Incidental Mutation 'IGL01713:Aipl1'
ID 104862
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 # IGL01713
Quality Score
Status
Chromosome 11
Chromosomal Location 71918789-71928335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71927449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 89 (C89R)
Ref Sequence ENSEMBL: ENSMUSP00000061957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082]
AlphaFold Q924K1
Predicted Effect probably damaging
Transcript: ENSMUST00000048207
AA Change: C89R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: C89R

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: C89R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: C89R

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,740,772 (GRCm39) I148T possibly damaging Het
Apaf1 G A 10: 90,897,694 (GRCm39) probably benign Het
Atp7b A G 8: 22,518,589 (GRCm39) V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 (GRCm39) probably null Het
Crebbp T C 16: 3,946,512 (GRCm39) I418V possibly damaging Het
Cyp26b1 G A 6: 84,551,283 (GRCm39) P427L probably benign Het
Dnal4 A G 15: 79,646,606 (GRCm39) Y92H probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Epha3 G A 16: 63,372,925 (GRCm39) T926I probably benign Het
Fgg T C 3: 82,915,723 (GRCm39) S55P probably benign Het
Gosr1 A T 11: 76,645,582 (GRCm39) M66K probably benign Het
Igkv12-89 G T 6: 68,812,296 (GRCm39) probably benign Het
Map3k12 T C 15: 102,410,756 (GRCm39) E451G probably damaging Het
Phkg1 T C 5: 129,895,714 (GRCm39) E179G probably benign Het
Pnpla1 A T 17: 29,100,579 (GRCm39) D482V possibly damaging Het
Pramel1 T C 4: 143,123,652 (GRCm39) V109A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Pus7l T C 15: 94,429,493 (GRCm39) T442A probably benign Het
Sall3 A G 18: 81,013,062 (GRCm39) S1125P probably damaging Het
Scyl2 A C 10: 89,490,087 (GRCm39) I150S probably damaging Het
Sf1 T A 19: 6,424,319 (GRCm39) probably null Het
Slco1a6 A G 6: 142,032,293 (GRCm39) S611P possibly damaging Het
Vmn2r103 G T 17: 20,014,330 (GRCm39) C374F probably damaging Het
Xntrpc T C 7: 101,733,059 (GRCm39) probably benign Het
Other mutations in Aipl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Aipl1 APN 11 71,922,373 (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 2014-01-21