|Institutional Source||Beutler Lab|
|Gene Name||transmembrane anterior posterior transformation 1|
|Is this an essential gene?||Possibly essential (E-score: 0.676)|
|Stock #||R0624 (G1)|
|Chromosomal Location||44175154-44226626 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 44177106 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 514 (L514F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062110 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055128] [ENSMUST00000199374]|
|Predicted Effect||possibly damaging
AA Change: L514F
PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: L514F
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.128|
|Coding Region Coverage||
|Validation Efficiency||98% (88/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for an ENU mutation causing a truncation exhibit vertebral trasnformations and defects in rib attachment and the xiphoid process. Mice homozygous for a transgenic gene disruption exhibit cleft palate and possible anemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tapt1||
(F):5'- TCACAAACTCAGTCAATCCGGTTCC -3'
(R):5'- GAGGCAGGCTCTTTCCAGAATCAG -3'
(F):5'- GTTCCCGCAAATTGTGAACC -3'
(R):5'- GGATAAACAGTGTGTGACTAGCTTC -3'