Incidental Mutation 'R1756:Tbx5'
ID 194852
Institutional Source Beutler Lab
Gene Symbol Tbx5
Ensembl Gene ENSMUSG00000018263
Gene Name T-box 5
MMRRC Submission 039788-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1756 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 119832668-119885219 bp(+) (GRCm38)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 119845113 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018407] [ENSMUST00000202504] [ENSMUST00000202723]
AlphaFold P70326
Predicted Effect probably benign
Transcript: ENSMUST00000018407
AA Change: H220L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: H220L

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 null
Transcript: ENSMUST00000202504
SMART Domains Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263

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

low complexity region 34 45 N/A INTRINSIC
TBOX 53 120 3.1e-9 SMART
Meta Mutation Damage Score 0.1082 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 100% (96/96)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,068,061 (GRCm38) H382Q possibly damaging Het
A330008L17Rik C A 8: 99,421,882 (GRCm38) noncoding transcript Het
Acin1 A G 14: 54,665,204 (GRCm38) V377A probably benign Het
Adam39 A T 8: 40,825,324 (GRCm38) I251F probably damaging Het
Adnp2 A T 18: 80,127,697 (GRCm38) *1166K probably null Het
Akap12 T A 10: 4,357,574 (GRCm38) D1461E probably benign Het
Apba1 A G 19: 23,893,692 (GRCm38) D296G possibly damaging Het
Apol7a G T 15: 77,393,471 (GRCm38) L26M possibly damaging Het
Bcl2 C T 1: 106,712,392 (GRCm38) M163I probably damaging Het
Cap2 T G 13: 46,531,013 (GRCm38) I53R probably benign Het
Ccdc105 T A 10: 78,747,197 (GRCm38) K451M probably damaging Het
Ccdc74a T C 16: 17,650,468 (GRCm38) V318A possibly damaging Het
Ccnb2 A G 9: 70,410,788 (GRCm38) V234A probably benign Het
Cd207 C T 6: 83,675,597 (GRCm38) V184I probably benign Het
Cdk12 C A 11: 98,241,761 (GRCm38) C1005* probably null Het
Cep83 T C 10: 94,750,267 (GRCm38) S344P probably damaging Het
Ces1g A T 8: 93,306,954 (GRCm38) Y447N probably benign Het
Cfap54 A T 10: 93,048,061 (GRCm38) L277Q probably damaging Het
Cfh A G 1: 140,100,877 (GRCm38) Y1027H probably damaging Het
Clcnkb T A 4: 141,415,214 (GRCm38) I28F possibly damaging Het
Clec4d A G 6: 123,267,109 (GRCm38) D59G probably damaging Het
Colq G A 14: 31,547,452 (GRCm38) P153S probably damaging Het
Crybg1 T A 10: 43,986,279 (GRCm38) T1500S probably damaging Het
Cyp2d34 T A 15: 82,617,524 (GRCm38) R262W probably damaging Het
Dennd4b C G 3: 90,271,605 (GRCm38) L559V probably damaging Het
Dhrs1 A G 14: 55,739,309 (GRCm38) V306A probably benign Het
Diaph1 A T 18: 37,854,573 (GRCm38) D1043E possibly damaging Het
Dis3 G T 14: 99,086,103 (GRCm38) D538E probably damaging Het
Dnaic2 T G 11: 114,750,380 (GRCm38) S344A probably benign Het
Dner C T 1: 84,445,590 (GRCm38) V431M probably damaging Het
Dnm1l A G 16: 16,342,695 (GRCm38) probably null Het
Eps15 T G 4: 109,312,918 (GRCm38) L139* probably null Het
