Mutagenetix > Incidental Mutation

Incidental Mutation 'RF050:Lca5l'

605127

Institutional Source

Beutler Lab

Gene Symbol

Lca5l

Ensembl Gene

ENSMUSG00000045275

Gene Name

Leber congenital amaurosis 5-like

Synonyms

4921526F01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

RF050 (G1)

Quality Score

215.654

Status

Not validated

Chromosome

Chromosomal Location

95959605-95993450 bp(-) (GRCm39)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

TGGCCCTGGCCCCGGCCC to TGGCCC at 95960501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000054855

SMART Domains

Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275

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

probably benign
Transcript: ENSMUST00000113804

SMART Domains

Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,980 (GRCm39)		probably benign	Het
Calhm1	GCTGTGGC	GCTGTGGCTGTGTCTGTGGC	19: 47,129,709 (GRCm39)		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,511,008 (GRCm39)		probably benign	Het
Cntnap1	CAGCC	CAGCCCAAGCC	11: 101,080,418 (GRCm39)		probably benign	Het
Gabre	CAGGCT	CAGGCTAAGGCT	X: 71,314,347 (GRCm39)		probably null	Het
Garin5a	CTGGGTCTGAGGGAGGA	CTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACATGGGTCTGAGGGAGGA	7: 44,149,945 (GRCm39)		probably null	Het
Gm38119	C	T	3: 92,645,196 (GRCm39)	G133S	not run	Het
Gm6665	T	TC	18: 31,953,430 (GRCm39)		probably null	Het
Med12l	AGC	AGCCGC	3: 59,183,394 (GRCm39)		probably benign	Het
Pou3f1	CGGCGG	CGGCGGAGGCGG	4: 124,551,597 (GRCm39)		probably benign	Het
Rtbdn	CGGCAG	CGGCAGAGGCAG	8: 85,682,799 (GRCm39)		probably benign	Het
Tcof1	CTTGGC	CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCGTTGGC	18: 60,966,651 (GRCm39)		probably benign	Het

Other mutations in Lca5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00667:Lca5l	APN	16	95,962,612 (GRCm39)	missense	possibly damaging	0.90
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
RF059:Lca5l	UTSW	16	95,960,501 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGCATTTAAACAACAGTCTTCC -3'
(R):5'- GAAGCACTACTCCTTCACCGAG -3'

Sequencing Primer
(F):5'- CAGTCTTCCTGTTGGCTTCGG -3'
(R):5'- TCCTTCACCGAGGCCAC -3'

Posted On

2019-12-04