|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7057 (G1)|
|Chromosomal Location||87702800-87731260 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 87705264 bp|
|Amino Acid Change||Serine to Isoleucine at position 600 (S600I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034991]|
|Predicted Effect||possibly damaging
AA Change: S600I
PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S600I
|Coding Region Coverage||
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||
|Other mutations in Tbx18||
(F):5'- CGCCAATACTCTGTGGAACTG -3'
(R):5'- ACAGTCCCTGTGCCTTGTATG -3'
(F):5'- CGCCAATACTCTGTGGAACTGAATAG -3'
(R):5'- GTCCCTGTGCCTTGTATGGATATAAC -3'