|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protein 231|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2306 (G1)|
|Chromosomal Location||111912011-111933881 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 111918871 bp|
|Amino Acid Change||Valine to Aspartic acid at position 132 (V132D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034429 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034429] [ENSMUST00000211866]|
|Predicted Effect||probably damaging
AA Change: V132D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V132D
|Predicted Effect||probably benign
AA Change: S159T
PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|Meta Mutation Damage Score||0.9355|
|Coding Region Coverage||
|Validation Efficiency||100% (34/34)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmem231||
(F):5'- AAGAGCCATCTGCAGTGTG -3'
(R):5'- TGAACTCAGATCTGCTTGTCTCTG -3'
(F):5'- CTCAGAGGTTAAGAGCACTGACTG -3'
(R):5'- TGCCTCCCAAATGCTGG -3'