
A |
T |
13: 3,614,623 (GRCm39) |
T323S |
probably benign |
Het |
Gemin5 |
A |
T |
11: 58,047,556 (GRCm39) |
N339K |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,364,522 (GRCm39) |
E286G |
probably benign |
Het |
Golga4 |
A |
C |
9: 118,363,700 (GRCm39) |
K233T |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,641,732 (GRCm39) |
|
probably benign |
Het |
Haus8 |
A |
G |
8: 71,708,361 (GRCm39) |
|
probably benign |
Het |
Itgb3bp |
T |
C |
4: 99,690,373 (GRCm39) |
T49A |
probably null |
Het |
Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
Lpo |
A |
G |
11: 87,706,004 (GRCm39) |
M273T |
possibly damaging |
Het |
Map3k4 |
T |
A |
17: 12,491,036 (GRCm39) |
S132C |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,414,715 (GRCm39) |
T2566P |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,536,284 (GRCm39) |
E1255G |
probably null |
Het |
Nop56 |
A |
T |
2: 130,120,117 (GRCm39) |
K157N |
probably damaging |
Het |
Or10g9 |
C |
T |
9: 39,912,194 (GRCm39) |
E110K |
probably benign |
Het |
Or6c1 |
A |
T |
10: 129,517,857 (GRCm39) |
Y250* |
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,340,648 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,172,074 (GRCm39) |
H557R |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,181,787 (GRCm39) |
Q64* |
probably null |
Het |
Ppp2r3c |
G |
A |
12: 55,345,192 (GRCm39) |
|
probably benign |
Het |
Rgmb |
C |
T |
17: 16,027,755 (GRCm39) |
M321I |
probably benign |
Het |
Rnf31 |
T |
C |
14: 55,833,131 (GRCm39) |
S363P |
probably benign |
Het |
Sap18b |
T |
A |
8: 96,552,329 (GRCm39) |
M113K |
probably benign |
Het |
Scara3 |
T |
A |
14: 66,169,105 (GRCm39) |
M171L |
probably benign |
Het |
Slc9a2 |
T |
G |
1: 40,781,863 (GRCm39) |
M364R |
probably damaging |
Het |
Sorcs1 |
C |
T |
19: 50,666,368 (GRCm39) |
W180* |
probably null |
Het |
Sun1 |
T |
C |
5: 139,221,243 (GRCm39) |
|
probably benign |
Het |
Tead2 |
T |
C |
7: 44,869,858 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
T |
G |
7: 64,964,638 (GRCm39) |
E844D |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,206,411 (GRCm39) |
S295P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,612,756 (GRCm39) |
R17108C |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,711,664 (GRCm39) |
|
probably null |
Het |
Vmn2r108 |
T |
A |
17: 20,691,545 (GRCm39) |
H326L |
probably benign |
Het |
Xdh |
A |
G |
17: 74,250,840 (GRCm39) |
|
probably null |
Het |
Zfp385b |
A |
G |
2: 77,242,403 (GRCm39) |
S439P |
probably benign |
Het |
Zfp597 |
G |
A |
16: 3,683,805 (GRCm39) |
S317L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,946,214 (GRCm39) |
D1081G |
probably damaging |
Het |
Zfp93 |
C |
T |
7: 23,974,509 (GRCm39) |
H165Y |
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 |
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 |
2015-12-18 |