Incidental Mutation 'R4578:Tbx3'
ID 343399
Institutional Source Beutler Lab
Gene Symbol Tbx3
Ensembl Gene ENSMUSG00000018604
Gene Name T-box 3
Synonyms D5Ertd189e
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 119808734-119822789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119820841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 617 (R617L)
Ref Sequence ENSEMBL: ENSMUSP00000112519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018748] [ENSMUST00000079719] [ENSMUST00000121021]
AlphaFold P70324
Predicted Effect possibly damaging
Transcript: ENSMUST00000018748
AA Change: R637L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018748
Gene: ENSMUSG00000018604
AA Change: R637L

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: R617L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078657
Gene: ENSMUSG00000018604
AA Change: R617L

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: R617L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112519
Gene: ENSMUSG00000018604
AA Change: R617L

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Crybg3 C T 16: 59,350,564 (GRCm39) C892Y probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hcn2 G A 10: 79,560,282 (GRCm39) probably null Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tnrc6a A G 7: 122,783,444 (GRCm39) R1471G possibly damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V 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
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'- GTGGTTTGCCCCAGATAGTAGG -3'
(R):5'- TGACAAGGACACTGAGCCAG -3'

Sequencing Primer
(F):5'- TGGAGGAGAAGGGTTCCCC -3'
(R):5'- CACTGAGCCAGAGGACAGC -3'
Posted On 2015-09-24