Incidental Mutation 'IGL01898:Tbx18'
ID179465
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 #IGL01898
Quality Score
Status
Chromosome9
Chromosomal Location87702800-87731260 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87707859 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 342 (M342K)
Ref Sequence ENSEMBL: ENSMUSP00000034991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034991]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034991
AA Change: M342K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: M342K

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A T 2: 154,552,713 D195V probably damaging Het
Aqp11 A G 7: 97,726,663 W260R probably benign Het
Atp8a2 T C 14: 60,023,513 T390A probably damaging Het
Atp8b4 T C 2: 126,389,361 N431S probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc110 T G 8: 45,942,124 S351A possibly damaging Het
Cntnap4 T C 8: 112,856,307 F1006L possibly damaging Het
Ddr2 A G 1: 169,998,156 F292L possibly damaging Het
F830104G03Rik G A 3: 56,890,216 Q97* probably null Het
Fam171a2 T C 11: 102,439,756 T267A possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Igkv5-45 T A 6: 69,775,892 K69* probably null Het
Mios T C 6: 8,222,668 I534T probably benign Het
Nus1 A G 10: 52,430,067 D185G probably benign Het
Proc A G 18: 32,133,145 probably null Het
Psma3 T A 12: 70,984,674 H36Q probably benign Het
Sh3rf3 G T 10: 59,049,530 A412S probably damaging Het
Smgc A T 15: 91,844,524 probably null Het
Spta1 T A 1: 174,213,862 S1297R probably benign Het
Steap3 T C 1: 120,241,574 D293G probably benign Het
Trip11 T C 12: 101,885,676 M425V probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript 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
IGL01287:Tbx18 APN 9 87724331 missense probably damaging 0.98
IGL01406:Tbx18 APN 9 87713543 missense probably damaging 0.99
IGL01587:Tbx18 APN 9 87724408 missense probably damaging 0.99
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 On2014-05-07