Incidental Mutation 'IGL01595:Tbx5'
ID 93377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx5
Ensembl Gene ENSMUSG00000018263
Gene Name T-box 5
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # IGL01595
Quality Score
Status
Chromosome 5
Chromosomal Location 119970733-120023284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119978903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 105 (D105V)
Ref Sequence ENSEMBL: ENSMUSP00000144418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018407] [ENSMUST00000202504] [ENSMUST00000202723]
AlphaFold P70326
Predicted Effect probably damaging
Transcript: ENSMUST00000018407
AA Change: D105V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018407
Gene: ENSMUSG00000018263
AA Change: D105V

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: D105V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143828
Gene: ENSMUSG00000018263
AA Change: D105V

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
TBOX 53 218 6.3e-100 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202723
AA Change: D105V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144418
Gene: ENSMUSG00000018263
AA Change: D105V

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
TBOX 53 120 3.1e-9 SMART
Coding Region Coverage
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 22,968,181 (GRCm39) M111V probably damaging Het
Adamts14 A T 10: 61,041,252 (GRCm39) H819Q probably damaging Het
Adamts7 T A 9: 90,075,359 (GRCm39) N1072K probably benign Het
Ahnak T A 19: 8,980,865 (GRCm39) Y716* probably null Het
Arfgef3 T C 10: 18,470,660 (GRCm39) K1702E possibly damaging Het
BB014433 C A 8: 15,092,499 (GRCm39) probably null Het
Bdnf A T 2: 109,554,273 (GRCm39) K176* probably null Het
C2cd5 C T 6: 142,963,748 (GRCm39) R879H probably damaging Het
Capn11 T A 17: 45,950,360 (GRCm39) H327L probably benign Het
Ccdc68 A G 18: 70,089,117 (GRCm39) N220S probably benign Het
Cftr T C 6: 18,198,238 (GRCm39) probably benign Het
Clca3a2 G A 3: 144,793,768 (GRCm39) L296F probably damaging Het
Cubn A T 2: 13,330,027 (GRCm39) L2618Q probably benign Het
Gfi1b A G 2: 28,501,429 (GRCm39) probably null Het
Gpr37 G T 6: 25,669,572 (GRCm39) T424N probably damaging Het
Kank3 G A 17: 34,038,154 (GRCm39) probably null Het
Kcnh5 T C 12: 74,945,101 (GRCm39) Q716R probably benign Het
Kntc1 G A 5: 123,941,758 (GRCm39) M1817I probably benign Het
Krt79 T G 15: 101,840,206 (GRCm39) E330A probably damaging Het
Mapk15 C A 15: 75,867,129 (GRCm39) P82Q probably benign Het
Myh15 A T 16: 48,993,312 (GRCm39) D1649V probably damaging Het
Myo1d T C 11: 80,566,936 (GRCm39) I326V probably benign Het
Nek9 A T 12: 85,361,194 (GRCm39) W504R probably damaging Het
Nlrp4c T A 7: 6,069,111 (GRCm39) C337* probably null Het
Nup160 A G 2: 90,560,081 (GRCm39) N1269D probably damaging Het
Or52e3 A G 7: 102,869,558 (GRCm39) D211G probably damaging Het
Or56b2 T C 7: 104,337,285 (GRCm39) M21T possibly damaging Het
Or8c10 T C 9: 38,279,346 (GRCm39) V168A probably benign Het
Pde6a A G 18: 61,414,599 (GRCm39) M36V probably damaging Het
Perp A G 10: 18,731,407 (GRCm39) Q122R probably damaging Het
S100a7a T C 3: 90,565,107 (GRCm39) Y101H probably benign Het
Sbk2 C A 7: 4,960,712 (GRCm39) V153L possibly damaging Het
Serpinb7 A T 1: 107,356,052 (GRCm39) N25I probably damaging Het
Trip6 T A 5: 137,311,675 (GRCm39) T101S probably benign Het
Ush2a T A 1: 188,386,921 (GRCm39) probably null Het
Other mutations in Tbx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Tbx5 APN 5 120,021,091 (GRCm39) missense probably benign
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
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
Posted On 2013-12-09