Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Lss'

162251

Institutional Source

Beutler Lab

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

2810025N20Rik, Osc, D10Ertd116e

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1426 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

76531588-76557138 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76536303 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 164 (I164T)

Ref Sequence

ENSEMBL: ENSMUSP00000046856 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048678
AA Change: I164T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: I164T

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: ENSMUST00000159013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162475

Meta Mutation Damage Score

0.7929

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zbtb5	T	C	4: 44,993,968	H472R	possibly damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Lss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Lss	APN	10	76536260	missense	probably damaging	1.00
IGL02561:Lss	APN	10	76540430	unclassified	probably benign
IGL02991:Lss	APN	10	76543911	unclassified	probably benign
IGL03059:Lss	APN	10	76532026	splice site	probably benign
IGL03328:Lss	APN	10	76540951	missense	probably damaging	1.00
IGL03389:Lss	APN	10	76536339	missense	probably damaging	1.00
R1529:Lss	UTSW	10	76536289	nonsense	probably null
R1727:Lss	UTSW	10	76539844	missense	possibly damaging	0.95
R1815:Lss	UTSW	10	76552964	missense	probably damaging	1.00
R1940:Lss	UTSW	10	76545462	missense	possibly damaging	0.95
R2051:Lss	UTSW	10	76531878	missense	possibly damaging	0.63
R2061:Lss	UTSW	10	76546098	splice site	probably null
R3700:Lss	UTSW	10	76546192	missense	probably damaging	1.00
R4020:Lss	UTSW	10	76547444	missense	probably damaging	1.00
R4619:Lss	UTSW	10	76536255	missense	probably benign	0.11
R4995:Lss	UTSW	10	76547537	missense	probably benign	0.10
R5056:Lss	UTSW	10	76552926	splice site	probably null
R5134:Lss	UTSW	10	76546236	unclassified	probably benign
R6074:Lss	UTSW	10	76543859	missense	probably damaging	1.00
R6140:Lss	UTSW	10	76550688	missense	probably damaging	1.00
R7214:Lss	UTSW	10	76547471	missense	probably damaging	1.00
R7717:Lss	UTSW	10	76545452	missense	possibly damaging	0.88
R8263:Lss	UTSW	10	76531905	missense	probably damaging	1.00
R8350:Lss	UTSW	10	76535595	missense	probably damaging	1.00
R8450:Lss	UTSW	10	76535595	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGACTCAAGTGCCAAGTTAAAGCC -3'
(R):5'- TTTTCCCAGTGTTCCAATGAGAGGTG -3'

Sequencing Primer
(F):5'- ACATGACTAAACTTTCCCTGGGTG -3'
(R):5'- GCATCTTACTAATTCCCATTTACCAG -3'

Posted On

2014-03-14