Incidental Mutation 'R2118:Aipl1'
ID 231218
Institutional Source Beutler Lab
Gene Symbol Aipl1
Ensembl Gene ENSMUSG00000040554
Gene Name aryl hydrocarbon receptor-interacting protein-like 1
Synonyms A930007I01Rik
MMRRC Submission 040122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R2118 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 71918789-71928335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71920195 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q924K1
Predicted Effect possibly damaging
Transcript: ENSMUST00000048207
AA Change: L291Q

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: L291Q

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 benign
Transcript: ENSMUST00000059082
SMART Domains Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554

DomainStartEndE-ValueType
Pfam:FKBP_C 25 154 1e-8 PFAM
Meta Mutation Damage Score 0.3587 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (90/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T C 11: 83,331,190 (GRCm39) S31P possibly damaging Het
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Abi3bp T C 16: 56,298,227 (GRCm39) probably benign Het
Adamts8 T C 9: 30,854,359 (GRCm39) F76S probably damaging Het
Agpat3 T C 10: 78,113,918 (GRCm39) R257G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
AI593442 T C 9: 52,588,993 (GRCm39) T195A probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Arg1 T C 10: 24,796,621 (GRCm39) N69D possibly damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Asb4 A T 6: 5,390,687 (GRCm39) T27S probably benign Het
Ash1l C G 3: 88,892,602 (GRCm39) Q1494E possibly damaging Het
Car12 T C 9: 66,621,174 (GRCm39) V15A probably benign Het
Cdc20b A G 13: 113,215,232 (GRCm39) I267V probably benign Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cenpe T A 3: 134,952,645 (GRCm39) M1445K possibly damaging Het
Cfap43 T C 19: 47,758,877 (GRCm39) E932G probably damaging Het
Cfhr1 G C 1: 139,478,642 (GRCm39) Q243E probably benign Het
Cnih2 C A 19: 5,148,276 (GRCm39) A6S possibly damaging Het
Cntnap1 G T 11: 101,079,483 (GRCm39) M1240I probably benign Het
Cntrl T C 2: 35,051,977 (GRCm39) S1050P probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dbx2 A C 15: 95,522,681 (GRCm39) L342R probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnajb2 T C 1: 75,214,121 (GRCm39) W30R probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancd2 A G 6: 113,537,035 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,692 (GRCm39) probably benign Het
Gimap4 G T 6: 48,667,905 (GRCm39) C92F probably benign Het
Gm10033 A C 8: 69,824,942 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,199 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,680 (GRCm39) V186A probably damaging Het
Gnptab T C 10: 88,272,260 (GRCm39) S967P probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints12 T C 3: 132,814,921 (GRCm39) V376A probably damaging Het
Kalrn C T 16: 34,152,600 (GRCm39) S309N possibly damaging Het
Kel T A 6: 41,666,234 (GRCm39) I471L probably benign Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Ksr1 A T 11: 78,936,019 (GRCm39) M77K probably benign Het
Leo1 T A 9: 75,353,094 (GRCm39) N212K probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mast4 A G 13: 102,890,713 (GRCm39) V855A probably damaging Het
Mdga2 T A 12: 66,915,526 (GRCm39) E43V probably damaging Het
Mmaa A T 8: 79,994,588 (GRCm39) L406* probably null Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Nlrp12 A T 7: 3,290,079 (GRCm39) N144K probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or4f61 C A 2: 111,922,675 (GRCm39) V124L probably benign Het
Or5h18 A G 16: 58,848,178 (GRCm39) F31L possibly damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pappa2 T C 1: 158,684,836 (GRCm39) T768A probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Ppp1r13l A G 7: 19,105,346 (GRCm39) M373V possibly damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg16 C A 7: 16,824,548 (GRCm39) H111N probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Rai14 A G 15: 10,575,252 (GRCm39) F569L probably benign Het
Rbpms2 T A 9: 65,558,229 (GRCm39) D116E probably damaging Het
Rgs20 A G 1: 4,987,113 (GRCm39) probably benign Het
Rnf114 T C 2: 167,352,803 (GRCm39) L101P probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc2a13 A G 15: 91,400,679 (GRCm39) V181A probably damaging Het
Spag17 A G 3: 99,956,556 (GRCm39) E884G possibly damaging Het
Sycn T C 7: 28,240,713 (GRCm39) S127P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r117 T A 6: 132,780,129 (GRCm39) I89K probably damaging Het
Tep1 C A 14: 51,093,029 (GRCm39) probably null Het
Tex14 T C 11: 87,410,569 (GRCm39) probably benign Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Vmn1r200 C T 13: 22,579,353 (GRCm39) T43I probably damaging Het
Wars2 T C 3: 99,123,883 (GRCm39) V248A probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp729a A T 13: 67,769,613 (GRCm39) probably null Het
Zfp759 C A 13: 67,287,578 (GRCm39) probably benign Het
Other mutations in Aipl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Aipl1 APN 11 71,922,373 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGGTAGCCAAGAACACCTC -3'
(R):5'- TGGTCACAGGATTTGGGAAG -3'

Sequencing Primer
(F):5'- TACCCTGCAGCAAGAGGAGC -3'
(R):5'- TCACAGGATTTGGGAAGAAACG -3'
Posted On 2014-09-18