Incidental Mutation 'IGL03412:Stat6'
| ID |
421848 |
| 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 # |
IGL03412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127494074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 634
(M634L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026469]
[ENSMUST00000092074]
[ENSMUST00000099157]
|
| AlphaFold |
P52633 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026469
|
| SMART Domains |
Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCD1
|
36 |
114 |
1.2e-44 |
PFAM |
|
Pfam:NCD2
|
230 |
364 |
3.2e-59 |
PFAM |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092074
AA Change: M634L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: M634L
| 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: ENSMUST00000099157
|
| SMART Domains |
Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NCD1
|
34 |
115 |
4.4e-51 |
PFAM |
|
Pfam:NCD2
|
199 |
366 |
3.6e-74 |
PFAM |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
| Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
| Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
| Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
| Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,731,840 (GRCm39) |
R54G |
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,248,763 (GRCm39) |
D1143N |
probably damaging |
Het |
| Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
| Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
| Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
| Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,398,927 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
| Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
| Plcz1 |
A |
C |
6: 139,961,823 (GRCm39) |
Y243D |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
| Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,480 (GRCm39) |
I693V |
probably benign |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
| Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation