Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Lca5l'

652219

Institutional Source

Beutler Lab

Gene Symbol

Lca5l

Ensembl Gene

ENSMUSG00000045275

Gene Name

Leber congenital amaurosis 5-like

Synonyms

4921526F01Rik

MMRRC Submission

067877-MU

Accession Numbers

Essential gene?

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

Stock #

R8401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95959605-95993450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95963760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 393 (K393R)

Ref Sequence

ENSEMBL: ENSMUSP00000061337 (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 damaging
Transcript: ENSMUST00000054855
AA Change: K393R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: K393R

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 damaging
Transcript: ENSMUST00000113804
AA Change: K388R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: K388R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,467,251 (GRCm39)	Y207C	probably damaging	Het
Ano8	T	C	8: 71,936,011 (GRCm39)	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,659,574 (GRCm39)	I463F	probably damaging	Het
Brca2	T	A	5: 150,475,817 (GRCm39)	I2509N	probably damaging	Het
Brinp3	T	C	1: 146,777,184 (GRCm39)	S544P	probably benign	Het
Chd1	A	G	17: 15,963,473 (GRCm39)	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,870,904 (GRCm39)	V330A	probably benign	Het
Dct	T	C	14: 118,280,615 (GRCm39)	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,214,199 (GRCm39)	D350G	probably damaging	Het
Ddx60	C	T	8: 62,409,277 (GRCm39)	L438F	possibly damaging	Het
Dnah17	T	A	11: 117,915,485 (GRCm39)	K4378M	probably damaging	Het
Drc7	C	T	8: 95,800,763 (GRCm39)	S595F	probably benign	Het
Epb41	C	T	4: 131,702,018 (GRCm39)	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,836,191 (GRCm39)	I389V	probably damaging	Het
Gan	C	A	8: 117,910,242 (GRCm39)	T57K	possibly damaging	Het
Glra3	T	C	8: 56,542,124 (GRCm39)	V289A	probably damaging	Het
Grk1	T	C	8: 13,457,846 (GRCm39)	F249L	probably damaging	Het
Grk6	G	A	13: 55,599,981 (GRCm39)	A258T	possibly damaging	Het
Hars1	T	C	18: 36,904,243 (GRCm39)	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,578,254 (GRCm39)	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,578,255 (GRCm39)	Q418P	probably damaging	Het
Klre1	T	A	6: 129,556,989 (GRCm39)	N30K	probably benign	Het
Lama5	G	T	2: 179,840,580 (GRCm39)	D606E	probably damaging	Het
Lmbrd2	A	T	15: 9,156,294 (GRCm39)	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,468,156 (GRCm39)	P935T	probably damaging	Het
Nes	T	C	3: 87,885,388 (GRCm39)	S1216P	possibly damaging	Het
Nim1k	A	G	13: 120,174,213 (GRCm39)	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,579,841 (GRCm39)	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548 (GRCm39)	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,247,174 (GRCm39)	L66*	probably null	Het
Or2b28	A	T	13: 21,531,997 (GRCm39)	I300L	probably benign	Het
Orm3	A	G	4: 63,274,467 (GRCm39)	S11G	possibly damaging	Het
Pkn3	C	A	2: 29,970,071 (GRCm39)	S126R	probably benign	Het
Pnpla8	T	A	12: 44,335,091 (GRCm39)	D442E	probably damaging	Het
Pop1	A	T	15: 34,508,755 (GRCm39)	T277S	probably damaging	Het
Prkag2	T	C	5: 25,068,868 (GRCm39)	T563A	probably benign	Het
Prkdc	T	A	16: 15,591,477 (GRCm39)	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,144,513 (GRCm39)	I30T	probably benign	Het
Prr9	T	G	3: 92,030,356 (GRCm39)	T95P	possibly damaging	Het
Ptgds	A	G	2: 25,359,669 (GRCm39)	M6T	unknown	Het
Rnaseh2b	T	A	14: 62,607,938 (GRCm39)	D250E	probably benign	Het
Rundc1	C	T	11: 101,324,383 (GRCm39)	T363M	probably damaging	Het
Ryr2	T	A	13: 11,683,821 (GRCm39)	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,053,124 (GRCm39)	I206T	probably benign	Het
Skic8	A	T	9: 54,635,539 (GRCm39)	S21T	probably benign	Het
Slitrk6	A	G	14: 110,989,453 (GRCm39)	S85P	possibly damaging	Het
Spi1	A	G	2: 90,943,650 (GRCm39)	N65D	probably benign	Het
Stx1b	A	T	7: 127,406,945 (GRCm39)		probably benign	Het
Trav5-4	G	A	14: 53,941,750 (GRCm39)	S41N	probably benign	Het
Tspan14	T	C	14: 40,630,049 (GRCm39)	D260G	probably benign	Het
Ube4a	T	C	9: 44,852,527 (GRCm39)	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,275,062 (GRCm39)	T1845I	probably benign	Het
Vps18	T	C	2: 119,127,973 (GRCm39)	L932P	probably damaging	Het
Zfp62	T	A	11: 49,108,218 (GRCm39)	C770S	probably damaging	Het
Zfp672	T	C	11: 58,207,628 (GRCm39)	K231R	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
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

Predicted Primers

PCR Primer
(F):5'- ACAACAAGTGACTGCTTTTAGTC -3'
(R):5'- AACTCTGACTGTGTGTTGCC -3'

Sequencing Primer
(F):5'- GACTGCTTTTAGTCACTTTGCTC -3'
(R):5'- GCCTGTCCTTTAGTGTGAGC -3'

Posted On

2020-10-20