Incidental Mutation 'R4001:Aipl1'
| ID |
312484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aipl1
|
| Ensembl Gene |
ENSMUSG00000040554 |
| Gene Name |
aryl hydrocarbon receptor-interacting protein-like 1 |
| Synonyms |
A930007I01Rik |
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
71918789-71928335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71922428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 94
(T94S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048207]
[ENSMUST00000059082]
|
| AlphaFold |
Q924K1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048207
AA Change: T94S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: T94S
| Domain | Start | End | E-Value | Type |
|---|
|
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: T94S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: T94S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
25 |
154 |
1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.1613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
probably benign |
Het |
|
| Other mutations in Aipl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- CTGCAACAGTTCAATCAGGAAGAC -3'
(R):5'- CCACAAGGCTCTAACGAGTC -3'
Sequencing Primer
(F):5'- TTCAATCAGGAAGACAAGAGGCTG -3'
(R):5'- AGACAGGCCTGAATCTTGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation