Incidental Mutation 'IGL01587:Tbx18'
ID 93367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx18
Ensembl Gene ENSMUSG00000032419
Gene Name T-box18
Synonyms 2810012F10Rik, 2810404D13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01587
Quality Score
Status
Chromosome 9
Chromosomal Location 87584853-87613313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87606461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 228 (V228A)
Ref Sequence ENSEMBL: ENSMUSP00000034991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034991]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034991
AA Change: V228A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: V228A

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
low complexity region 67 87 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
TBOX 144 341 8.7e-127 SMART
low complexity region 461 476 N/A INTRINSIC
low complexity region 555 567 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192660
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 G A 11: 30,456,362 (GRCm39) S95F probably benign Het
Casr A T 16: 36,330,127 (GRCm39) N402K probably benign Het
Col24a1 A G 3: 145,139,110 (GRCm39) probably null Het
Eps8 A G 6: 137,491,711 (GRCm39) F339S probably damaging Het
Gnaz T A 10: 74,827,776 (GRCm39) L176Q probably damaging Het
Pik3c2g T A 6: 139,700,467 (GRCm39) Y134* probably null Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sh3rf1 A G 8: 61,679,092 (GRCm39) N45D probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Tas1r3 C T 4: 155,945,816 (GRCm39) V527M probably damaging Het
Tenm4 G A 7: 96,512,709 (GRCm39) V1319I probably benign Het
Utp20 C T 10: 88,623,397 (GRCm39) R1044Q probably damaging Het
Other mutations in Tbx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Tbx18 APN 9 87,587,676 (GRCm39) missense possibly damaging 0.90
IGL00832:Tbx18 APN 9 87,587,714 (GRCm39) missense probably damaging 1.00
IGL01287:Tbx18 APN 9 87,606,384 (GRCm39) missense probably damaging 0.98
IGL01406:Tbx18 APN 9 87,595,596 (GRCm39) missense probably damaging 0.99
IGL01898:Tbx18 APN 9 87,589,912 (GRCm39) missense possibly damaging 0.92
IGL02624:Tbx18 APN 9 87,609,459 (GRCm39) missense probably damaging 1.00
IGL03057:Tbx18 APN 9 87,612,882 (GRCm39) missense probably damaging 0.99
IGL03252:Tbx18 APN 9 87,587,633 (GRCm39) missense probably damaging 1.00
R0126:Tbx18 UTSW 9 87,611,706 (GRCm39) missense possibly damaging 0.50
R0243:Tbx18 UTSW 9 87,597,569 (GRCm39) splice site probably benign
R0374:Tbx18 UTSW 9 87,606,408 (GRCm39) missense probably damaging 0.97
R0666:Tbx18 UTSW 9 87,606,462 (GRCm39) missense probably benign 0.13
R2141:Tbx18 UTSW 9 87,597,706 (GRCm39) missense probably damaging 0.99
R2183:Tbx18 UTSW 9 87,587,789 (GRCm39) missense probably damaging 0.98
R2233:Tbx18 UTSW 9 87,606,403 (GRCm39) missense probably damaging 1.00
R2234:Tbx18 UTSW 9 87,606,403 (GRCm39) missense probably damaging 1.00
R2235:Tbx18 UTSW 9 87,606,403 (GRCm39) missense probably damaging 1.00
R3835:Tbx18 UTSW 9 87,611,689 (GRCm39) missense probably benign
R4214:Tbx18 UTSW 9 87,606,518 (GRCm39) missense probably damaging 1.00
R4606:Tbx18 UTSW 9 87,612,822 (GRCm39) missense possibly damaging 0.84
R4834:Tbx18 UTSW 9 87,609,502 (GRCm39) missense possibly damaging 0.48
R5112:Tbx18 UTSW 9 87,597,740 (GRCm39) missense probably damaging 1.00
R5887:Tbx18 UTSW 9 87,595,566 (GRCm39) missense possibly damaging 0.58
R6628:Tbx18 UTSW 9 87,597,588 (GRCm39) nonsense probably null
R6659:Tbx18 UTSW 9 87,589,864 (GRCm39) missense probably damaging 1.00
R7001:Tbx18 UTSW 9 87,609,457 (GRCm39) missense probably damaging 1.00
R7057:Tbx18 UTSW 9 87,587,317 (GRCm39) missense possibly damaging 0.94
R7167:Tbx18 UTSW 9 87,589,883 (GRCm39) missense probably damaging 1.00
R7368:Tbx18 UTSW 9 87,612,750 (GRCm39) missense probably benign
R8147:Tbx18 UTSW 9 87,606,411 (GRCm39) missense probably damaging 0.97
R8993:Tbx18 UTSW 9 87,612,770 (GRCm39) missense probably benign 0.00
R9263:Tbx18 UTSW 9 87,611,521 (GRCm39) missense probably damaging 0.97
R9291:Tbx18 UTSW 9 87,611,535 (GRCm39) missense probably damaging 1.00
R9396:Tbx18 UTSW 9 87,609,432 (GRCm39) missense probably damaging 1.00
R9420:Tbx18 UTSW 9 87,612,675 (GRCm39) missense probably benign
R9508:Tbx18 UTSW 9 87,587,926 (GRCm39) missense probably damaging 0.96
R9577:Tbx18 UTSW 9 87,611,512 (GRCm39) critical splice donor site probably null
Posted On 2013-12-09