Mutagenetix > Incidental Mutation

Incidental Mutation 'R5056:Lss'

390857

Institutional Source

Beutler Lab

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

Osc, D10Ertd116e, 2810025N20Rik

MMRRC Submission

042646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76367422-76392972 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 76388760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048678]

AlphaFold

Q8BLN5

Predicted Effect

probably null
Transcript: ENSMUST00000048678

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105

Domain	Start	End	E-Value	Type
Pfam:SQHop_cyclase_N	80	373	2.4e-47	PFAM
Pfam:Prenyltrans	84	117	3.9e-3	PFAM
Pfam:Prenyltrans	123	166	5.2e-14	PFAM
Pfam:SQHop_cyclase_C	384	722	4.6e-58	PFAM
Pfam:Prenyltrans	560	601	9.9e-14	PFAM
Pfam:Prenyltrans	611	663	1.4e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162848

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: This gene encodes an enzyme that catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,421 (GRCm39)	K229*	probably null	Het
Adora2a	T	A	10: 75,161,992 (GRCm39)	S44T	probably damaging	Het
Agap3	T	C	5: 24,682,860 (GRCm39)	V459A	probably damaging	Het
Apc2	T	C	10: 80,137,148 (GRCm39)	V31A	probably benign	Het
Asic2	T	A	11: 80,862,429 (GRCm39)	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,136,401 (GRCm39)	P505S	probably benign	Het
Brd10	A	T	19: 29,694,759 (GRCm39)	I1578K	probably benign	Het
Cdh20	G	T	1: 104,881,722 (GRCm39)	V396L	probably benign	Het
Cenpb	C	T	2: 131,020,091 (GRCm39)		probably benign	Het
Chil6	T	A	3: 106,301,659 (GRCm39)	Y147F	probably damaging	Het
Cluh	C	T	11: 74,552,772 (GRCm39)	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,909,302 (GRCm39)	T404A	possibly damaging	Het
Cnot1	T	C	8: 96,467,636 (GRCm39)	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,463,529 (GRCm39)	S61P	probably damaging	Het
Dmxl1	T	C	18: 50,003,990 (GRCm39)	C872R	probably benign	Het
Dnah3	A	G	7: 119,620,169 (GRCm39)	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,183,199 (GRCm39)	V73D	probably damaging	Het
F5	A	T	1: 164,019,601 (GRCm39)	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,550,670 (GRCm39)	L80I	probably damaging	Het
Foxj2	A	G	6: 122,810,833 (GRCm39)	H271R	probably benign	Het
Grm7	A	G	6: 111,057,404 (GRCm39)	T335A	probably damaging	Het
Hspa9	A	G	18: 35,071,734 (GRCm39)	L622P	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,574,244 (GRCm39)		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,635,113 (GRCm39)	N237K	probably damaging	Het
Map6	T	C	7: 98,985,859 (GRCm39)	F588L	probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Med13	A	T	11: 86,219,391 (GRCm39)	S352T	probably benign	Het
Mettl16	T	A	11: 74,707,766 (GRCm39)	V320E	probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,194,143 (GRCm39)	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,418,130 (GRCm39)	S83P	probably damaging	Het
Or52l1	T	A	7: 104,829,779 (GRCm39)	H262L	probably damaging	Het
Or5m13	T	A	2: 85,748,480 (GRCm39)	D70E	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,364 (GRCm39)	I184F	unknown	Het
Or9m1	T	C	2: 87,733,915 (GRCm39)	Y35C	probably damaging	Het
Pafah1b3	C	T	7: 24,994,764 (GRCm39)	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,571,357 (GRCm39)	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,762,130 (GRCm39)		probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel34	T	C	5: 93,786,784 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,782,679 (GRCm39)	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,391 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,441 (GRCm39)	P277L	probably damaging	Het
Robo4	T	C	9: 37,316,102 (GRCm39)	S258P	probably benign	Het
Sfrp1	T	A	8: 23,907,420 (GRCm39)	F207I	probably damaging	Het
Sgms1	A	G	19: 32,137,087 (GRCm39)	S160P	probably damaging	Het
Sil1	T	C	18: 35,402,755 (GRCm39)	K263R	probably benign	Het
St14	A	G	9: 31,008,847 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,955,905 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,995,835 (GRCm39)	S1013P	probably benign	Het
Tent5b	C	T	4: 133,207,749 (GRCm39)	R47W	possibly damaging	Het
Tmem67	T	C	4: 12,070,471 (GRCm39)	S352G	probably benign	Het
Trib2	C	A	12: 15,843,795 (GRCm39)	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,054,482 (GRCm39)		probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,992,762 (GRCm39)	N305D	possibly damaging	Het
Usp32	A	G	11: 84,917,621 (GRCm39)	V802A	probably benign	Het
Vmn2r48	T	A	7: 9,676,251 (GRCm39)	H410L	probably damaging	Het
Wfs1	T	C	5: 37,132,931 (GRCm39)	N116S	probably benign	Het
Wif1	A	T	10: 120,935,684 (GRCm39)	H333L	probably benign	Het
Zfp109	T	C	7: 23,928,162 (GRCm39)	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,320,444 (GRCm39)	C558S	probably damaging	Het
Zpbp	T	C	11: 11,409,734 (GRCm39)	D116G	possibly damaging	Het

