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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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