Fam193a T A 5: 34,466,292 (GRCm38) I55N possibly damaging Het
Gm10308 T A 17: 91,088,957 (GRCm38) Y102* probably null Het
Gm10509 A G 17: 21,690,855 (GRCm38) K30E possibly damaging Het
Gm4778 A T 3: 94,266,218 (GRCm38) M174L probably benign Het
Gm9573 A T 17: 35,619,239 (GRCm38) probably benign Het
Gpr155 T C 2: 73,367,577 (GRCm38) M400V probably benign Het
H2-M10.2 T C 17: 36,286,123 (GRCm38) probably benign Het
Heatr1 G T 13: 12,396,460 (GRCm38) A61S probably benign Het
Helb G T 10: 120,094,242 (GRCm38) T744K probably damaging Het
Hmcn1 C A 1: 150,599,030 (GRCm38) W4702L probably damaging Het
Hmcn2 C T 2: 31,396,120 (GRCm38) R2095W probably damaging Het
Igfbp3 G C 11: 7,208,461 (GRCm38) D267E probably damaging Het
Ighmbp2 T A 19: 3,268,669 (GRCm38) H469L probably damaging Het
Kcnj3 A C 2: 55,437,220 (GRCm38) K7T probably damaging Het
Krtap5-5 T G 7: 142,229,621 (GRCm38) K97N unknown Het
Lcor T C 19: 41,559,266 (GRCm38) S430P probably benign Het
Lpin1 A G 12: 16,538,540 (GRCm38) V883A probably damaging Het
Lrp1b T C 2: 41,110,825 (GRCm38) Y2243C probably damaging Het
Lrrc46 G A 11: 97,034,730 (GRCm38) probably benign Het
Man1c1 G C 4: 134,703,438 (GRCm38) P11R probably damaging Het
Mpdz C T 4: 81,306,877 (GRCm38) V1438M possibly damaging Het
Ncbp1 T A 4: 46,169,131 (GRCm38) L635* probably null Het
Nipbl T C 15: 8,338,551 (GRCm38) N1202D possibly damaging Het
Nphs1 A G 7: 30,461,534 (GRCm38) D196G probably benign Het
Nupl1 A T 14: 60,244,670 (GRCm38) probably benign Het
Olfr1008 A G 2: 85,690,083 (GRCm38) Y218C probably damaging Het
Olfr1360 A G 13: 21,674,695 (GRCm38) I83T probably benign Het
Olfr901 A T 9: 38,430,995 (GRCm38) I238F probably benign Het
Pax8 A T 2: 24,435,821 (GRCm38) N350K probably damaging Het
Pik3cd T C 4: 149,658,750 (GRCm38) K298E probably benign Het
Pkd1 C T 17: 24,594,485 (GRCm38) R4000C probably damaging Het
Pkn2 A T 3: 142,810,727 (GRCm38) V546D possibly damaging Het
Plcg2 A G 8: 117,592,708 (GRCm38) K673E probably benign Het
Pld4 T G 12: 112,763,392 (GRCm38) probably null Het
Plek A T 11: 16,992,901 (GRCm38) N130K probably damaging Het
Prune2 G A 19: 17,123,704 (GRCm38) D2191N probably benign Het
Ptgis T C 2: 167,206,803 (GRCm38) Y431C probably damaging Het
Rhbdf2 T C 11: 116,607,266 (GRCm38) S36G probably benign Het
Rtn4ip1 C T 10: 43,910,830 (GRCm38) A178V probably damaging Het
Rxfp1 A G 3: 79,670,881 (GRCm38) S168P probably benign Het
Sec24a A G 11: 51,733,763 (GRCm38) probably benign Het
Shf G A 2: 122,368,682 (GRCm38) P51S probably damaging Het
Slitrk6 C T 14: 110,750,552 (GRCm38) M574I probably benign Het
Slk T C 19: 47,622,677 (GRCm38) F861L probably damaging Het
Smpd3 C A 8: 106,264,971 (GRCm38) A317S probably benign Het
Spz1 T A 13: 92,575,125 (GRCm38) Q281L probably damaging Het
Syde1 T A 10: 78,586,980 (GRCm38) R519S probably benign Het
Taf4 T C 2: 179,976,531 (GRCm38) H39R unknown Het
Tenm2 C T 11: 36,063,177 (GRCm38) G1236R possibly damaging Het
Th G A 7: 142,898,166 (GRCm38) Q19* probably null Het
Tmprss11a T A 5: 86,420,179 (GRCm38) I230F probably damaging Het
