Incidental Mutation 'R6064:Tbx21'
| ID |
483979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx21
|
| Ensembl Gene |
ENSMUSG00000001444 |
| Gene Name |
T-box 21 |
| Synonyms |
Tbet, Tblym, TBT1, T-bet |
| MMRRC Submission |
044228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R6064 (G1)
|
| Quality Score |
86.0076 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96988897-97006157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97005737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 76
(Y76C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001484]
|
| AlphaFold |
Q9JKD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001484
AA Change: Y76C
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001484
Gene: ENSMUSG00000001444
AA Change: Y76C
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,117,667 (GRCm39) |
D1294N |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,150,029 (GRCm39) |
T92A |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,526,752 (GRCm39) |
D738G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,954,065 (GRCm39) |
F278L |
probably damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,226,157 (GRCm39) |
N2977I |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 18,895,084 (GRCm39) |
E219D |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,132 (GRCm39) |
D3556G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,243 (GRCm39) |
E306G |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,229,605 (GRCm39) |
F135L |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,668,349 (GRCm39) |
K514T |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,434,223 (GRCm39) |
C280S |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,603,428 (GRCm39) |
E240G |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,409,400 (GRCm39) |
H56L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,234,640 (GRCm39) |
R696G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,032,273 (GRCm39) |
I32V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or5d16 |
A |
G |
2: 87,773,828 (GRCm39) |
M48T |
probably benign |
Het |
| Or5h17 |
T |
G |
16: 58,820,186 (GRCm39) |
I46S |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,779 (GRCm39) |
T80A |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,418 (GRCm39) |
Y447N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Scgb1b10 |
T |
C |
7: 31,800,627 (GRCm39) |
L72S |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,836,921 (GRCm39) |
V141A |
probably benign |
Het |
| Tmem235 |
T |
C |
11: 117,753,764 (GRCm39) |
V107A |
possibly damaging |
Het |
| Vnn1 |
G |
T |
10: 23,770,807 (GRCm39) |
A12S |
probably benign |
Het |
| Zfp606 |
T |
G |
7: 12,214,960 (GRCm39) |
W63G |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,878 (GRCm39) |
F119L |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGACCACAACAGGTG -3'
(R):5'- TTCATTGGTCTTCGGACGCC -3'
Sequencing Primer
(F):5'- TGAGCGCGACTCTCAGCTTC -3'
(R):5'- TCTTCGACGGCTGCTGGAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation