Mutagenetix > Incidental Mutation

Incidental Mutation 'R5428:Aipl1'

427026

Institutional Source

Beutler Lab

Gene Symbol

Aipl1

Ensembl Gene

ENSMUSG00000040554

Gene Name

aryl hydrocarbon receptor-interacting protein-like 1

Synonyms

A930007I01Rik

MMRRC Submission

042994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71918789-71928335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71921313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 194 (Y194F)

Ref Sequence

ENSEMBL: ENSMUSP00000036279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082]

AlphaFold

Q924K1

Predicted Effect

probably benign
Transcript: ENSMUST00000048207
AA Change: Y194F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: Y194F

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 benign
Transcript: ENSMUST00000059082

SMART Domains

Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554

Domain	Start	End	E-Value	Type
Pfam:FKBP_C	25	154	1e-8	PFAM

Meta Mutation Damage Score

0.0995

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,635,918 (GRCm39)	V324L	probably benign	Het
Abl2	T	C	1: 156,469,681 (GRCm39)	C982R	probably damaging	Het
Adgrl4	G	A	3: 151,248,323 (GRCm39)	C665Y	probably damaging	Het
Adra1d	A	G	2: 131,403,323 (GRCm39)	S256P	probably damaging	Het
Arfgef1	C	A	1: 10,231,060 (GRCm39)	D1150Y	probably damaging	Het
Arl14epl	A	T	18: 47,059,387 (GRCm39)	M1L	possibly damaging	Het
Colgalt1	G	T	8: 72,075,420 (GRCm39)	R442L	probably damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dach1	A	G	14: 98,406,705 (GRCm39)	V14A	unknown	Het
Defa30	A	G	8: 21,625,419 (GRCm39)	D61G	probably benign	Het
Dnaja2	A	T	8: 86,266,804 (GRCm39)	C308S	probably benign	Het
Emc4	A	G	2: 112,197,700 (GRCm39)		probably benign	Het
Foxp1	A	G	6: 98,993,592 (GRCm39)	V104A	probably damaging	Het
Fry	T	G	5: 150,328,824 (GRCm39)	L1319R	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja10	T	A	4: 32,601,169 (GRCm39)	H405L	probably benign	Het
Gm27047	A	G	6: 130,607,527 (GRCm39)		noncoding transcript	Het
Grm1	T	A	10: 10,595,307 (GRCm39)	T774S	probably damaging	Het
Gtse1	A	C	15: 85,746,340 (GRCm39)	D52A	probably benign	Het
Kctd17	T	A	15: 78,312,982 (GRCm39)	F42Y	probably damaging	Het
Kndc1	A	G	7: 139,488,878 (GRCm39)	K178E	probably damaging	Het
Lrrc74b	T	C	16: 17,376,125 (GRCm39)	E175G	probably damaging	Het
Macf1	A	G	4: 123,278,661 (GRCm39)	I5927T	probably damaging	Het
Maml2	A	G	9: 13,617,191 (GRCm39)	N935S	probably benign	Het
Man2a1	A	G	17: 65,019,295 (GRCm39)	I720V	probably benign	Het
Map3k5	C	T	10: 19,899,399 (GRCm39)	H219Y	possibly damaging	Het
Map4k5	T	C	12: 69,884,787 (GRCm39)	T314A	possibly damaging	Het
Mast3	A	G	8: 71,237,377 (GRCm39)	V615A	possibly damaging	Het
Mcmbp	C	T	7: 128,306,248 (GRCm39)	V457I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nacc1	T	C	8: 85,402,783 (GRCm39)	I337V	probably damaging	Het
Nipbl	T	C	15: 8,359,780 (GRCm39)	D1475G	probably benign	Het
Orc1	T	A	4: 108,457,137 (GRCm39)	D392E	probably benign	Het
Pappa2	T	C	1: 158,642,355 (GRCm39)	T1297A	possibly damaging	Het
Plag1	C	T	4: 3,905,538 (GRCm39)	V51I	possibly damaging	Het
Ppp1r12a	G	A	10: 108,089,208 (GRCm39)	E616K	possibly damaging	Het
Ptgs1	A	G	2: 36,135,280 (GRCm39)	M415V	probably benign	Het
Ralgapa2	C	T	2: 146,176,414 (GRCm39)	E1683K	probably damaging	Het
Rap2a	T	A	14: 120,716,406 (GRCm39)	F90I	probably benign	Het
Rcvrn	A	G	11: 67,590,875 (GRCm39)	E153G	possibly damaging	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skil	T	A	3: 31,151,647 (GRCm39)	D56E	probably benign	Het
Slc22a18	G	T	7: 143,033,082 (GRCm39)	G57W	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Synj1	T	C	16: 90,788,406 (GRCm39)	D154G	probably damaging	Het
Tbc1d24	A	T	17: 24,400,746 (GRCm39)	N156K	probably benign	Het
Tcea1	A	T	1: 4,950,568 (GRCm39)		probably benign	Het
Tmc3	T	C	7: 83,261,755 (GRCm39)	V611A	probably damaging	Het
Tnrc6c	A	G	11: 117,591,588 (GRCm39)	M1V	probably null	Het
Tomm5	A	T	4: 45,106,689 (GRCm39)		probably benign	Het
Ttc6	A	G	12: 57,736,620 (GRCm39)	K1207R	probably null	Het
Ttn	T	C	2: 76,591,448 (GRCm39)	T12747A	possibly damaging	Het
Ttn	A	T	2: 76,715,480 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,569,175 (GRCm39)	D1147G	probably benign	Het
Vmn1r53	T	C	6: 90,200,395 (GRCm39)	I310V	probably benign	Het
Washc4	A	C	10: 83,410,386 (GRCm39)	D658A	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Ylpm1	T	C	12: 85,077,003 (GRCm39)	F1243L	probably benign	Het
Zbtb24	T	C	10: 41,340,784 (GRCm39)	S605P	probably benign	Het
Zfy1	T	G	Y: 726,205 (GRCm39)	H520P	possibly damaging	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
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
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'- CTGGCAGTAGTTGAGGATCAG -3'
(R):5'- CTTTCAGAAGGACACTGGGG -3'

Sequencing Primer
(F):5'- ATCAGGGTGTTGATCATCTTCTCCAG -3'
(R):5'- GCCCCAAATGAGTACCAG -3'

Posted On

2016-09-01