Incidental Mutation 'IGL01287:Tbx18'
ID72782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx18
Ensembl Gene ENSMUSG00000032419
Gene NameT-box18
Synonyms2810404D13Rik, 2810012F10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01287
Quality Score
Status
Chromosome9
Chromosomal Location87702800-87731260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87724331 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 254 (T254A)
Ref Sequence ENSEMBL: ENSMUSP00000034991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034991]
Predicted Effect probably damaging
Transcript: ENSMUST00000034991
AA Change: T254A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: T254A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,257,757 K445E probably damaging Het
1700061G19Rik C T 17: 56,882,203 Q204* probably null Het
Abca15 A T 7: 120,332,858 probably benign Het
Acvr1c A T 2: 58,280,242 C371* probably null Het
AI464131 T A 4: 41,498,923 I236F possibly damaging Het
Brs3 T C X: 57,047,367 probably benign Het
Car14 C T 3: 95,899,559 V198M possibly damaging Het
Cenpc1 G A 5: 86,022,454 R704* probably null Het
Crybg1 C T 10: 43,992,494 R1396H possibly damaging Het
Cubn A G 2: 13,310,566 S3019P probably damaging Het
Cyp2j9 T C 4: 96,583,428 E222G probably benign Het
Defb50 C A 8: 21,831,171 T59K probably benign Het
Dlg3 T C X: 100,807,242 I587T possibly damaging Het
Doc2a C T 7: 126,851,001 R204C probably damaging Het
Galc T C 12: 98,246,244 probably benign Het
Gm8257 A T 14: 44,655,343 F67I probably damaging Het
Hnrnpul1 A T 7: 25,726,898 N509K probably damaging Het
Iars2 T A 1: 185,296,428 I678F possibly damaging Het
Ifit1 A G 19: 34,648,133 E223G possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrp4 C A 2: 91,473,948 D157E probably damaging Het
Ltk T A 2: 119,755,705 T21S probably benign Het
Lvrn A T 18: 46,864,666 probably benign Het
Maob G A X: 16,712,642 A424V probably damaging Het
Myo1g C A 11: 6,515,856 V410F possibly damaging Het
Naxe T C 3: 88,056,674 H250R probably damaging Het
Nek5 T C 8: 22,111,183 N174S possibly damaging Het
Olfr1158 A G 2: 87,990,944 T278A probably benign Het
Olfr131 G T 17: 38,082,107 N290K probably damaging Het
Olfr606 C T 7: 103,451,795 R153W probably damaging Het
Pex1 A G 5: 3,606,027 T285A probably benign Het
Pfas A G 11: 69,001,260 S141P probably benign Het
Pmm1 T C 15: 81,955,744 T127A probably damaging Het
Proc C A 18: 32,123,820 probably benign Het
Ranbp9 T C 13: 43,480,504 E142G probably damaging Het
Recql4 C A 15: 76,709,912 probably benign Het
Robo4 C T 9: 37,413,040 P955S possibly damaging Het
Ryr3 T A 2: 112,709,073 N3274I probably damaging Het
Serpinb10 T C 1: 107,540,882 probably benign Het
Slc9c1 A T 16: 45,584,448 K848* probably null Het
Slfn5 A G 11: 82,956,981 T231A probably damaging Het
Syncrip T C 9: 88,456,607 probably benign Het
Syt16 A T 12: 74,266,739 T480S probably damaging Het
Taf1c G A 8: 119,601,192 T293M probably benign Het
Tbc1d5 T C 17: 50,813,798 D430G possibly damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Usp17la T C 7: 104,861,315 S376P probably benign Het
Vmn1r19 A G 6: 57,405,194 D244G probably damaging Het
Vmn1r58 A T 7: 5,411,055 F59I probably benign Het
Vmn2r45 A T 7: 8,485,623 M136K probably benign Het
Vmn2r70 T A 7: 85,569,019 R24* probably null Het
Vmn2r75 T A 7: 86,148,593 I671F probably damaging Het
Other mutations in Tbx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Tbx18 APN 9 87705623 missense possibly damaging 0.90
IGL00832:Tbx18 APN 9 87705661 missense probably damaging 1.00
IGL01406:Tbx18 APN 9 87713543 missense probably damaging 0.99
IGL01587:Tbx18 APN 9 87724408 missense probably damaging 0.99
IGL01898:Tbx18 APN 9 87707859 missense possibly damaging 0.92
IGL02624:Tbx18 APN 9 87727406 missense probably damaging 1.00
IGL03057:Tbx18 APN 9 87730829 missense probably damaging 0.99
IGL03252:Tbx18 APN 9 87705580 missense probably damaging 1.00
R0126:Tbx18 UTSW 9 87729653 missense possibly damaging 0.50
R0243:Tbx18 UTSW 9 87715516 splice site probably benign
R0374:Tbx18 UTSW 9 87724355 missense probably damaging 0.97
R0666:Tbx18 UTSW 9 87724409 missense probably benign 0.13
R2141:Tbx18 UTSW 9 87715653 missense probably damaging 0.99
R2183:Tbx18 UTSW 9 87705736 missense probably damaging 0.98
R2233:Tbx18 UTSW 9 87724350 missense probably damaging 1.00
R2234:Tbx18 UTSW 9 87724350 missense probably damaging 1.00
R2235:Tbx18 UTSW 9 87724350 missense probably damaging 1.00
R3835:Tbx18 UTSW 9 87729636 missense probably benign
R4214:Tbx18 UTSW 9 87724465 missense probably damaging 1.00
R4606:Tbx18 UTSW 9 87730769 missense possibly damaging 0.84
R4834:Tbx18 UTSW 9 87727449 missense possibly damaging 0.48
R5112:Tbx18 UTSW 9 87715687 missense probably damaging 1.00
R5887:Tbx18 UTSW 9 87713513 missense possibly damaging 0.58
R6628:Tbx18 UTSW 9 87715535 nonsense probably null
R6659:Tbx18 UTSW 9 87707811 missense probably damaging 1.00
R7001:Tbx18 UTSW 9 87727404 missense probably damaging 1.00
R7057:Tbx18 UTSW 9 87705264 missense possibly damaging 0.94
R7167:Tbx18 UTSW 9 87707830 missense probably damaging 1.00
R7368:Tbx18 UTSW 9 87730697 missense probably benign
R8147:Tbx18 UTSW 9 87724358 missense probably damaging 0.97
Posted On2013-10-07