|Institutional Source||Beutler Lab|
|Gene Name||abnormal spindle microtubule assembly|
|Synonyms||Aspm, Sha1, MCPH5, D330028K02Rik, Calmbp1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6943 (G1)|
|Chromosomal Location||139454772-139494091 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 139480542 bp|
|Amino Acid Change||Leucine to Proline at position 2389 (L2389P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059159 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053364] [ENSMUST00000200083]|
|Predicted Effect||probably damaging
AA Change: L2389P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L2389P
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for protein-truncating gene trap mutations of this gene exhibit decreased body weight, microcephaly, a severe reduction in brain, testis and ovary weight, oligozoospermia and asthenospermia, and reduced fertility in both sexes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aspm||
(F):5'- GGTACCAGCATTTGAAGCGG -3'
(R):5'- CTGTGCATTCTAAAAGTAGCCTGG -3'
(F):5'- GGCCTCAGTTGTGATCCAAGTAC -3'
(R):5'- TGCATTCTAAAAGTAGCCTGGATGAG -3'