Mutagenetix > Incidental Mutation

Incidental Mutation 'R1706:Lca5l'

190099

Institutional Source

Beutler Lab

Gene Symbol

Lca5l

Ensembl Gene

ENSMUSG00000045275

Gene Name

Leber congenital amaurosis 5-like

Synonyms

4921526F01Rik

MMRRC Submission

039739-MU

Accession Numbers

Essential gene?

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

Stock #

R1706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95959605-95993450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95977164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 214 (N214S)

Ref Sequence

ENSEMBL: ENSMUSP00000061337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000054855
AA Change: N214S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061337
Gene: ENSMUSG00000045275
AA Change: N214S

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
AA Change: N209S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109435
Gene: ENSMUSG00000045275
AA Change: N209S

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

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,624,059 (GRCm39)		probably benign	Het
4931406C07Rik	G	A	9: 15,209,153 (GRCm39)	T47I	probably damaging	Het
Adcy2	T	A	13: 68,868,865 (GRCm39)	N558I	probably damaging	Het
Ago3	G	A	4: 126,264,085 (GRCm39)	P374S	probably damaging	Het
Ak8	T	C	2: 28,650,007 (GRCm39)	C345R	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
BC005624	T	C	2: 30,868,922 (GRCm39)	E84G	possibly damaging	Het
Cav1	T	C	6: 17,339,181 (GRCm39)	F89L	probably damaging	Het
Cfap206	G	A	4: 34,688,875 (GRCm39)	P593L	probably damaging	Het
Clcn6	G	A	4: 148,102,025 (GRCm39)	T353I	probably benign	Het
Cstl1	G	A	2: 148,593,079 (GRCm39)		probably null	Het
Cyp2d10	A	C	15: 82,289,783 (GRCm39)	S140A	probably damaging	Het
D130052B06Rik	G	A	11: 33,566,230 (GRCm39)	R18H	unknown	Het
Ddi2	A	G	4: 141,411,308 (GRCm39)	F535L	probably benign	Het
Dop1a	C	T	9: 86,436,133 (GRCm39)	T2383M	possibly damaging	Het
Duox1	A	G	2: 122,149,953 (GRCm39)	T115A	probably benign	Het
Ercc6l2	T	A	13: 64,020,272 (GRCm39)		probably benign	Het
Gm7052	A	G	17: 22,258,823 (GRCm39)		probably benign	Het
Gm9925	G	A	18: 74,198,573 (GRCm39)		probably benign	Het
Gnas	T	A	2: 174,141,768 (GRCm39)	S646T	possibly damaging	Het
Gpatch3	T	A	4: 133,302,484 (GRCm39)	C138*	probably null	Het
Igsf8	C	T	1: 172,144,972 (GRCm39)	R100C	probably damaging	Het
Kcnh3	A	G	15: 99,135,959 (GRCm39)	K652R	possibly damaging	Het
Kcnn4	T	A	7: 24,074,167 (GRCm39)	V77E	probably damaging	Het
Kif13b	T	A	14: 64,998,115 (GRCm39)		probably benign	Het
Luc7l3	T	C	11: 94,188,582 (GRCm39)		probably benign	Het
Lypd3	T	C	7: 24,339,755 (GRCm39)	I274T	probably benign	Het
Macf1	A	G	4: 123,264,377 (GRCm39)		probably null	Het
Mchr1	A	G	15: 81,121,364 (GRCm39)	Y38C	probably damaging	Het
Mia2	T	A	12: 59,191,552 (GRCm39)	L716*	probably null	Het
Mki67	A	G	7: 135,302,295 (GRCm39)	L913P	probably benign	Het
Mug2	T	A	6: 122,013,191 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,472,563 (GRCm39)	L58P	probably damaging	Het
Or4p23	G	A	2: 88,576,482 (GRCm39)	P250L	probably damaging	Het
Or8h9	A	T	2: 86,789,424 (GRCm39)	I126N	probably damaging	Het
Pak1ip1	T	C	13: 41,166,164 (GRCm39)	V363A	probably benign	Het
Pcdhb16	A	G	18: 37,612,705 (GRCm39)	D555G	probably benign	Het
Pygb	G	A	2: 150,669,067 (GRCm39)	G671D	probably damaging	Het
Rab30	A	T	7: 92,478,875 (GRCm39)	I79L	possibly damaging	Het
Rab44	C	A	17: 29,357,080 (GRCm39)	T70K	probably damaging	Het
Rccd1	C	G	7: 79,970,411 (GRCm39)	G69R	possibly damaging	Het
Sema5b	T	C	16: 35,470,125 (GRCm39)	V329A	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc22a14	T	C	9: 119,010,050 (GRCm39)	N15S	probably benign	Het
Smurf2	G	A	11: 106,715,573 (GRCm39)	H632Y	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tgm6	T	C	2: 129,987,079 (GRCm39)	C516R	possibly damaging	Het
Tmprss9	T	C	10: 80,734,021 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,521,160 (GRCm39)	N174S	probably damaging	Het
Ttc8	C	A	12: 98,910,142 (GRCm39)	T123K	probably benign	Het
Ugt1a7c	T	A	1: 88,023,447 (GRCm39)	M202K	probably damaging	Het
Vmn2r7	T	A	3: 64,598,880 (GRCm39)	H559L	possibly damaging	Het
Zfp511	A	G	7: 139,617,192 (GRCm39)	D96G	probably benign	Het
Zfp868	A	G	8: 70,065,060 (GRCm39)	Y92H	probably benign	Het
Zzz3	T	A	3: 152,154,735 (GRCm39)	D633E	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CGGTCAACCTGTCAGTCAGTTCTTC -3'
(R):5'- GCCTCTCAGTTTCATGGCATTTGTG -3'

Sequencing Primer
(F):5'- AGTTCTTCTCTCTCTGCAAGG -3'
(R):5'- TGTCAGCCAGGCTTCATAAG -3'

Posted On

2014-05-14