Incidental Mutation 'IGL02930:Tbx21'
ID364050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx21
Ensembl Gene ENSMUSG00000001444
Gene NameT-box 21
SynonymsTbet, Tblym, T-bet, TBT1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.307) question?
Stock #IGL02930
Quality Score
Status
Chromosome11
Chromosomal Location97098071-97115331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97100039 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 271 (I271T)
Ref Sequence ENSEMBL: ENSMUSP00000001484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001484]
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

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Tbx21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Tbx21 APN 11 97098923 missense probably damaging 0.97
IGL00957:Tbx21 APN 11 97099094 missense probably benign 0.00
IGL00975:Tbx21 APN 11 97100082 missense possibly damaging 0.54
IGL02015:Tbx21 APN 11 97098914 missense probably benign
IGL03378:Tbx21 APN 11 97114741 missense probably benign 0.01
plateau UTSW 11 97101478 critical splice donor site probably null
R1923:Tbx21 UTSW 11 97100037 missense probably damaging 1.00
R4569:Tbx21 UTSW 11 97114755 missense probably benign 0.11
R4662:Tbx21 UTSW 11 97101567 missense probably benign 0.01
R4847:Tbx21 UTSW 11 97115031 missense probably damaging 0.99
R5049:Tbx21 UTSW 11 97114710 missense probably benign 0.08
R5364:Tbx21 UTSW 11 97101478 critical splice donor site probably null
R5873:Tbx21 UTSW 11 97114648 critical splice donor site probably null
R6064:Tbx21 UTSW 11 97114911 missense probably damaging 0.96
R6516:Tbx21 UTSW 11 97099956 missense possibly damaging 0.54
R6786:Tbx21 UTSW 11 97115046 missense possibly damaging 0.88
R7038:Tbx21 UTSW 11 97099771 missense probably damaging 1.00
R7050:Tbx21 UTSW 11 97114770 missense probably benign 0.03
R7062:Tbx21 UTSW 11 97098893 missense probably damaging 1.00
R7181:Tbx21 UTSW 11 97099097 missense probably benign 0.10
Posted On2015-12-18