Incidental Mutation 'IGL00471:Tbx18'
ID 6144
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 # IGL00471
Quality Score
Status
Chromosome 9
Chromosomal Location 87584853-87613313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87587676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 480 (D480E)
Ref Sequence ENSEMBL: ENSMUSP00000034991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034991]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034991
AA Change: D480E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034991
Gene: ENSMUSG00000032419
AA Change: D480E

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,657,661 (GRCm39) V2793A probably damaging Het
Agbl2 A G 2: 90,631,389 (GRCm39) Y249C probably damaging Het
Anks1 T C 17: 28,277,390 (GRCm39) S1082P possibly damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
C4b T G 17: 34,953,403 (GRCm39) T1027P probably damaging Het
Clec4d A T 6: 123,251,732 (GRCm39) I205F probably damaging Het
Cpeb2 A T 5: 43,443,174 (GRCm39) Y955F probably damaging Het
Cst13 T A 2: 148,672,224 (GRCm39) M133K probably damaging Het
Dnah10 T C 5: 124,871,405 (GRCm39) L2418P probably damaging Het
Gli3 T C 13: 15,898,354 (GRCm39) probably null Het
Hgfac C A 5: 35,203,870 (GRCm39) H463N probably damaging Het
Hlx A T 1: 184,463,792 (GRCm39) F183I probably damaging Het
Ighv1-5 T G 12: 114,477,093 (GRCm39) I70L probably benign Het
Ltbp2 T C 12: 84,837,838 (GRCm39) T1181A probably damaging Het
Morn1 A C 4: 155,176,785 (GRCm39) K140Q possibly damaging Het
Nek1 A T 8: 61,496,318 (GRCm39) M358L probably benign Het
Pcbd2 C T 13: 55,924,413 (GRCm39) probably benign Het
Pramel7 A T 2: 87,321,429 (GRCm39) L202Q probably damaging Het
Shq1 A G 6: 100,641,444 (GRCm39) S146P probably benign Het
Slc25a21 T C 12: 56,764,922 (GRCm39) probably null Het
Slc26a7 A T 4: 14,548,403 (GRCm39) probably benign Het
Sspo G A 6: 48,475,147 (GRCm39) probably benign Het
Stam2 T C 2: 52,610,947 (GRCm39) D25G probably damaging Het
Tmem26 A T 10: 68,614,511 (GRCm39) I309F possibly damaging Het
Ube2c A G 2: 164,613,213 (GRCm39) T44A probably benign Het
Other mutations in Tbx18
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01587:Tbx18 APN 9 87,606,461 (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 2012-04-20