Incidental Mutation 'R9252:Stat6'
ID |
701615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stat6
|
Ensembl Gene |
ENSMUSG00000002147 |
Gene Name |
signal transducer and activator of transcription 6 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.741)
|
Stock # |
R9252 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 127483661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 75
(N75T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092074]
[ENSMUST00000120279]
|
AlphaFold |
P52633 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092074
AA Change: N75T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000089708 Gene: ENSMUSG00000002147 AA Change: N75T
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: N75T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112722 Gene: ENSMUSG00000002147 AA Change: N75T
Domain | Start | End | E-Value | Type |
Pfam:STAT_int
|
2 |
109 |
2.7e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,920,641 (GRCm39) |
|
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,865,496 (GRCm39) |
N116D |
probably benign |
Het |
Arfgef1 |
T |
A |
1: 10,243,122 (GRCm39) |
R1073* |
probably null |
Het |
Atp6v1d |
T |
A |
12: 78,904,023 (GRCm39) |
Q46L |
probably benign |
Het |
Brme1 |
A |
G |
8: 84,898,878 (GRCm39) |
S589G |
possibly damaging |
Het |
Car15 |
A |
T |
16: 17,653,246 (GRCm39) |
L307* |
probably null |
Het |
Catspere2 |
A |
T |
1: 177,938,996 (GRCm39) |
H623L |
possibly damaging |
Het |
Ccdc146 |
T |
C |
5: 21,502,023 (GRCm39) |
D797G |
probably damaging |
Het |
Ccdc27 |
A |
T |
4: 154,125,507 (GRCm39) |
D112E |
unknown |
Het |
Ccp110 |
A |
G |
7: 118,321,673 (GRCm39) |
I443V |
probably benign |
Het |
Cd74 |
T |
A |
18: 60,941,364 (GRCm39) |
M103K |
possibly damaging |
Het |
Cdca2 |
T |
A |
14: 67,914,831 (GRCm39) |
R809S |
possibly damaging |
Het |
Cfap46 |
A |
T |
7: 139,198,165 (GRCm39) |
V2061E |
unknown |
Het |
Cimap1b |
T |
C |
15: 89,262,601 (GRCm39) |
S119G |
probably benign |
Het |
Ddx11 |
G |
A |
17: 66,457,807 (GRCm39) |
E873K |
probably benign |
Het |
Gucy2d |
G |
A |
7: 98,116,979 (GRCm39) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,309,834 (GRCm39) |
S1061R |
probably damaging |
Het |
Ildr1 |
G |
A |
16: 36,536,574 (GRCm39) |
R201H |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,715,194 (GRCm39) |
I111F |
possibly damaging |
Het |
Kcnj2 |
A |
G |
11: 110,963,355 (GRCm39) |
D249G |
probably damaging |
Het |
Kif1a |
T |
A |
1: 93,002,776 (GRCm39) |
T208S |
probably damaging |
Het |
Mgam |
T |
G |
6: 40,706,577 (GRCm39) |
M76R |
probably damaging |
Het |
Mib1 |
T |
G |
18: 10,800,088 (GRCm39) |
I809S |
probably benign |
Het |
Myh8 |
G |
T |
11: 67,177,302 (GRCm39) |
R456L |
probably damaging |
Het |
Mzf1 |
T |
C |
7: 12,777,647 (GRCm39) |
T665A |
probably benign |
Het |
Nfya |
T |
C |
17: 48,699,943 (GRCm39) |
H27R |
|
Het |
Nhsl3 |
A |
G |
4: 129,117,269 (GRCm39) |
V510A |
probably benign |
Het |
Nktr |
T |
C |
9: 121,579,415 (GRCm39) |
M1161T |
unknown |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Or13c7b |
C |
T |
4: 43,821,109 (GRCm39) |
G84D |
probably benign |
Het |
Pde8b |
C |
T |
13: 95,169,424 (GRCm39) |
D567N |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,740,087 (GRCm39) |
I491T |
possibly damaging |
Het |
Plcd3 |
G |
T |
11: 102,968,380 (GRCm39) |
Y392* |
probably null |
Het |
Plcd4 |
A |
G |
1: 74,588,359 (GRCm39) |
I69M |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,356,443 (GRCm39) |
Y799C |
probably damaging |
Het |
Pnlip |
T |
A |
19: 58,669,273 (GRCm39) |
I424N |
possibly damaging |
Het |
Prlr |
A |
G |
15: 10,326,550 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,247 (GRCm39) |
V568A |
probably benign |
Het |
Rtkn |
A |
G |
6: 83,125,143 (GRCm39) |
E201G |
probably damaging |
Het |
Scg2 |
C |
T |
1: 79,414,069 (GRCm39) |
R218H |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,622,535 (GRCm39) |
H223R |
possibly damaging |
Het |
Slc23a2 |
A |
T |
2: 131,913,842 (GRCm39) |
F312I |
probably damaging |
Het |
Slc24a1 |
T |
A |
9: 64,835,394 (GRCm39) |
E911V |
probably damaging |
Het |
St8sia4 |
CCTCT |
CCT |
1: 95,555,232 (GRCm39) |
|
probably null |
Het |
Stat1 |
C |
A |
1: 52,174,831 (GRCm39) |
Q178K |
probably benign |
Het |
Stk10 |
G |
T |
11: 32,538,915 (GRCm39) |
K251N |
|
Het |
Sult1e1 |
G |
T |
5: 87,737,973 (GRCm39) |
A36E |
probably damaging |
Het |
Tbc1d12 |
A |
G |
19: 38,899,477 (GRCm39) |
S466G |
probably benign |
Het |
Thsd4 |
C |
A |
9: 59,964,230 (GRCm39) |
A421S |
probably benign |
Het |
Tsga10 |
T |
A |
1: 37,873,364 (GRCm39) |
I172L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,600,856 (GRCm39) |
M18842K |
probably benign |
Het |
Ttpal |
T |
G |
2: 163,449,105 (GRCm39) |
|
probably benign |
Het |
Twf2 |
A |
G |
9: 106,088,999 (GRCm39) |
D62G |
probably benign |
Het |
Ube3d |
C |
A |
9: 86,254,501 (GRCm39) |
V327F |
probably damaging |
Het |
Ugt1a8 |
T |
C |
1: 88,015,706 (GRCm39) |
S40P |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,424,553 (GRCm39) |
I2021N |
possibly damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,167,849 (GRCm39) |
Y701F |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTGAAGTTGACCGGAGC -3'
(R):5'- TGTGCAAACTGTTAGAGAGCATAAG -3'
Sequencing Primer
(F):5'- TTGAAGGCTCACAACCATCTG -3'
(R):5'- ACTGTTAGAGAGCATAAGCATAGATC -3'
|
Posted On |
2022-03-25 |