Tnfrsf14 T A 4: 154,925,322 (GRCm38) H50L possibly damaging Het
Tpp2 T A 1: 43,978,725 (GRCm38) probably null Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim2 A G 3: 84,190,800 (GRCm38) I398T possibly damaging Het
Trpc5 A T X: 144,481,226 (GRCm38) S212T probably damaging Het
Ttn A G 2: 76,787,334 (GRCm38) probably benign Het
Unc80 A G 1: 66,639,248 (GRCm38) T2063A possibly damaging Het
Usp37 A T 1: 74,479,655 (GRCm38) S260T probably benign Het
Vcan A G 13: 89,691,681 (GRCm38) S1915P probably benign Het
Vmn1r33 T A 6: 66,612,298 (GRCm38) I91F possibly damaging Het
Zfp422 T C 6: 116,626,424 (GRCm38) T205A probably benign Het
Other mutations in Tbx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Tbx5 APN 5 119,883,026 (GRCm38) missense probably benign
IGL01595:Tbx5 APN 5 119,840,838 (GRCm38) missense probably damaging 1.00
IGL01758:Tbx5 APN 5 119,844,958 (GRCm38) unclassified probably benign
IGL02239:Tbx5 APN 5 119,871,280 (GRCm38) missense possibly damaging 0.68
IGL02625:Tbx5 APN 5 119,836,907 (GRCm38) utr 5 prime probably benign
IGL03326:Tbx5 APN 5 119,871,298 (GRCm38) missense probably damaging 0.99
R0477:Tbx5 UTSW 5 119,883,119 (GRCm38) missense possibly damaging 0.89
R0485:Tbx5 UTSW 5 119,883,458 (GRCm38) missense probably benign 0.00
R1218:Tbx5 UTSW 5 119,838,720 (GRCm38) missense probably damaging 1.00
R2011:Tbx5 UTSW 5 119,841,906 (GRCm38) splice site probably null
R2125:Tbx5 UTSW 5 119,836,923 (GRCm38) missense probably benign
R2126:Tbx5 UTSW 5 119,836,923 (GRCm38) missense probably benign
R2268:Tbx5 UTSW 5 119,845,109 (GRCm38) splice site probably null
R2302:Tbx5 UTSW 5 119,841,859 (GRCm38) missense probably damaging 1.00
R4693:Tbx5 UTSW 5 119,841,899 (GRCm38) missense probably damaging 1.00
R4930:Tbx5 UTSW 5 119,883,025 (GRCm38) missense probably benign 0.44
R5062:Tbx5 UTSW 5 119,836,922 (GRCm38) missense probably damaging 0.99
R5245:Tbx5 UTSW 5 119,883,165 (GRCm38) missense possibly damaging 0.95
R6067:Tbx5 UTSW 5 119,883,146 (GRCm38) missense probably benign
R6079:Tbx5 UTSW 5 119,883,146 (GRCm38) missense probably benign
R6138:Tbx5 UTSW 5 119,883,146 (GRCm38) missense probably benign
R6218:Tbx5 UTSW 5 119,853,598 (GRCm38) missense probably damaging 1.00
R6528:Tbx5 UTSW 5 119,883,111 (GRCm38) missense probably damaging 0.97
R6700:Tbx5 UTSW 5 119,871,397 (GRCm38) missense probably benign 0.30
R6993:Tbx5 UTSW 5 119,871,389 (GRCm38) missense possibly damaging 0.75
R7777:Tbx5 UTSW 5 119,883,167 (GRCm38) missense probably benign 0.00
R7801:Tbx5 UTSW 5 119,836,999 (GRCm38) missense probably benign 0.44
R8056:Tbx5 UTSW 5 119,853,613 (GRCm38) missense probably benign
R8772:Tbx5 UTSW 5 119,838,725 (GRCm38) missense probably benign 0.02
R9706:Tbx5 UTSW 5 119,841,844 (GRCm38) missense probably benign 0.42
U15987:Tbx5 UTSW 5 119,883,146 (GRCm38) missense probably benign
X0028:Tbx5 UTSW 5 119,845,119 (GRCm38) critical splice donor site probably null
Z1176:Tbx5 UTSW 5 119,883,315 (GRCm38) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23