Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00667:Lca5l'

12703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lca5l

Ensembl Gene

ENSMUSG00000045275

Gene Name

Leber congenital amaurosis 5-like

Synonyms

4921526F01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL00667

Quality Score

Status

Chromosome

Chromosomal Location

95959605-95993450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95962612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 438 (S438P)

Ref Sequence

ENSEMBL: ENSMUSP00000109435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000054855] [ENSMUST00000113804]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023913

SMART Domains

Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147

Domain	Start	End	E-Value	Type
Pfam:CHD5	12	163	1.4e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054855
AA Change: S443P

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: S443P

Domain	Start	End	E-Value	Type
low complexity region	39	53	N/A	INTRINSIC
Pfam:Lebercilin	144	336	5.6e-68	PFAM
low complexity region	528	544	N/A	INTRINSIC
low complexity region	654	670	N/A	INTRINSIC
low complexity region	679	688	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113804
AA Change: S438P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: S438P

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
Pfam:Lebercilin	138	331	1.9e-71	PFAM
low complexity region	523	539	N/A	INTRINSIC
low complexity region	649	665	N/A	INTRINSIC
low complexity region	674	683	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142620

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	C	T	14: 68,759,387 (GRCm39)	V233I	possibly damaging	Het
Casp1	A	G	9: 5,303,756 (GRCm39)	I281V	probably benign	Het
Casp12	A	G	9: 5,352,665 (GRCm39)		probably null	Het
Cd109	T	C	9: 78,592,159 (GRCm39)	Y758H	probably damaging	Het
Cfap53	T	G	18: 74,433,263 (GRCm39)	M116R	probably damaging	Het
Cldn17	A	T	16: 88,303,045 (GRCm39)		probably benign	Het
Kmt2a	A	C	9: 44,735,683 (GRCm39)		probably benign	Het
Ube2q2l	T	A	6: 136,377,996 (GRCm39)	D278V	possibly damaging	Het
Vps13a	T	C	19: 16,737,040 (GRCm39)	D99G	probably damaging	Het
Zfp512b	C	T	2: 181,231,526 (GRCm39)	S208N	probably damaging	Het

Other mutations in Lca5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02893:Lca5l	APN	16	95,980,113 (GRCm39)	missense	probably benign	0.01
IGL03056:Lca5l	APN	16	95,962,551 (GRCm39)	missense	probably benign	0.26
IGL03208:Lca5l	APN	16	95,980,046 (GRCm39)	missense	probably damaging	0.98
IGL03267:Lca5l	APN	16	95,960,983 (GRCm39)	missense	probably benign	0.03
R0417:Lca5l	UTSW	16	95,963,853 (GRCm39)	missense	probably damaging	1.00
R0961:Lca5l	UTSW	16	95,962,560 (GRCm39)	missense	possibly damaging	0.90
R1458:Lca5l	UTSW	16	95,961,059 (GRCm39)	missense	possibly damaging	0.95
R1650:Lca5l	UTSW	16	95,980,140 (GRCm39)	critical splice acceptor site	probably null
R1669:Lca5l	UTSW	16	95,961,008 (GRCm39)	missense	possibly damaging	0.95
R1706:Lca5l	UTSW	16	95,977,164 (GRCm39)	missense	probably benign	0.41
R2004:Lca5l	UTSW	16	95,977,218 (GRCm39)	missense	possibly damaging	0.95
R2004:Lca5l	UTSW	16	95,963,849 (GRCm39)	missense	probably damaging	1.00
R4291:Lca5l	UTSW	16	95,979,974 (GRCm39)	missense	probably damaging	1.00
R4307:Lca5l	UTSW	16	95,960,756 (GRCm39)	unclassified	probably benign
R4824:Lca5l	UTSW	16	95,963,229 (GRCm39)	nonsense	probably null
R4920:Lca5l	UTSW	16	95,980,035 (GRCm39)	missense	probably damaging	1.00
R4991:Lca5l	UTSW	16	95,960,932 (GRCm39)	missense	possibly damaging	0.90
R5591:Lca5l	UTSW	16	95,979,929 (GRCm39)	missense	probably damaging	1.00
R5774:Lca5l	UTSW	16	95,977,261 (GRCm39)	missense	probably benign	0.22
R6243:Lca5l	UTSW	16	95,980,112 (GRCm39)	missense	possibly damaging	0.90
R6403:Lca5l	UTSW	16	95,975,045 (GRCm39)	missense	probably benign	0.41
R7153:Lca5l	UTSW	16	95,975,009 (GRCm39)	missense	probably damaging	0.98
R7754:Lca5l	UTSW	16	95,960,761 (GRCm39)	missense	unknown
R7758:Lca5l	UTSW	16	95,980,037 (GRCm39)	missense	probably benign	0.00
R7814:Lca5l	UTSW	16	95,963,757 (GRCm39)	critical splice donor site	probably null
R8357:Lca5l	UTSW	16	95,960,908 (GRCm39)	missense	possibly damaging	0.95
R8401:Lca5l	UTSW	16	95,963,760 (GRCm39)	missense	probably damaging	0.99
R8457:Lca5l	UTSW	16	95,960,908 (GRCm39)	missense	possibly damaging	0.95
R8527:Lca5l	UTSW	16	95,960,438 (GRCm39)	missense	probably damaging	1.00
R8807:Lca5l	UTSW	16	95,979,808 (GRCm39)	missense	probably benign	0.01
R9105:Lca5l	UTSW	16	95,960,671 (GRCm39)	missense	probably damaging	0.99
R9146:Lca5l	UTSW	16	95,960,998 (GRCm39)	missense	probably damaging	0.98
R9165:Lca5l	UTSW	16	95,977,218 (GRCm39)	missense	probably damaging	0.99
R9378:Lca5l	UTSW	16	95,977,212 (GRCm39)	missense	probably damaging	1.00
R9657:Lca5l	UTSW	16	95,974,953 (GRCm39)	nonsense	probably null
RF031:Lca5l	UTSW	16	95,960,504 (GRCm39)	frame shift	probably null
RF042:Lca5l	UTSW	16	95,960,497 (GRCm39)	frame shift	probably null
RF050:Lca5l	UTSW	16	95,960,501 (GRCm39)	small deletion	probably benign
RF059:Lca5l	UTSW	16	95,960,501 (GRCm39)	small deletion	probably benign

Posted On

2012-12-06