Incidental Mutation 'R8231:Stat6'
| ID |
637151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stat6
|
| Ensembl Gene |
ENSMUSG00000002147 |
| Gene Name |
signal transducer and activator of transcription 6 |
| Synonyms |
|
| MMRRC Submission |
067663-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.741)
|
| Stock # |
R8231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127482842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 21
(D21G)
|
| 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: D21G
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: D21G
| 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 |
possibly damaging
Transcript: ENSMUST00000120279
AA Change: D21G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112722
Gene: ENSMUSG00000002147
AA Change: D21G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STAT_int
|
2 |
109 |
2.7e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
| Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
| Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
| Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
| Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
| Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
| Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
| Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
| Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
| Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
| Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
| Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
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 |
|
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 |
|
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'- ACTGAAGGAGGTTCTCAGCAAG -3'
(R):5'- TCCTGGTTTAGCCTTCTAAGAGG -3'
Sequencing Primer
(F):5'- TCAGCAAGGCCATCTGTATG -3'
(R):5'- GCCTTCTAAGAGGTACAATGTCTAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation