Incidental Mutation 'IGL02015:Tbx21'
ID183700
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: 0.287) question?
Stock #IGL02015
Quality Score
Status
Chromosome11
Chromosomal Location97098071-97115331 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97098914 bp
ZygosityHeterozygous
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]
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

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging 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
IGL02930:Tbx21 APN 11 97100039 missense probably damaging 1.00
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 On2014-05-07