Incidental Mutation 'R4693:Tbx3'
ID 355025
Institutional Source Beutler Lab
Gene Symbol Tbx3
Ensembl Gene ENSMUSG00000018604
Gene Name T-box 3
Synonyms D5Ertd189e
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4693 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 119808734-119822789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119815635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 292 (E292K)
Ref Sequence ENSEMBL: ENSMUSP00000112519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018748] [ENSMUST00000079719] [ENSMUST00000121021]
AlphaFold P70324
Predicted Effect probably benign
Transcript: ENSMUST00000018748
AA Change: E312K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: E312K

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
TBOX 102 310 6.4e-125 SMART
Pfam:TBX 323 411 8.8e-29 PFAM
low complexity region 492 510 N/A INTRINSIC
low complexity region 524 538 N/A INTRINSIC
low complexity region 556 576 N/A INTRINSIC
low complexity region 607 620 N/A INTRINSIC
low complexity region 662 710 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079719
AA Change: E292K

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: E292K

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
TBOX 102 290 1.01e-127 SMART
Pfam:TBX 303 391 6.5e-29 PFAM
low complexity region 472 490 N/A INTRINSIC
low complexity region 504 518 N/A INTRINSIC
low complexity region 536 556 N/A INTRINSIC
low complexity region 587 600 N/A INTRINSIC
low complexity region 642 690 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121021
AA Change: E292K

