Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Aipl1'

722302

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 #

R9576 (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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Aars1	T	A	8: 111,768,296 (GRCm39)	Y222*	probably null	Het
Abi2	G	T	1: 60,449,008 (GRCm39)	R16L	possibly damaging	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Adgrv1	T	C	13: 81,691,608 (GRCm39)	T1660A	probably benign	Het
Arhgap26	T	A	18: 39,253,207 (GRCm39)	Y211*	probably null	Het
Ascc3	T	C	10: 50,494,254 (GRCm39)	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,030,436 (GRCm39)	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,407,544 (GRCm39)	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,658,338 (GRCm39)	T241A		Het
Chd9	T	A	8: 91,659,294 (GRCm39)	S85T	unknown	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Crygb	T	C	1: 65,119,686 (GRCm39)	D98G	probably benign	Het
Ctbp2	A	T	7: 132,616,198 (GRCm39)	S246T	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Dpp10	A	G	1: 123,269,409 (GRCm39)	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659 (GRCm39)	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Glp2r	T	C	11: 67,655,622 (GRCm39)	K40R	probably benign	Het
H2-Q5	G	A	17: 35,613,413 (GRCm39)	V49M		Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hc	T	A	2: 34,873,767 (GRCm39)	T1656S	probably benign	Het
Hfm1	A	T	5: 107,021,938 (GRCm39)	I999N	probably benign	Het
Hoxc4	A	T	15: 102,944,384 (GRCm39)	E254V	probably benign	Het
Il5ra	T	C	6: 106,712,688 (GRCm39)	N275S	probably damaging	Het
Itfg2	C	A	6: 128,389,950 (GRCm39)	A272S	probably benign	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Jakmip3	A	G	7: 138,621,988 (GRCm39)	E296G	probably damaging	Het
Jchain	T	G	5: 88,673,976 (GRCm39)	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,944,307 (GRCm39)	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Klk1b4	A	T	7: 43,860,477 (GRCm39)	D165V	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo18a	T	A	11: 77,709,827 (GRCm39)	I607N	probably damaging	Het
Nefh	C	T	11: 4,891,222 (GRCm39)	E466K	possibly damaging	Het
Nudc	T	C	4: 133,262,989 (GRCm39)	E118G	probably benign	Het
Or2aj6	A	T	16: 19,442,961 (GRCm39)	D296E	probably damaging	Het
Or56a3	T	C	7: 104,735,760 (GRCm39)	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Plekha7	T	C	7: 115,728,669 (GRCm39)	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Prkag3	A	T	1: 74,787,082 (GRCm39)	W59R		Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Skap1	T	C	11: 96,472,030 (GRCm39)	F101S	probably benign	Het
Slc16a8	T	A	15: 79,136,182 (GRCm39)	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,578,004 (GRCm39)	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,556,235 (GRCm39)	D47A	probably benign	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,742,367 (GRCm39)	M387V	probably benign	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,946,822 (GRCm39)	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,511,335 (GRCm39)	G385W	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Usp13	A	T	3: 32,969,135 (GRCm39)		probably null	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn2r50	T	C	7: 9,771,190 (GRCm39)	Q837R	probably benign	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	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
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
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'- AAGGCAAGTCCAGCAAGGTC -3'
(R):5'- ATCTGCTGAGAGATCCTGAGG -3'

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

Posted On

2022-08-09