|Institutional Source||Beutler Lab|
|Gene Name||aryl hydrocarbon receptor-interacting protein-like 1|
|Is this an essential gene?||Probably non essential (E-score: 0.107)|
|Stock #||R2118 (G1)|
|Chromosomal Location||72027963-72037509 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 72029369 bp|
|Amino Acid Change||Leucine to Glutamine at position 291 (L291Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036279 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082]|
|Predicted Effect||possibly damaging
AA Change: L291Q
PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L291Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3587|
|Coding Region Coverage||
|Validation Efficiency||100% (90/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display complete retinal degeneration and a lack of electroretinographic responses. Homozygous hypomorphic mutants display less severe retinal degeneration and impaired electroretinographic responses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aipl1||
(F):5'- CTGGTAGCCAAGAACACCTC -3'
(R):5'- TGGTCACAGGATTTGGGAAG -3'
(F):5'- TACCCTGCAGCAAGAGGAGC -3'
(R):5'- TCACAGGATTTGGGAAGAAACG -3'