Incidental Mutation 'IGL00914:Aipl1'
ID 28508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aipl1
Ensembl Gene ENSMUSG00000040554
Gene Name aryl hydrocarbon receptor-interacting protein-like 1
Synonyms A930007I01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL00914
Quality Score
Status
Chromosome 11
Chromosomal Location 71918789-71928335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71922373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
Ref Sequence ENSEMBL: ENSMUSP00000036279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082]
AlphaFold Q924K1
Predicted Effect probably damaging
Transcript: ENSMUST00000048207
AA Change: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: D112G

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 probably damaging
Transcript: ENSMUST00000059082
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: D112G

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T G 10: 20,860,198 (GRCm39) probably null Het
Casz1 G A 4: 149,013,828 (GRCm39) E131K probably damaging Het
Chrna4 A G 2: 180,670,824 (GRCm39) Y311H probably damaging Het
Cyp2d34 G T 15: 82,504,915 (GRCm39) N48K probably damaging Het
Dnajc13 T A 9: 104,090,081 (GRCm39) K696I possibly damaging Het
Dync2i1 A G 12: 116,196,223 (GRCm39) V508A probably damaging Het
Fbxo30 T C 10: 11,166,283 (GRCm39) V335A probably benign Het
Itga5 A G 15: 103,258,799 (GRCm39) probably null Het
Morc2a G A 11: 3,618,844 (GRCm39) probably null Het
Nek8 T C 11: 78,063,901 (GRCm39) I35V possibly damaging Het
Or5b101 A G 19: 13,004,955 (GRCm39) V246A probably damaging Het
Or8c15 A G 9: 38,121,095 (GRCm39) probably null Het
Pcyt2 A G 11: 120,505,151 (GRCm39) probably benign Het
Sec23b T G 2: 144,408,784 (GRCm39) S156R probably damaging Het
Shc3 T A 13: 51,634,263 (GRCm39) probably benign Het
Sntg2 A G 12: 30,307,956 (GRCm39) probably benign Het
Srms T A 2: 180,849,565 (GRCm39) M280L probably benign Het
Other mutations in Aipl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Aipl1 APN 11 71,927,449 (GRCm39) missense probably damaging 1.00
IGL02031:Aipl1 APN 11 71,921,028 (GRCm39) utr 3 prime probably benign
IGL02603:Aipl1 APN 11 71,927,526 (GRCm39) missense possibly damaging 0.82
IGL02677:Aipl1 APN 11 71,920,222 (GRCm39) missense possibly damaging 0.90
R1563:Aipl1 UTSW 11 71,927,538 (GRCm39) missense probably damaging 0.99
R1835:Aipl1 UTSW 11 71,921,325 (GRCm39) missense possibly damaging 0.91
R2041:Aipl1 UTSW 11 71,922,332 (GRCm39) missense possibly damaging 0.87
R2118:Aipl1 UTSW 11 71,920,195 (GRCm39) missense possibly damaging 0.92
R2216:Aipl1 UTSW 11 71,922,272 (GRCm39) missense probably damaging 1.00
R4001:Aipl1 UTSW 11 71,922,428 (GRCm39) missense probably damaging 1.00
R4969:Aipl1 UTSW 11 71,922,256 (GRCm39) missense probably benign 0.22
R5428:Aipl1 UTSW 11 71,921,313 (GRCm39) missense probably benign 0.02
R5933:Aipl1 UTSW 11 71,921,108 (GRCm39) missense probably benign 0.01
R8151:Aipl1 UTSW 11 71,927,584 (GRCm39) missense probably benign 0.44
R8379:Aipl1 UTSW 11 71,920,126 (GRCm39) missense probably benign 0.05
R8406:Aipl1 UTSW 11 71,922,332 (GRCm39) missense possibly damaging 0.87
R8998:Aipl1 UTSW 11 71,921,083 (GRCm39) missense possibly damaging 0.93
R8999:Aipl1 UTSW 11 71,921,083 (GRCm39) missense possibly damaging 0.93
R9340:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9346:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9422:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9424:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9462:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9576:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9577:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9578:Aipl1 UTSW 11 71,928,253 (GRCm39) missense probably damaging 1.00
R9593:Aipl1 UTSW 11 71,921,161 (GRCm39) missense probably benign
X0018:Aipl1 UTSW 11 71,921,367 (GRCm39) missense probably benign 0.00
Z1176:Aipl1 UTSW 11 71,921,359 (GRCm39) missense possibly damaging 0.69
Posted On 2013-04-17