Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Aipl1'

241169

Institutional Source

Beutler Lab

Gene Symbol

Aipl1

Ensembl Gene

ENSMUSG00000040554

Gene Name

aryl hydrocarbon receptor-interacting protein-like 1

Synonyms

A930007I01Rik

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

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

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71918789-71928335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71922272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 146 (P146T)

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: P146T

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: P146T

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: P146T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: P146T

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arnt2	T	A	7: 83,924,559 (GRCm39)	T423S	probably damaging	Het
Bend5	A	G	4: 111,305,787 (GRCm39)	N277S	probably null	Het
Cd22	G	T	7: 30,566,471 (GRCm39)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,679 (GRCm39)	R115C	probably damaging	Het
Cep85	T	C	4: 133,858,741 (GRCm39)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,230,003 (GRCm39)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,020,742 (GRCm39)	V371A	probably benign	Het
Csmd1	T	A	8: 17,077,355 (GRCm39)		probably null	Het
Cyp1a1	T	A	9: 57,609,352 (GRCm39)		probably null	Het
Dennd1c	C	T	17: 57,381,492 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 50,026,990 (GRCm39)	V2033I	probably benign	Het
Dtna	A	G	18: 23,702,622 (GRCm39)	H51R	probably damaging	Het
Dysf	G	A	6: 84,184,227 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,731,720 (GRCm39)	V945E	probably benign	Het
Gpbar1	C	G	1: 74,318,053 (GRCm39)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,479,516 (GRCm39)	D212E	probably damaging	Het
Itga1	A	T	13: 115,133,565 (GRCm39)	D448E	probably benign	Het
Itga2b	T	A	11: 102,358,692 (GRCm39)	N75I	probably benign	Het
Klra7	T	C	6: 130,205,549 (GRCm39)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,273,490 (GRCm39)	R2349C	probably benign	Het
Masp1	T	C	16: 23,310,805 (GRCm39)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,161,924 (GRCm39)		probably null	Het
Myh15	C	G	16: 48,986,201 (GRCm39)	S1557*	probably null	Het
Myo3a	A	C	2: 22,467,783 (GRCm39)	T346P	probably benign	Het
Nim1k	A	G	13: 120,175,751 (GRCm39)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,802,077 (GRCm39)	R507*	probably null	Het
Or13n4	T	A	7: 106,423,205 (GRCm39)	H176L	probably damaging	Het
Or5e1	C	T	7: 108,354,819 (GRCm39)	T252M	probably damaging	Het
Parp14	T	C	16: 35,677,575 (GRCm39)	I798V	probably benign	Het
Pcnx2	C	T	8: 126,614,816 (GRCm39)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,437,291 (GRCm39)	H3522L	probably damaging	Het
Pram1	C	T	17: 33,860,258 (GRCm39)	A275V	probably benign	Het
Pramel18	T	A	4: 101,767,257 (GRCm39)	W169R	probably damaging	Het
Prkag1	A	T	15: 98,713,827 (GRCm39)	M1K	probably null	Het
Prss52	T	C	14: 64,351,042 (GRCm39)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,431,125 (GRCm39)	V284D	probably damaging	Het
Reln	T	C	5: 22,253,003 (GRCm39)	D648G	probably benign	Het
Rnf112	A	G	11: 61,343,105 (GRCm39)	L190P	probably damaging	Het
Scn5a	G	T	9: 119,314,678 (GRCm39)	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,342,151 (GRCm39)	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,663,798 (GRCm39)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,196,679 (GRCm39)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,655,730 (GRCm39)	Q32R	possibly damaging	Het
Tars1	A	G	15: 11,389,794 (GRCm39)	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,267 (GRCm39)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,066,301 (GRCm39)	Y222C	probably benign	Het
Trim40	T	C	17: 37,199,875 (GRCm39)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,313,226 (GRCm39)	I150V	probably benign	Het
Ube2u	T	C	4: 100,389,365 (GRCm39)	V109A	probably benign	Het
Usp54	A	T	14: 20,611,908 (GRCm39)	D969E	probably benign	Het
Vil1	G	T	1: 74,464,838 (GRCm39)	R495L	probably benign	Het
Wfs1	T	A	5: 37,124,564 (GRCm39)	K700*	probably null	Het
Zcchc8	A	G	5: 123,845,466 (GRCm39)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,673,697 (GRCm39)	Q150H	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
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'- TCCAAATGAGCCTTTTCCTAGTG -3'
(R):5'- CTCTGACAGCTGAGACATCC -3'

Sequencing Primer
(F):5'- AATGAGCCTTTTCCTAGTGGTGGG -3'
(R):5'- GCTGAGACATCCCCCTCCATATC -3'

Posted On

2014-10-15