Incidental Mutation 'IGL03378:Tbx21'
ID |
420585 |
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: 0.207)
|
Stock # |
IGL03378
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96988897-97006157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97005567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 133
(S133P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001484]
|
AlphaFold |
Q9JKD8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001484
AA Change: S133P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000001484 Gene: ENSMUSG00000001444 AA Change: S133P
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: ENSMUST00000119164
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430069I07Rik |
T |
A |
15: 34,355,778 (GRCm39) |
I261N |
probably benign |
Het |
Bace1 |
T |
A |
9: 45,770,199 (GRCm39) |
|
probably null |
Het |
Caprin2 |
G |
T |
6: 148,779,352 (GRCm39) |
Q152K |
probably benign |
Het |
Cdh16 |
C |
T |
8: 105,345,917 (GRCm39) |
D285N |
probably benign |
Het |
Cnnm2 |
G |
A |
19: 46,866,473 (GRCm39) |
A874T |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,285,722 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
C |
7: 105,362,940 (GRCm39) |
E3834A |
possibly damaging |
Het |
Erc2 |
A |
C |
14: 27,733,680 (GRCm39) |
S585R |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,819,005 (GRCm39) |
E269G |
probably damaging |
Het |
Gpr161 |
T |
C |
1: 165,138,077 (GRCm39) |
L204P |
probably damaging |
Het |
Hp |
A |
G |
8: 110,302,339 (GRCm39) |
V203A |
probably damaging |
Het |
Krtap6-5 |
A |
T |
16: 88,844,677 (GRCm39) |
C19S |
unknown |
Het |
Lce1i |
A |
T |
3: 92,685,033 (GRCm39) |
S48T |
unknown |
Het |
Lrp2 |
A |
T |
2: 69,261,496 (GRCm39) |
S4482T |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,337,285 (GRCm39) |
|
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,886,915 (GRCm39) |
F31S |
probably damaging |
Het |
Or4c100 |
T |
A |
2: 88,356,498 (GRCm39) |
Y190* |
probably null |
Het |
Or8k18 |
T |
A |
2: 86,085,363 (GRCm39) |
I225L |
possibly damaging |
Het |
Papola |
G |
T |
12: 105,775,692 (GRCm39) |
|
probably null |
Het |
Prss23 |
T |
C |
7: 89,159,352 (GRCm39) |
D239G |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,382,220 (GRCm39) |
T83A |
unknown |
Het |
Sh3pxd2b |
T |
G |
11: 32,331,443 (GRCm39) |
L56V |
probably damaging |
Het |
Ski |
A |
G |
4: 155,245,329 (GRCm39) |
S300P |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,053,989 (GRCm39) |
S17P |
probably damaging |
Het |
Svs5 |
C |
A |
2: 164,175,260 (GRCm39) |
H37Q |
probably benign |
Het |
Tgfbr3 |
G |
T |
5: 107,257,568 (GRCm39) |
S830R |
probably damaging |
Het |
Thsd1 |
A |
T |
8: 22,733,794 (GRCm39) |
K280N |
probably benign |
Het |
Tnfrsf13c |
T |
A |
15: 82,108,513 (GRCm39) |
M1L |
probably benign |
Het |
Ttll7 |
T |
C |
3: 146,615,408 (GRCm39) |
F291L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,599,907 (GRCm39) |
V10762A |
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 |
IGL00975:Tbx21
|
APN |
11 |
96,990,908 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02015:Tbx21
|
APN |
11 |
96,989,740 (GRCm39) |
missense |
probably benign |
|
IGL02930:Tbx21
|
APN |
11 |
96,990,865 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |