Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Aipl1'

722375

Institutional Source

Beutler Lab

Gene Symbol

Aipl1

Ensembl Gene

ENSMUSG00000040554

Gene Name

aryl hydrocarbon receptor-interacting protein-like 1

Synonyms

A930007I01Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71918789-71928335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71928253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 11 (G11D)

Ref Sequence

ENSEMBL: ENSMUSP00000036279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048207] [ENSMUST00000059082] [ENSMUST00000122871]

AlphaFold

Q924K1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048207
AA Change: G11D

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

SMART Domains

Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: G11D

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: G11D

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

SMART Domains

Protein: ENSMUSP00000061957
Gene: ENSMUSG00000040554
AA Change: G11D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122871

SMART Domains

Protein: ENSMUSP00000123099
Gene: ENSMUSG00000020808

Domain	Start	End	E-Value	Type
Pfam:DUF1466	1	77	1.3e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,608,663 (GRCm39)	A128S	probably benign	Het
Abca14	T	C	7: 119,810,768 (GRCm39)	Y116H	probably benign	Het
Ankar	C	A	1: 72,721,067 (GRCm39)	V464L	probably benign	Het
Arap2	A	T	5: 62,769,060 (GRCm39)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,004,996 (GRCm39)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,515,040 (GRCm39)	T243A	probably benign	Het
Baz2b	T	C	2: 59,809,031 (GRCm39)	T73A	probably benign	Het
Bnip5	A	T	17: 29,128,382 (GRCm39)	I177K	probably benign	Het
Brms1l	A	G	12: 55,906,876 (GRCm39)	S148G	probably damaging	Het
Btnl1	A	G	17: 34,603,335 (GRCm39)	D332G	probably benign	Het
Card9	T	A	2: 26,242,344 (GRCm39)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,340,472 (GRCm39)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,146,895 (GRCm39)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm39)	E487G	unknown	Het
Col22a1	T	C	15: 71,837,595 (GRCm39)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,018,196 (GRCm39)	V180A		Het
Dmxl2	A	G	9: 54,323,664 (GRCm39)	V1066A	unknown	Het
Dnah9	C	T	11: 65,867,347 (GRCm39)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,376,439 (GRCm39)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 140,907,743 (GRCm39)	Y134*	probably null	Het
Fmn1	C	T	2: 113,194,470 (GRCm39)	P57S	unknown	Het
Gm6309	T	C	5: 146,105,700 (GRCm39)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,463,605 (GRCm39)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,696,906 (GRCm39)	I422F	probably damaging	Het
Itfg1	A	G	8: 86,502,798 (GRCm39)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,399,138 (GRCm39)	V433A	probably benign	Het
Kif3a	T	C	11: 53,475,231 (GRCm39)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,467,490 (GRCm39)	D186G	probably damaging	Het
Lmntd2	T	C	7: 140,790,990 (GRCm39)	T448A	probably benign	Het
Magi2	C	T	5: 20,814,282 (GRCm39)	A898V	probably damaging	Het
Mri1	A	G	8: 84,982,929 (GRCm39)	V164A	probably damaging	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,237,632 (GRCm39)	R208*	probably null	Het
Or1j1	C	A	2: 36,702,567 (GRCm39)	C179F	probably damaging	Het
Or8g28	A	G	9: 39,169,737 (GRCm39)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,155,126 (GRCm39)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,528,563 (GRCm39)	P169A	probably benign	Het
Pramel52-ps	A	T	5: 94,531,805 (GRCm39)	R230*	probably null	Het
Prss36	T	C	7: 127,533,673 (GRCm39)	I556V	probably benign	Het
Psg23	A	T	7: 18,346,067 (GRCm39)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,676,675 (GRCm39)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,202 (GRCm39)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,658,629 (GRCm39)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,357,612 (GRCm39)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,182,055 (GRCm39)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,473,699 (GRCm39)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,611,512 (GRCm39)		probably null	Het
Tm9sf4	T	C	2: 153,037,294 (GRCm39)	F385S	probably benign	Het
Trpm4	A	T	7: 44,954,432 (GRCm39)	L1133*	probably null	Het
Trpm5	A	G	7: 142,633,131 (GRCm39)		probably null	Het
Ube4b	A	G	4: 149,468,231 (GRCm39)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,228,784 (GRCm39)	T420A	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Zc3h6	T	A	2: 128,858,102 (GRCm39)	I711K		Het
Zer1	T	C	2: 29,991,050 (GRCm39)	Y726C	probably 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
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
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'- AAGGCAAGTCCAGCAAGGTC -3'
(R):5'- CTGCTGAGAGATCCTGAGGAATG -3'

Sequencing Primer
(F):5'- AAGTCCAGCAAGGTCCTGCC -3'
(R):5'- GGTCTGTAGTGCCTAGACTACC -3'

Posted On

2022-08-09