Incidental Mutation 'IGL03252:Tbx18'
ID 414560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx18
Ensembl Gene ENSMUSG00000032419
Gene Name T-box18
Synonyms 2810404D13Rik, 2810012F10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03252
Quality Score
Status
Chromosome 9
Chromosomal Location 87702800-87731260 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87705580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 495 (I495F)
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: I495F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: I495F

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt2 A G 11: 95,873,931 S237P probably damaging Het
Btla A G 16: 45,239,146 H71R possibly damaging Het
Calml3 T A 13: 3,803,759 K149* probably null Het
Cyp2c29 T C 19: 39,287,175 W20R probably damaging Het
Dnah8 G A 17: 30,673,920 probably null Het
Elf3 T C 1: 135,254,953 T345A probably damaging Het
Erc2 T C 14: 28,475,649 probably benign Het
Gm10375 C T 14: 43,604,832 C147Y probably damaging Het
Gsdma2 A G 11: 98,649,090 R13G probably damaging Het
Hist1h3a G A 13: 23,761,960 probably null Het
Ighg3 G T 12: 113,360,564 P101H unknown Het
L3mbtl3 A G 10: 26,331,812 probably benign Het
Micall2 T C 5: 139,716,726 N254S probably benign Het
Myh4 A T 11: 67,252,216 D990V probably damaging Het
Ncapd3 T A 9: 27,051,449 F394I probably damaging Het
Nek1 C T 8: 61,072,330 Q601* probably null Het
Olfr1281 T A 2: 111,328,780 Y120* probably null Het
Olfr668 C T 7: 104,925,387 V126I probably benign Het
Plcb1 C T 2: 135,370,428 P980S probably benign Het
Puf60 T C 15: 76,071,850 D224G probably damaging Het
Pus7l T A 15: 94,525,810 H586L probably benign Het
Rims2 T C 15: 39,452,352 S585P probably benign Het
Rxfp1 T A 3: 79,667,683 D207V probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sptlc2 A G 12: 87,355,657 I165T probably benign Het
Sult2a3 A G 7: 14,067,634 V260A probably damaging Het
Tas2r125 A G 6: 132,910,590 probably null Het
Top2b A T 14: 16,393,163 N274I possibly damaging Het
Vmn2r53 T G 7: 12,606,391 T52P 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
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
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
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
R8993:Tbx18 UTSW 9 87730717 missense probably benign 0.00
R9263:Tbx18 UTSW 9 87729468 missense probably damaging 0.97
R9291:Tbx18 UTSW 9 87729482 missense probably damaging 1.00
R9396:Tbx18 UTSW 9 87727379 missense probably damaging 1.00
R9420:Tbx18 UTSW 9 87730622 missense probably benign
Posted On 2016-08-02