Incidental Mutation 'IGL00975:Tbx21'
ID |
28646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbx21
|
Ensembl Gene |
ENSMUSG00000001444 |
Gene Name |
T-box 21 |
Synonyms |
Tbet, Tblym, TBT1, T-bet |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.213)
|
Stock # |
IGL00975
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96988897-97006157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96990908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 257
(I257V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001484]
|
AlphaFold |
Q9JKD8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001484
AA Change: I257V
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000001484 Gene: ENSMUSG00000001444 AA Change: I257V
Domain | Start | End | E-Value | Type |
low complexity region
|
83 |
100 |
N/A |
INTRINSIC |
TBOX
|
135 |
330 |
4.82e-111 |
SMART |
low complexity region
|
498 |
515 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119956
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display defects in the production of NK and NK-T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
Slc30a9 |
T |
C |
5: 67,507,169 (GRCm39) |
V487A |
probably damaging |
Het |
Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
Other mutations in Tbx21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Tbx21
|
APN |
11 |
96,989,749 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00957:Tbx21
|
APN |
11 |
96,989,920 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02015:Tbx21
|
APN |
11 |
96,989,740 (GRCm39) |
missense |
probably benign |
|
IGL02930:Tbx21
|
APN |
11 |
96,990,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03378:Tbx21
|
APN |
11 |
97,005,567 (GRCm39) |
missense |
probably benign |
0.01 |
Chomolungma
|
UTSW |
11 |
96,990,782 (GRCm39) |
missense |
possibly damaging |
0.54 |
plateau
|
UTSW |
11 |
96,992,304 (GRCm39) |
critical splice donor site |
probably null |
|
Uncia
|
UTSW |
11 |
96,990,808 (GRCm39) |
missense |
possibly damaging |
0.84 |
Yeti
|
UTSW |
11 |
96,989,923 (GRCm39) |
missense |
probably benign |
0.10 |
R1923:Tbx21
|
UTSW |
11 |
96,990,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Tbx21
|
UTSW |
11 |
97,005,581 (GRCm39) |
missense |
probably benign |
0.11 |
R4662:Tbx21
|
UTSW |
11 |
96,992,393 (GRCm39) |
missense |
probably benign |
0.01 |
R4847:Tbx21
|
UTSW |
11 |
97,005,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R5049:Tbx21
|
UTSW |
11 |
97,005,536 (GRCm39) |
missense |
probably benign |
0.08 |
R5364:Tbx21
|
UTSW |
11 |
96,992,304 (GRCm39) |
critical splice donor site |
probably null |
|
R5873:Tbx21
|
UTSW |
11 |
97,005,474 (GRCm39) |
critical splice donor site |
probably null |
|
R6064:Tbx21
|
UTSW |
11 |
97,005,737 (GRCm39) |
missense |
probably damaging |
0.96 |
R6516:Tbx21
|
UTSW |
11 |
96,990,782 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6786:Tbx21
|
UTSW |
11 |
97,005,872 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7038:Tbx21
|
UTSW |
11 |
96,990,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R7050:Tbx21
|
UTSW |
11 |
97,005,596 (GRCm39) |
missense |
probably benign |
0.03 |
R7062:Tbx21
|
UTSW |
11 |
96,989,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R7181:Tbx21
|
UTSW |
11 |
96,989,923 (GRCm39) |
missense |
probably benign |
0.10 |
R8421:Tbx21
|
UTSW |
11 |
97,005,561 (GRCm39) |
missense |
probably benign |
0.01 |
R8475:Tbx21
|
UTSW |
11 |
96,990,808 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Posted On |
2013-04-17 |