Other mutations in Lss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Lss	APN	10	76,372,094 (GRCm39)	missense	probably damaging	1.00
IGL02561:Lss	APN	10	76,376,264 (GRCm39)	unclassified	probably benign
IGL02991:Lss	APN	10	76,379,745 (GRCm39)	unclassified	probably benign
IGL03059:Lss	APN	10	76,367,860 (GRCm39)	splice site	probably benign
IGL03328:Lss	APN	10	76,376,785 (GRCm39)	missense	probably damaging	1.00
IGL03389:Lss	APN	10	76,372,173 (GRCm39)	missense	probably damaging	1.00
R1426:Lss	UTSW	10	76,372,137 (GRCm39)	missense	probably damaging	0.98
R1529:Lss	UTSW	10	76,372,123 (GRCm39)	nonsense	probably null
R1727:Lss	UTSW	10	76,375,678 (GRCm39)	missense	possibly damaging	0.95
R1815:Lss	UTSW	10	76,388,798 (GRCm39)	missense	probably damaging	1.00
R1940:Lss	UTSW	10	76,381,296 (GRCm39)	missense	possibly damaging	0.95
R2051:Lss	UTSW	10	76,367,712 (GRCm39)	missense	possibly damaging	0.63
R2061:Lss	UTSW	10	76,381,932 (GRCm39)	splice site	probably null
R3700:Lss	UTSW	10	76,382,026 (GRCm39)	missense	probably damaging	1.00
R4020:Lss	UTSW	10	76,383,278 (GRCm39)	missense	probably damaging	1.00
R4619:Lss	UTSW	10	76,372,089 (GRCm39)	missense	probably benign	0.11
R4995:Lss	UTSW	10	76,383,371 (GRCm39)	missense	probably benign	0.10
R5134:Lss	UTSW	10	76,382,070 (GRCm39)	unclassified	probably benign
R6074:Lss	UTSW	10	76,379,693 (GRCm39)	missense	probably damaging	1.00
R6140:Lss	UTSW	10	76,386,522 (GRCm39)	missense	probably damaging	1.00
R7214:Lss	UTSW	10	76,383,305 (GRCm39)	missense	probably damaging	1.00
R7717:Lss	UTSW	10	76,381,286 (GRCm39)	missense	possibly damaging	0.88
R8263:Lss	UTSW	10	76,367,739 (GRCm39)	missense	probably damaging	1.00
R8350:Lss	UTSW	10	76,371,429 (GRCm39)	missense	probably damaging	1.00
R8450:Lss	UTSW	10	76,371,429 (GRCm39)	missense	probably damaging	1.00
R9735:Lss	UTSW	10	76,382,615 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCTGGGTTTCCATGTGTC -3'
(R):5'- ATGGTGATGATGCTGGCCAG -3'

Sequencing Primer
(F):5'- CCTATGGGGATTGTTAGAGACTAC -3'
(R):5'- GGTGCAGCAGACACACACG -3'

Posted On

2016-06-06