Incidental Mutation 'IGL02930:Tbx21'
| ID |
364050 |
| 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 # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96988897-97006157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96990865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 271
(I271T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001484]
|
| AlphaFold |
Q9JKD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001484
AA Change: I271T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: I271T
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
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 |
|
IGL00975:Tbx21
|
APN |
11 |
96,990,908 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02015:Tbx21
|
APN |
11 |
96,989,740 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation