Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Aipl1'

646877

Institutional Source

Beutler Lab

Gene Symbol

Aipl1

Ensembl Gene

ENSMUSG00000040554

Gene Name

aryl hydrocarbon receptor-interacting protein-like 1

Synonyms

A930007I01Rik

MMRRC Submission

067810-MU

Accession Numbers

Essential gene?

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

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71918789-71928335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71920126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 314 (D314G)

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: D314G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000036279
Gene: ENSMUSG00000040554
AA Change: D314G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	T	G	17: 66,290,939 (GRCm39)	E1498A	probably benign	Het
Appl1	A	T	14: 26,647,372 (GRCm39)		probably null	Het
Auh	A	G	13: 53,063,349 (GRCm39)	*116R	probably null	Het
Ccdc7a	T	A	8: 129,691,417 (GRCm39)	H402L	probably benign	Het
Ccr4	T	C	9: 114,321,235 (GRCm39)	T277A	probably benign	Het
Col18a1	C	T	10: 76,889,072 (GRCm39)	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,688,925 (GRCm39)	I35T	probably benign	Het
Csnk1e	T	C	15: 79,304,882 (GRCm39)	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,437,020 (GRCm39)	R105G	probably benign	Het
Denr	C	A	5: 124,065,124 (GRCm39)	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,359,571 (GRCm39)	Y82*	probably null	Het
Dok3	A	G	13: 55,671,833 (GRCm39)	V246A	probably benign	Het
Endov	A	C	11: 119,382,723 (GRCm39)	K57Q	possibly damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbln1	G	A	15: 85,116,773 (GRCm39)	C275Y	probably damaging	Het
Fhip1b	T	C	7: 105,034,342 (GRCm39)	N430D	possibly damaging	Het
Foxi1	A	G	11: 34,157,530 (GRCm39)	I165T	possibly damaging	Het
Gm14496	A	T	2: 181,642,275 (GRCm39)	I649F	probably damaging	Het
Grin2b	A	G	6: 135,899,967 (GRCm39)	S305P	probably damaging	Het
Grm1	G	A	10: 10,564,879 (GRCm39)	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,802,298 (GRCm39)		probably null	Het
Klhl32	A	T	4: 24,629,194 (GRCm39)	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Krt13	A	G	11: 100,009,706 (GRCm39)	L358P	probably damaging	Het
Limk2	G	A	11: 3,321,162 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,756,453 (GRCm39)	D4720G	probably null	Het
Mkln1	T	A	6: 31,435,900 (GRCm39)	Y286*	probably null	Het
Muc6	C	A	7: 141,230,579 (GRCm39)	E1143*	probably null	Het
Myh15	A	G	16: 48,901,551 (GRCm39)	I242M	probably benign	Het
Noc4l	T	G	5: 110,798,828 (GRCm39)	K241Q	probably damaging	Het
Nup88	C	A	11: 70,860,607 (GRCm39)	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or51aa2	A	G	7: 103,188,183 (GRCm39)	I86T	possibly damaging	Het
Orm1	A	T	4: 63,264,355 (GRCm39)	D137V	probably damaging	Het
Osbpl2	T	A	2: 179,778,895 (GRCm39)	D9E	probably damaging	Het
P4ha3	G	T	7: 99,942,986 (GRCm39)	D124Y	probably damaging	Het
Poteg	T	C	8: 27,943,354 (GRCm39)	V208A	probably benign	Het
Ppfibp1	A	G	6: 146,931,843 (GRCm39)	D963G	probably damaging	Het
Prdx6	G	T	1: 161,078,660 (GRCm39)	D9E	probably benign	Het
Prrc2b	C	A	2: 32,104,666 (GRCm39)	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,565,598 (GRCm39)	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rexo5	A	T	7: 119,433,508 (GRCm39)	M422L	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo2	A	T	16: 73,730,588 (GRCm39)	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,106,755 (GRCm39)	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,225,048 (GRCm39)	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,850,668 (GRCm39)	M487L	probably benign	Het
St6galnac1	C	A	11: 116,666,325 (GRCm39)		probably benign	Het
Tcp11l2	A	G	10: 84,449,469 (GRCm39)	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,223,482 (GRCm39)	C67*	probably null	Het
Tead2	G	A	7: 44,867,505 (GRCm39)	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849 (GRCm39)	N194K	probably damaging	Het
Timd2	A	G	11: 46,568,027 (GRCm39)		probably null	Het
Tmem270	T	C	5: 134,930,557 (GRCm39)	T235A	probably benign	Het
Tnrc18	T	C	5: 142,774,157 (GRCm39)	D224G		Het
Tsga10	G	T	1: 37,840,959 (GRCm39)	Q416K	probably benign	Het
Ulk1	C	A	5: 110,935,531 (GRCm39)	L911F	probably damaging	Het
Usp8	T	C	2: 126,584,491 (GRCm39)	S567P	probably benign	Het
Vmn2r-ps158	C	T	7: 42,697,270 (GRCm39)	P776S	probably damaging	Het
Zdhhc3	A	C	9: 122,918,143 (GRCm39)	C129G	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
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'- AGAGAAGTCACTGGTAGCCTC -3'
(R):5'- CTGTACACTTCTCCACGCAG -3'

Sequencing Primer
(F):5'- GTAGCCTCCTGGTAGCCAAGAAC -3'
(R):5'- GGGATCGTGAAGGCCTACTATATGC -3'

Posted On

2020-09-02