Incidental Mutation 'U15987:Tbx5'
ID 478358
Institutional Source Beutler Lab
Gene Symbol Tbx5
Ensembl Gene ENSMUSG00000018263
Gene Name T-box 5
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # U15987 (G0')
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 119970733-120023284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120021211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 406 (S406P)
Ref Sequence ENSEMBL: ENSMUSP00000018407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018407]
AlphaFold P70326
Predicted Effect probably benign
Transcript: ENSMUST00000018407
AA Change: S406P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: S406P

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 90.8%
Validation Efficiency 95% (41/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abcc8 T C 7: 45,755,268 (GRCm39) M1511V probably benign Het
Abcc9 A G 6: 142,585,301 (GRCm39) F801S probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Cdc20b T C 13: 113,220,576 (GRCm39) F485S probably damaging Het
Ctnna1 T C 18: 35,287,567 (GRCm39) V92A probably benign Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Edc4 C T 8: 106,614,180 (GRCm39) R19C probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Msl1 G T 11: 98,689,519 (GRCm39) G9C probably benign Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Slc13a1 T C 6: 24,133,656 (GRCm39) T199A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Syt12 T C 19: 4,506,896 (GRCm39) D83G probably benign Het
Tfe3 T C X: 7,637,288 (GRCm39) L231P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn1r29 T C 6: 58,285,080 (GRCm39) F267L probably benign Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S probably damaging 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
R4693:Tbx5 UTSW 5 119,979,964 (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
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'- AGACACCTTCTATCGCTCGG -3'
(R):5'- GCCGTGAGTGTAGAGAAACTCTG -3'

Sequencing Primer
(F):5'- TATCGCTCGGGCTACCC -3'
(R):5'- TGACCACAGGCTGATGGG -3'
Posted On 2017-06-26