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: E292K

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
TBOX 102 290 1.01e-127 SMART
Pfam:TBX 303 391 6.5e-29 PFAM
low complexity region 472 490 N/A INTRINSIC
low complexity region 504 518 N/A INTRINSIC
low complexity region 536 556 N/A INTRINSIC
low complexity region 587 600 N/A INTRINSIC
low complexity region 642 690 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202034
Meta Mutation Damage Score 0.1755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (79/79)
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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,004,125 (GRCm39) Y478H probably damaging Het
Adar A T 3: 89,643,247 (GRCm39) H128L probably damaging Het
Angptl6 G T 9: 20,786,598 (GRCm39) D349E probably damaging Het
Anxa9 T C 3: 95,204,667 (GRCm39) T286A probably benign Het
Apobr A G 7: 126,186,019 (GRCm39) N510S probably damaging Het
Atoh7 G T 10: 62,936,275 (GRCm39) R114L probably benign Het
Bank1 C G 3: 135,953,437 (GRCm39) R106P probably damaging Het
Best1 C T 19: 9,974,499 (GRCm39) G15D probably damaging Het
Best2 A T 8: 85,737,832 (GRCm39) F188I probably damaging Het
Ccdc88a T C 11: 29,432,241 (GRCm39) Y344H probably damaging Het
Col6a5 A G 9: 105,814,371 (GRCm39) L547P unknown Het
Cyp19a1 A T 9: 54,080,617 (GRCm39) S247T possibly damaging Het
Cyp26a1 T C 19: 37,686,925 (GRCm39) S126P probably benign Het
Dab1 G T 4: 104,536,750 (GRCm39) C180F probably damaging Het
Dclk2 T C 3: 86,722,400 (GRCm39) D412G possibly damaging Het
Dspp A T 5: 104,325,928 (GRCm39) S764C unknown Het
Dync1li1 C A 9: 114,535,166 (GRCm39) D143E probably damaging Het
Esm1 A T 13: 113,346,594 (GRCm39) D73V probably damaging Het
Etfdh A T 3: 79,513,110 (GRCm39) V431E probably damaging Het
Fam83c C T 2: 155,672,154 (GRCm39) R427H probably damaging Het
Galnt9 A G 5: 110,763,375 (GRCm39) Y93C probably damaging Het
Gm6818 G A 7: 38,100,126 (GRCm39) noncoding transcript Het
Gosr2 A G 11: 103,574,755 (GRCm39) S114P probably benign Het
Grip1 G A 10: 119,836,459 (GRCm39) V444I probably benign Het
Gvin-ps3 T G 7: 105,681,585 (GRCm39) noncoding transcript Het
Haus4 G T 14: 54,787,256 (GRCm39) A67E probably benign Het
Hectd2 T A 19: 36,591,738 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,695 (GRCm39) Y911H probably benign Het
Lim2 T C 7: 43,080,105 (GRCm39) Y31H probably damaging Het
Lims2 G A 18: 32,077,552 (GRCm39) R101H probably benign Het
Lrrc2 T A 9: 110,799,161 (GRCm39) M236K probably damaging Het
Lrrc37 T A 11: 103,510,686 (GRCm39) E427D unknown Het
Lrrk1 T C 7: 65,912,235 (GRCm39) Y1775C probably damaging Het
Mdga2 A G 12: 66,844,407 (GRCm39) V197A possibly damaging Het
Mfhas1 T A 8: 36,056,329 (GRCm39) L268Q probably damaging Het
Mlh1 A G 9: 111,084,726 (GRCm39) I216T probably damaging Het
Mrc2 G A 11: 105,234,528 (GRCm39) C1016Y probably benign Het
Mvp C A 7: 126,597,500 (GRCm39) V168F probably damaging Het
Mybphl A G 3: 108,282,494 (GRCm39) T176A probably benign Het
Myt1 T A 2: 181,437,532 (GRCm39) L81Q probably damaging Het
Ncbp3 T C 11: 72,966,503 (GRCm39) L453S probably benign Het
Or4c1 T A 2: 89,133,621 (GRCm39) E105V probably benign Het
Or4c114 T C 2: 88,905,412 (GRCm39) T8A possibly damaging Het
Or55b10 T A 7: 102,143,659 (GRCm39) I108F probably damaging Het
Or5b125-ps1 C A 19: 13,056,226 (GRCm39) noncoding transcript Het
Or5l14 A T 2: 87,793,053 (GRCm39) F61Y probably benign Het
Pak4 A T 7: 28,263,674 (GRCm39) M354K probably damaging Het
Pax3 T C 1: 78,173,383 (GRCm39) T2A probably benign Het
Pcdh17 A G 14: 84,770,960 (GRCm39) D1146G probably damaging Het
Pcyt1a T C 16: 32,289,042 (GRCm39) probably benign Het
Pfkp C T 13: 6,650,671 (GRCm39) G467D possibly damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Pth1r A G 9: 110,560,692 (GRCm39) V25A probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Ptprf T A 4: 118,068,219 (GRCm39) E1772D probably benign Het
Sall2 T C 14: 52,551,935 (GRCm39) H420R probably damaging Het
Sbds G A 5: 130,279,816 (GRCm39) R63W probably damaging Het
Sccpdh A G 1: 179,495,975 (GRCm39) T19A possibly damaging Het
Scn8a A T 15: 100,913,572 (GRCm39) D988V probably damaging Het
Slamf6 C T 1: 171,761,680 (GRCm39) Q34* probably null Het
Slc22a6 T A 19: 8,601,016 (GRCm39) I403N probably damaging Het
Sox5 T C 6: 143,781,042 (GRCm39) Y574C probably damaging Het
Sptbn5 T A 2: 119,889,897 (GRCm39) probably benign Het
Srcap T A 7: 127,137,716 (GRCm39) V1022E probably damaging Het
Tbx5 A T 5: 119,979,964 (GRCm39) H170L probably damaging Het
Tcf12 A T 9: 71,776,249 (GRCm39) probably benign Het
Themis G A 10: 28,658,647 (GRCm39) R558H probably damaging Het
Tiam1 T C 16: 89,640,170 (GRCm39) E849G possibly damaging Het
Vav3 A G 3: 109,470,534 (GRCm39) probably benign Het
Vmn2r90 T A 17: 17,953,956 (GRCm39) C707S possibly damaging Het
Vmn2r96 T G 17: 18,803,270 (GRCm39) N201K probably benign Het
Zfp148 C T 16: 33,288,505 (GRCm39) R207C probably damaging Het
Zfp648 G T 1: 154,080,152 (GRCm39) A104S probably benign Het
Other mutations in Tbx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Tbx3 APN 5 119,820,708 (GRCm39) missense probably benign 0.45
IGL02174:Tbx3 APN 5 119,813,649 (GRCm39) nonsense probably null
IGL02508:Tbx3 APN 5 119,816,877 (GRCm39) missense possibly damaging 0.48
IGL03035:Tbx3 APN 5 119,821,161 (GRCm39) utr 3 prime probably benign
R0047:Tbx3 UTSW 5 119,818,511 (GRCm39) missense probably damaging 0.99
R0184:Tbx3 UTSW 5 119,813,627 (GRCm39) missense probably damaging 1.00
R0365:Tbx3 UTSW 5 119,813,315 (GRCm39) missense possibly damaging 0.81
R1209:Tbx3 UTSW 5 119,819,018 (GRCm39) missense probably benign 0.19
R1956:Tbx3 UTSW 5 119,819,018 (GRCm39) missense probably benign 0.19
R2231:Tbx3 UTSW 5 119,815,589 (GRCm39) missense probably damaging 1.00
R4093:Tbx3 UTSW 5 119,818,813 (GRCm39) missense probably benign
R4400:Tbx3 UTSW 5 119,818,636 (GRCm39) missense probably damaging 0.99
R4578:Tbx3 UTSW 5 119,820,841 (GRCm39) missense probably damaging 0.99
R4716:Tbx3 UTSW 5 119,813,735 (GRCm39) missense possibly damaging 0.94
R4804:Tbx3 UTSW 5 119,818,577 (GRCm39) missense possibly damaging 0.63
R5664:Tbx3 UTSW 5 119,816,796 (GRCm39) missense possibly damaging 0.48
R5724:Tbx3 UTSW 5 119,813,668 (GRCm39) missense possibly damaging 0.75
R5990:Tbx3 UTSW 5 119,818,594 (GRCm39) missense probably benign 0.02
R6133:Tbx3 UTSW 5 119,819,018 (GRCm39) missense probably benign 0.19
R6180:Tbx3 UTSW 5 119,812,132 (GRCm39) missense probably damaging 1.00
R6429:Tbx3 UTSW 5 119,812,256 (GRCm39) nonsense probably null
R7154:Tbx3 UTSW 5 119,810,093 (GRCm39) missense possibly damaging 0.89
R7195:Tbx3 UTSW 5 119,813,648 (GRCm39) missense probably damaging 1.00
R7352:Tbx3 UTSW 5 119,815,625 (GRCm39) missense probably benign 0.00
R7921:Tbx3 UTSW 5 119,818,935 (GRCm39) missense probably benign 0.01
R7921:Tbx3 UTSW 5 119,818,934 (GRCm39) missense possibly damaging 0.76
R8050:Tbx3 UTSW 5 119,821,132 (GRCm39) missense probably benign 0.38
R8089:Tbx3 UTSW 5 119,818,634 (GRCm39) missense probably damaging 0.98
R8351:Tbx3 UTSW 5 119,818,841 (GRCm39) missense probably damaging 1.00
R8422:Tbx3 UTSW 5 119,818,581 (GRCm39) missense possibly damaging 0.94
R8885:Tbx3 UTSW 5 119,818,624 (GRCm39) missense probably benign
R8891:Tbx3 UTSW 5 119,809,983 (GRCm39) start gained probably benign
R8987:Tbx3 UTSW 5 119,818,886 (GRCm39) missense possibly damaging 0.78
R9240:Tbx3 UTSW 5 119,818,960 (GRCm39) missense probably benign
X0063:Tbx3 UTSW 5 119,818,946 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTCTCTTTGGATGCTTCAG -3'
(R):5'- GCAGCCTTAGTTCCCTTAGAG -3'

Sequencing Primer
(F):5'- CCTTAGGGCAGCGGCATTTATAG -3'
(R):5'- CCTTAGAGGGAAGCATACCTG -3'
Posted On 2015-10-21