Incidental Mutation 'R1126:Tbx6'
ID 96168
Institutional Source Beutler Lab
Gene Symbol Tbx6
Ensembl Gene ENSMUSG00000030699
Gene Name T-box 6
Synonyms
MMRRC Submission 039199-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1126 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126380655-126384720 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126383891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 315 (T315I)
Ref Sequence ENSEMBL: ENSMUSP00000126418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032936] [ENSMUST00000038614] [ENSMUST00000094037] [ENSMUST00000106356] [ENSMUST00000106357] [ENSMUST00000145762] [ENSMUST00000172352] [ENSMUST00000205786] [ENSMUST00000206353] [ENSMUST00000205935] [ENSMUST00000206570] [ENSMUST00000170882]
AlphaFold P70327
Predicted Effect probably benign
Transcript: ENSMUST00000032936
SMART Domains Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697

DomainStartEndE-ValueType
PP2Ac 20 290 4.04e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038614
SMART Domains Protein: ENSMUSP00000037332
Gene: ENSMUSG00000042675

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 6.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094037
AA Change: T314I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699
AA Change: T314I

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 332 348 N/A INTRINSIC
low complexity region 414 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106356
SMART Domains Protein: ENSMUSP00000101963
Gene: ENSMUSG00000042675

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106357
SMART Domains Protein: ENSMUSP00000101964
Gene: ENSMUSG00000042675

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145762
SMART Domains Protein: ENSMUSP00000115596
Gene: ENSMUSG00000042675

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 103 2.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172352
AA Change: T315I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699
AA Change: T315I

DomainStartEndE-ValueType
low complexity region 55 75 N/A INTRINSIC
TBOX 90 278 1.79e-128 SMART
low complexity region 333 349 N/A INTRINSIC
low complexity region 415 429 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205950
Predicted Effect probably benign
Transcript: ENSMUST00000206353
Predicted Effect probably benign
Transcript: ENSMUST00000206477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206143
Predicted Effect probably benign
Transcript: ENSMUST00000205935
Predicted Effect probably benign
Transcript: ENSMUST00000206334
Predicted Effect probably benign
Transcript: ENSMUST00000206570
Predicted Effect probably benign
Transcript: ENSMUST00000170882
SMART Domains Protein: ENSMUSP00000128753
Gene: ENSMUSG00000042675

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 20 114 5.4e-21 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null embryos die during organogenesis exhibiting defects in paraxial mesoderm differentiation, ectopic neural tube development, kinked neural tubes, impaired somite development, hematomas, enlarged tail buds, and laterality defects associated with nodal cilium anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,759,062 (GRCm39) E1226G probably damaging Het
Arhgef40 G T 14: 52,234,583 (GRCm39) S962I probably damaging Het
Atp9b A T 18: 80,822,169 (GRCm39) M477K probably damaging Het
Enpp2 C T 15: 54,770,222 (GRCm39) probably null Het
Ephb3 T A 16: 21,041,226 (GRCm39) M727K possibly damaging Het
Exo5 A T 4: 120,779,322 (GRCm39) I181N probably damaging Het
Fbn1 T C 2: 125,163,112 (GRCm39) probably null Het
Gas6 T C 8: 13,533,700 (GRCm39) N103S probably benign Het
Gm11596 A T 11: 99,683,699 (GRCm39) C140* probably null Het
Il6st T C 13: 112,640,266 (GRCm39) Y681H probably damaging Het
Itih4 T C 14: 30,611,918 (GRCm39) probably null Het
Kdm5b C T 1: 134,541,729 (GRCm39) A768V possibly damaging Het
Krt87 A T 15: 101,385,363 (GRCm39) N336K probably damaging Het
Mfsd6 A G 1: 52,748,670 (GRCm39) V65A probably benign Het
Nipsnap1 A G 11: 4,834,081 (GRCm39) N90S probably benign Het
Nlrp9a C A 7: 26,260,166 (GRCm39) D640E probably benign Het
Or11h4b C T 14: 50,918,720 (GRCm39) A124T possibly damaging Het
Or1l4 A T 2: 37,092,113 (GRCm39) M287L probably benign Het
Or2j3 A G 17: 38,615,579 (GRCm39) C258R probably damaging Het
Or5p53 A C 7: 107,533,578 (GRCm39) M284L possibly damaging Het
Parp9 G A 16: 35,768,110 (GRCm39) V97I possibly damaging Het
Pdzd2 T C 15: 12,458,306 (GRCm39) T12A possibly damaging Het
Penk T C 4: 4,138,119 (GRCm39) T9A probably benign Het
Pilrb2 T C 5: 137,869,222 (GRCm39) D126G probably damaging Het
Pkdrej A T 15: 85,700,515 (GRCm39) V1807E probably damaging Het
Ppp1r9a A G 6: 4,906,795 (GRCm39) E450G possibly damaging Het
Rag1 T C 2: 101,473,034 (GRCm39) R703G probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rmdn3 T C 2: 118,984,476 (GRCm39) D92G probably benign Het
Rp1l1 G A 14: 64,267,918 (GRCm39) G1168D probably damaging Het
Saxo1 T A 4: 86,397,224 (GRCm39) T105S probably benign Het
Slc39a2 G A 14: 52,131,602 (GRCm39) G58R probably damaging Het
Tcf12 A G 9: 71,907,715 (GRCm39) M99T probably benign Het
Tdrd3 A G 14: 87,718,210 (GRCm39) D197G probably damaging Het
Tnc T C 4: 63,936,357 (GRCm39) N193S probably damaging Het
Ttn A G 2: 76,680,347 (GRCm39) probably benign Het
Vmn1r225 A G 17: 20,722,588 (GRCm39) I10V probably benign Het
Zp3r A G 1: 130,546,079 (GRCm39) L77P probably damaging Het
Other mutations in Tbx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Tbx6 APN 7 126,380,701 (GRCm39) missense probably damaging 1.00
IGL01899:Tbx6 APN 7 126,383,704 (GRCm39) unclassified probably benign
R1018:Tbx6 UTSW 7 126,382,364 (GRCm39) unclassified probably benign
R2045:Tbx6 UTSW 7 126,382,055 (GRCm39) missense probably damaging 1.00
R4913:Tbx6 UTSW 7 126,383,707 (GRCm39) critical splice acceptor site probably null
R5251:Tbx6 UTSW 7 126,382,516 (GRCm39) missense probably damaging 1.00
R5926:Tbx6 UTSW 7 126,384,025 (GRCm39) missense possibly damaging 0.53
R5927:Tbx6 UTSW 7 126,384,025 (GRCm39) missense possibly damaging 0.53
R6285:Tbx6 UTSW 7 126,380,740 (GRCm39) missense possibly damaging 0.57
R7072:Tbx6 UTSW 7 126,383,912 (GRCm39) missense probably benign 0.37
R8023:Tbx6 UTSW 7 126,382,031 (GRCm39) missense possibly damaging 0.88
R8544:Tbx6 UTSW 7 126,380,656 (GRCm39) splice site probably null
R9046:Tbx6 UTSW 7 126,381,120 (GRCm39) critical splice donor site probably null
R9102:Tbx6 UTSW 7 126,381,014 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TACAAGTCTGAGAGGAACCTCCGC -3'
(R):5'- TGGTACAGATGGAGCTGCCTGATAG -3'

Sequencing Primer
(F):5'- catcatcatcacatcatcatcgtc -3'
(R):5'- CTGTAGGTCCAGAAATGCAGC -3'
Posted On 2014-01-05