Incidental Mutation 'IGL02015:Tbx21'
| ID |
183700 |
| 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 # |
IGL02015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96988897-97006157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96989740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 484
(D484G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001484]
|
| AlphaFold |
Q9JKD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001484
AA Change: D484G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: D484G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,047,201 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
| Fzd5 |
A |
T |
1: 64,775,501 (GRCm39) |
C87S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
| Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
| Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
| Or10ab5 |
T |
A |
7: 108,245,220 (GRCm39) |
N188Y |
probably damaging |
Het |
| Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
| Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,506,622 (GRCm39) |
G233C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
| Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,325 (GRCm39) |
R63* |
probably null |
Het |
| Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
| Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation