Incidental Mutation 'R4400:Tbx3'
ID 326581
Institutional Source Beutler Lab
Gene Symbol Tbx3
Ensembl Gene ENSMUSG00000018604
Gene Name T-box 3
Synonyms D5Ertd189e
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4400 (G1)
Quality Score 160
Status Not validated
Chromosome 5
Chromosomal Location 119808734-119822789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119818636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 404 (D404Y)
Ref Sequence ENSEMBL: ENSMUSP00000112519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018748] [ENSMUST00000079719] [ENSMUST00000121021]
AlphaFold P70324
Predicted Effect probably damaging
Transcript: ENSMUST00000018748
AA Change: D424Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: D424Y

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 probably damaging
Transcript: ENSMUST00000079719
AA Change: D404Y

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: D404Y

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 probably damaging
Transcript: ENSMUST00000121021
AA Change: D404Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: D404Y

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: ENSMUST00000135385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154680
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4b A G 8: 13,438,810 (GRCm39) F189L probably damaging Het
Atp8a1 A T 5: 67,922,221 (GRCm39) Y372N probably benign Het
Bves T C 10: 45,245,389 (GRCm39) V354A probably benign Het
Cd79b A T 11: 106,202,836 (GRCm39) Y195* probably null Het
Cog6 A C 3: 52,920,362 (GRCm39) D131E probably benign Het
Elp3 C T 14: 65,785,539 (GRCm39) E421K possibly damaging Het
Fbxw28 A T 9: 109,157,378 (GRCm39) F237Y probably damaging Het
Fezf1 T C 6: 23,247,709 (GRCm39) N122S probably benign Het
Galnt2 A G 8: 125,051,042 (GRCm39) K157E probably damaging Het
Git2 T C 5: 114,871,970 (GRCm39) E141G possibly damaging Het
Gm26888 T C 11: 119,044,853 (GRCm39) silent Het
Gnrhr T C 5: 86,330,108 (GRCm39) probably null Het
Hoxd13 A T 2: 74,500,359 (GRCm39) D300V probably damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Hyal2 A G 9: 107,448,052 (GRCm39) N235S probably damaging Het
Itgam T G 7: 127,680,830 (GRCm39) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Matr3 A T 18: 35,716,969 (GRCm39) K591N possibly damaging Het
Mep1a T A 17: 43,785,897 (GRCm39) I731F possibly damaging Het
Mrtfa G A 15: 80,905,124 (GRCm39) Q103* probably null Het
Muc5b A G 7: 141,415,124 (GRCm39) D2690G possibly damaging Het
Nlrc5 A G 8: 95,220,981 (GRCm39) Q1140R probably benign Het
Or14c39 A G 7: 86,343,798 (GRCm39) I45V probably benign Het
Or5ac23 C T 16: 59,148,961 (GRCm39) V304I probably benign Het
Or6b6 A G 7: 106,571,209 (GRCm39) L114P probably damaging Het
Plcl1 T C 1: 55,754,736 (GRCm39) F1028L probably damaging Het
Plpp2 A G 10: 79,363,327 (GRCm39) V106A possibly damaging Het
Prpf8 A G 11: 75,381,528 (GRCm39) T255A possibly damaging Het
Shoc2 A G 19: 54,019,660 (GRCm39) I568V probably benign Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Ssrp1 A T 2: 84,868,285 (GRCm39) D9V probably damaging Het
Strn3 A T 12: 51,694,883 (GRCm39) D293E possibly damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm39) S416P possibly damaging Het
Trim60 G T 8: 65,453,864 (GRCm39) Y128* probably null Het
Tspoap1 T C 11: 87,666,429 (GRCm39) S947P probably damaging Het
Ttn A T 2: 76,612,739 (GRCm39) S17113R probably damaging Het
Ubqln1 T A 13: 58,341,202 (GRCm39) N183I probably damaging Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Ucp2 A G 7: 100,148,557 (GRCm39) *310W probably null Het
Wdr76 A G 2: 121,359,314 (GRCm39) M218V probably damaging Het
Zranb3 A C 1: 127,884,392 (GRCm39) L998R possibly damaging Het
Zxdc G A 6: 90,346,792 (GRCm39) G51E probably damaging 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
R4578:Tbx3 UTSW 5 119,820,841 (GRCm39) missense probably damaging 0.99
R4693:Tbx3 UTSW 5 119,815,635 (GRCm39) missense possibly damaging 0.72
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'- AGATTGACCATCCGTTTCCC -3'
(R):5'- TGCCCGTTGAAGAACTGCTG -3'

Sequencing Primer
(F):5'- CCAAGATCTGTGTCCCAGC -3'
(R):5'- TTGAAGAACTGCTGGCCCG -3'
Posted On 2015-07-07