Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02481:Lca5'

295201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lca5

Ensembl Gene

ENSMUSG00000032258

Gene Name

Leber congenital amaurosis 5 (human)

Synonyms

4930431B11Rik, 5730406O13Rik, ORF64

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

IGL02481

Quality Score

Status

Chromosome

Chromosomal Location

83390293-83441127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83423117 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 212 (I212N)

Ref Sequence

ENSEMBL: ENSMUSP00000034791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034791] [ENSMUST00000034793] [ENSMUST00000186802] [ENSMUST00000188548] [ENSMUST00000190514]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034791
AA Change: I212N

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

SMART Domains

Protein: ENSMUSP00000034791
Gene: ENSMUSG00000032258
AA Change: I212N

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	103	295	2.6e-66	PFAM
low complexity region	306	315	N/A	INTRINSIC
low complexity region	617	627	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000034793
AA Change: I212N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034793
Gene: ENSMUSG00000032258
AA Change: I212N

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	102	295	4.8e-71	PFAM
low complexity region	306	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186802

SMART Domains

Protein: ENSMUSP00000139529
Gene: ENSMUSG00000032258

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	102	176	1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190373

Predicted Effect

probably damaging
Transcript: ENSMUST00000190514
AA Change: I212N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140753
Gene: ENSMUSG00000032258
AA Change: I212N

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:Lebercilin	102	295	5.8e-71	PFAM
low complexity region	306	315	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190557

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	G	A	6: 34,363,794	A209T	probably damaging	Het
Ccdc90b	G	A	7: 92,574,646	V117I	probably benign	Het
Cdkl2	A	T	5: 92,037,271	I87N	probably damaging	Het
Cfap57	T	A	4: 118,581,105	E863V	probably damaging	Het
Clca2	G	A	3: 145,084,940	S457L	possibly damaging	Het
Crim1	C	T	17: 78,350,798	T702I	probably damaging	Het
Cysltr1	C	A	X: 106,578,122	V253L	probably damaging	Het
Dgcr6	G	A	16: 18,065,174	A6T	possibly damaging	Het
Dis3l	T	C	9: 64,319,080		probably null	Het
Dnm3	A	G	1: 162,010,902	S826P	probably damaging	Het
Dspp	A	G	5: 104,175,648	N219S	possibly damaging	Het
Dzip3	T	C	16: 48,975,551		probably benign	Het
Erc2	T	A	14: 27,653,071	L82Q	probably damaging	Het
Ercc6l	T	C	X: 102,144,669	T745A	probably benign	Het
Gata4	T	C	14: 63,200,461	T414A	probably benign	Het
Gmps	A	G	3: 64,014,352	D592G	probably damaging	Het
Grin3a	A	G	4: 49,702,868	Y873H	probably damaging	Het
Gsr	T	C	8: 33,685,541		probably benign	Het
Gtf2h1	T	C	7: 46,804,993	L133P	probably damaging	Het
Ifna5	A	C	4: 88,836,090	E189A	probably benign	Het
Irx5	A	G	8: 92,360,679	Y413C	probably damaging	Het
Kcnk3	A	G	5: 30,622,383	E259G	probably damaging	Het
Kcnt2	T	C	1: 140,354,561		probably benign	Het
Kif19a	A	G	11: 114,789,153	E772G	probably benign	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Krt78	C	A	15: 101,948,418		probably benign	Het
Lgr6	T	C	1: 135,001,691		probably benign	Het
Madd	T	G	2: 91,178,036	T174P	probably damaging	Het
Mcm9	A	G	10: 53,625,937	I184T	probably damaging	Het
Mlycd	G	A	8: 119,410,334	R431H	probably damaging	Het
Myh10	G	A	11: 68,802,168	A1393T	probably benign	Het
Myof	G	T	19: 37,937,913	Y1144*	probably null	Het
Nbeal2	G	A	9: 110,625,995	Q2578*	probably null	Het
Nlrp4f	T	A	13: 65,194,734	T366S	probably benign	Het
Nnat	T	C	2: 157,561,247	F36S	possibly damaging	Het
Nsd3	C	A	8: 25,691,116	P915T	probably damaging	Het
Olfr117	A	G	17: 37,659,472	L287P	probably damaging	Het
Olfr1335	C	T	4: 118,809,499	V122M	probably benign	Het
Olfr351	A	T	2: 36,859,818	C177S	probably damaging	Het
Olfr370	A	C	8: 83,541,386	M81L	possibly damaging	Het
Olfr723	G	A	14: 49,928,707	T279I	probably damaging	Het
Pkd1l3	A	G	8: 109,614,782	N89S	unknown	Het
Pkd2	T	C	5: 104,486,770	F556L	probably damaging	Het
Psen2	T	A	1: 180,235,061	M239L	probably damaging	Het
Rad50	A	G	11: 53,680,049	I794T	probably benign	Het
Ralgps1	G	A	2: 33,340,729	T14I	probably benign	Het
Rnpepl1	C	T	1: 92,915,907	P250S	probably damaging	Het
Slc47a2	A	G	11: 61,336,241	V167A	possibly damaging	Het
Tmem161b	T	A	13: 84,283,993	V41D	probably damaging	Het
Vmn2r88	A	T	14: 51,414,154	E308D	probably benign	Het
Wdr61	T	C	9: 54,728,261	I19V	probably damaging	Het
Zfhx4	G	A	3: 5,411,843	E3148K	probably damaging	Het

Other mutations in Lca5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Lca5	APN	9	83395475	missense	probably damaging	0.98
IGL01349:Lca5	APN	9	83426617	missense	probably damaging	1.00
IGL01918:Lca5	APN	9	83423148	missense	probably damaging	1.00
IGL02035:Lca5	APN	9	83423312	missense	probably damaging	1.00
IGL02276:Lca5	APN	9	83398585	missense	possibly damaging	0.79
IGL02425:Lca5	APN	9	83399721	missense	probably damaging	1.00
IGL02483:Lca5	APN	9	83423117	missense	probably damaging	1.00
R0465:Lca5	UTSW	9	83395867	nonsense	probably null
R0610:Lca5	UTSW	9	83399739	missense	probably benign	0.24
R0811:Lca5	UTSW	9	83399753	missense	possibly damaging	0.95
R0812:Lca5	UTSW	9	83399753	missense	possibly damaging	0.95
R0968:Lca5	UTSW	9	83423169	missense	probably benign	0.01
R1891:Lca5	UTSW	9	83395608	missense	probably damaging	1.00
R5223:Lca5	UTSW	9	83398613	missense	probably benign	0.00
R5235:Lca5	UTSW	9	83423054	nonsense	probably null
R5260:Lca5	UTSW	9	83423223	missense	probably damaging	0.98
R5531:Lca5	UTSW	9	83398595	missense	probably benign	0.00
R5558:Lca5	UTSW	9	83401743	missense	probably damaging	0.99
R5688:Lca5	UTSW	9	83398566	missense	probably benign	0.01
R5886:Lca5	UTSW	9	83399681	missense	probably benign	0.31
R6426:Lca5	UTSW	9	83395654	nonsense	probably null
R7108:Lca5	UTSW	9	83423169	missense	probably benign	0.25
R7151:Lca5	UTSW	9	83398640	missense	probably benign	0.20
R7314:Lca5	UTSW	9	83395510	missense	possibly damaging	0.86
R7378:Lca5	UTSW	9	83395530	missense	probably benign	0.00
R7468:Lca5	UTSW	9	83423456	missense	probably damaging	0.99
R7686:Lca5	UTSW	9	83395239	missense	probably benign	0.00
R8874:Lca5	UTSW	9	83395450	missense	probably damaging	1.00

Posted On

2015-04-16