|Institutional Source||Beutler Lab|
|Gene Name||hook microtubule tethering protein 1|
|Synonyms||azh, A930033L17Rik, abnormal spermatozoon head shape|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4453001 (G1)|
|Chromosomal Location||95967240-96025413 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 96014852 bp|
|Amino Acid Change||Aspartic acid to Valine at position 526 (D526V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030306 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030306]|
|Predicted Effect||probably damaging
AA Change: D526V
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D526V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice have abnormal ladle shaped sperm with up to 40% lacking a flagella. Nonetheless, most males breed, although litter size is reduced. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hook1||
(F):5'- GTCACAGATAATCACCTTGTACTTC -3'
(R):5'- TGAGCAGCACAGATAGAAATCATC -3'
(F):5'- AATCACCTTGTACTTCTTTCTGCTAG -3'
(R):5'- GCAAACCAATGCATCTGCTATG -3'