Incidental Mutation 'R0581:Stat6'
ID |
56432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stat6
|
Ensembl Gene |
ENSMUSG00000002147 |
Gene Name |
signal transducer and activator of transcription 6 |
Synonyms |
|
MMRRC Submission |
038771-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.737)
|
Stock # |
R0581 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127478855-127496826 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 127483985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 89
(Q89L)
|
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: Q89L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089708 Gene: ENSMUSG00000002147 AA Change: Q89L
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
|
Meta Mutation Damage Score |
0.5480 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
Validation Efficiency |
95% (42/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAAGCACTTGCTATTCCTGTGGTT -3'
(R):5'- ACCTGTTCCTTCACTGAGGTGGAAA -3'
Sequencing Primer
(F):5'- ACTTGCTATTCCTGTGGTTAGGTG -3'
(R):5'- cttgccctctctgcctg -3'
|
Posted On |
2013-07-11 |