|Institutional Source||Beutler Lab|
|Gene Name||HAUS augmin-like complex, subunit 6|
|Is this an essential gene?||Possibly essential (E-score: 0.675)|
|Stock #||R7418 (G1)|
|Chromosomal Location||86578855-86612055 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 86594773 bp|
|Amino Acid Change||Serine to Proline at position 386 (S386P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070504 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070607]|
|Predicted Effect||possibly damaging
AA Change: S386P
PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S386P
|Meta Mutation Damage Score||0.3697|
|Coding Region Coverage||
|Validation Efficiency||96% (66/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E2.5 and E7.5 with delayed or incomplete clustering of microtubule-organizing centers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Haus6||
(F):5'- CATTCACATGCACCATGGCA -3'
(R):5'- CTCTGCCCTGTACTGTTGTTTAAAA -3'
(F):5'- TGGCACATGCAAGCTGC -3'
(R):5'- GCCCTGTACTGTTGTTTAAAATTATG -3'