|Institutional Source||Beutler Lab|
|Gene Name||TBC1 domain family, member 32|
|Synonyms||D630037F22Rik, C6orf170, Bromi, b2b2284Clo|
|Is this an essential gene?||Probably essential (E-score: 0.899)|
|Stock #||R7012 (G1)|
|Chromosomal Location||56014293-56228689 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56224724 bp|
|Amino Acid Change||Tyrosine to Asparagine at position 53 (Y53N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097328 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099739]|
|Predicted Effect||probably damaging
AA Change: Y53N
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: Y53N
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbc1d32||
(F):5'- CTGCACAGGTAGGAAGCTAG -3'
(R):5'- GCACTGTATCATGGTTAGTGGC -3'
(F):5'- GAAGACGTACAGAACTGTTATGATC -3'
(R):5'- AGTTTGAGTCCAGCATGAGC -3'