|Institutional Source||Beutler Lab|
|Gene Name||Abelson helper integration site 1|
|Synonyms||1700015F03Rik, Jouberin, D10Bwg0629e, Ahi-1|
|Is this an essential gene?||Probably essential (E-score: 0.893)|
|Stock #||R8248 (G1)|
|Chromosomal Location||20952547-21080429 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 20972092 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 466 (D466E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101164 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105525]|
|Predicted Effect||probably benign
AA Change: D466E
PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: D466E
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ahi1||
(F):5'- AGGAAACCACTTCTGCACTG -3'
(R):5'- TCTGACTAACTTACTTGGGACTTC -3'
(F):5'- CTGCACTGAAAAGAGAATTTCCTG -3'
(R):5'- GGGACTTCTTAAATTAAGACTTCGAG -3'