Incidental Mutation 'IGL02603:Aipl1'
ID300144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aipl1
Ensembl Gene ENSMUSG00000040554
Gene Namearyl hydrocarbon receptor-interacting protein-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL02603
Quality Score
Status
Chromosome11
Chromosomal Location72027963-72037509 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 72036700 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 63 (I63T)
Ref Sequence ENSEMBL: ENSMUSP00000061957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082]
Predicted Effect probably benign
Transcript: ENSMUST00000048207
AA Change: I63T

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: I63T

DomainStartEndE-ValueType
Pfam:FKBP_C 26 154 5.2e-8 PFAM
Pfam:TPR_2 178 210 4.6e-6 PFAM
low complexity region 240 251 N/A INTRINSIC
Pfam:TPR_2 264 296 5.5e-6 PFAM
low complexity region 302 312 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000059082
AA Change: I63T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: I63T

DomainStartEndE-ValueType
Pfam:FKBP_C 25 154 1e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,488,952 S3457P possibly damaging Het
Atp7b C T 8: 21,994,776 V1307M possibly damaging Het
Cdc20b T C 13: 113,078,755 S286P possibly damaging Het
Eif2ak4 G A 2: 118,450,326 R946H probably damaging Het
Fam98c A G 7: 29,154,448 S232P probably damaging Het
Glt1d1 G T 5: 127,632,345 R21L probably damaging Het
Gm5286 A T 3: 94,198,437 T21S possibly damaging Het
Gm5422 A G 10: 31,249,440 noncoding transcript Het
Haao T A 17: 83,835,541 D125V probably benign Het
Hipk1 A G 3: 103,750,272 V832A probably damaging Het
Lrrtm4 C A 6: 80,022,984 Q460K possibly damaging Het
Lyar A G 5: 38,234,061 N368S probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Lztr1 C A 16: 17,509,686 N84K possibly damaging Het
Ndufa8 C A 2: 36,044,458 C36F probably damaging Het
Olfr136 T A 17: 38,335,513 S119T probably damaging Het
Olfr739 T A 14: 50,425,200 V227E probably damaging Het
Psg19 A G 7: 18,792,768 S146P probably benign Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Other mutations in Aipl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Aipl1 APN 11 72031547 missense probably damaging 1.00
IGL01713:Aipl1 APN 11 72036623 missense probably damaging 1.00
IGL02031:Aipl1 APN 11 72030202 utr 3 prime probably benign
IGL02677:Aipl1 APN 11 72029396 missense possibly damaging 0.90
R1563:Aipl1 UTSW 11 72036712 missense probably damaging 0.99
R1835:Aipl1 UTSW 11 72030499 missense possibly damaging 0.91
R2041:Aipl1 UTSW 11 72031506 missense possibly damaging 0.87
R2118:Aipl1 UTSW 11 72029369 missense possibly damaging 0.92
R2216:Aipl1 UTSW 11 72031446 missense probably damaging 1.00
R4001:Aipl1 UTSW 11 72031602 missense probably damaging 1.00
R4969:Aipl1 UTSW 11 72031430 missense probably benign 0.22
R5428:Aipl1 UTSW 11 72030487 missense probably benign 0.02
R5933:Aipl1 UTSW 11 72030282 missense probably benign 0.01
X0018:Aipl1 UTSW 11 72030541 missense probably benign 0.00
Posted On2015-04-16