Incidental Mutation 'R4693:Tbx5'
ID 397175
Institutional Source Beutler Lab
Gene Symbol Tbx5
Ensembl Gene ENSMUSG00000018263
Gene Name T-box 5
Synonyms
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # R4693 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 119970733-120023284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119979964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 170 (H170L)
Ref Sequence ENSEMBL: ENSMUSP00000018407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018407] [ENSMUST00000202504] [ENSMUST00000202723]
AlphaFold P70326
Predicted Effect probably damaging
Transcript: ENSMUST00000018407
AA Change: H170L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: H170L

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
TBOX 53 243 9.61e-129 SMART
low complexity region 381 392 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202504
AA Change: H170L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263
AA Change: H170L

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
TBOX 53 218 6.3e-100 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202723
SMART Domains Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
TBOX 53 120 3.1e-9 SMART
Meta Mutation Damage Score 0.9533 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 gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state. [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
Tbx3 G A 5: 119,815,635 (GRCm39) E292K possibly 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 Tbx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Tbx5 APN 5 120,021,091 (GRCm39) missense probably benign
IGL01595:Tbx5 APN 5 119,978,903 (GRCm39) missense probably damaging 1.00
IGL01758:Tbx5 APN 5 119,983,023 (GRCm39) unclassified probably benign
IGL02239:Tbx5 APN 5 120,009,345 (GRCm39) missense possibly damaging 0.68
IGL02625:Tbx5 APN 5 119,974,972 (GRCm39) utr 5 prime probably benign
IGL03326:Tbx5 APN 5 120,009,363 (GRCm39) missense probably damaging 0.99
R0477:Tbx5 UTSW 5 120,021,184 (GRCm39) missense possibly damaging 0.89
R0485:Tbx5 UTSW 5 120,021,523 (GRCm39) missense probably benign 0.00
R1218:Tbx5 UTSW 5 119,976,785 (GRCm39) missense probably damaging 1.00
R1756:Tbx5 UTSW 5 119,983,178 (GRCm39) splice site probably null
R2011:Tbx5 UTSW 5 119,979,971 (GRCm39) splice site probably null
R2125:Tbx5 UTSW 5 119,974,988 (GRCm39) missense probably benign
R2126:Tbx5 UTSW 5 119,974,988 (GRCm39) missense probably benign
R2268:Tbx5 UTSW 5 119,983,174 (GRCm39) splice site probably null
R2302:Tbx5 UTSW 5 119,979,924 (GRCm39) missense probably damaging 1.00
R4930:Tbx5 UTSW 5 120,021,090 (GRCm39) missense probably benign 0.44
R5062:Tbx5 UTSW 5 119,974,987 (GRCm39) missense probably damaging 0.99
R5245:Tbx5 UTSW 5 120,021,230 (GRCm39) missense possibly damaging 0.95
R6067:Tbx5 UTSW 5 120,021,211 (GRCm39) missense probably benign
R6079:Tbx5 UTSW 5 120,021,211 (GRCm39) missense probably benign
R6138:Tbx5 UTSW 5 120,021,211 (GRCm39) missense probably benign
R6218:Tbx5 UTSW 5 119,991,663 (GRCm39) missense probably damaging 1.00
R6528:Tbx5 UTSW 5 120,021,176 (GRCm39) missense probably damaging 0.97
R6700:Tbx5 UTSW 5 120,009,462 (GRCm39) missense probably benign 0.30
R6993:Tbx5 UTSW 5 120,009,454 (GRCm39) missense possibly damaging 0.75
R7777:Tbx5 UTSW 5 120,021,232 (GRCm39) missense probably benign 0.00
R7801:Tbx5 UTSW 5 119,975,064 (GRCm39) missense probably benign 0.44
R8056:Tbx5 UTSW 5 119,991,678 (GRCm39) missense probably benign
R8772:Tbx5 UTSW 5 119,976,790 (GRCm39) missense probably benign 0.02
R9706:Tbx5 UTSW 5 119,979,909 (GRCm39) missense probably benign 0.42
U15987:Tbx5 UTSW 5 120,021,211 (GRCm39) missense probably benign
X0028:Tbx5 UTSW 5 119,983,184 (GRCm39) critical splice donor site probably null
Z1176:Tbx5 UTSW 5 120,021,380 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCAGCTCTCTTCTGACCAG -3'
(R):5'- CTGACAACTTCAGCCTTGAGG -3'

Sequencing Primer
(F):5'- TCTGACCAGCTACCTCCAGG -3'
(R):5'- GGTGGGTCCCAATTAGCTG -3'
Posted On 2016-06-27