Mutagenetix > Incidental Mutation

Incidental Mutation 'R4020:Lss'

312743

Institutional Source

Beutler Lab

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

Osc, D10Ertd116e, 2810025N20Rik

MMRRC Submission

040954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76367422-76392972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76383278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 526 (M526T)

Ref Sequence

ENSEMBL: ENSMUSP00000046856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048678] [ENSMUST00000163049]

AlphaFold

Q8BLN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048678
AA Change: M526T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: M526T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163049

Meta Mutation Damage Score

0.7306

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	C	8: 89,035,362 (GRCm39)	V89L	probably benign	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,369,388 (GRCm39)	T206I	probably benign	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Apob	C	T	12: 8,044,914 (GRCm39)	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,066,724 (GRCm39)		probably benign	Het
C1ra	A	T	6: 124,496,736 (GRCm39)	T391S	probably benign	Het
Catsperg2	C	A	7: 29,416,429 (GRCm39)	D328Y	probably damaging	Het
Ciapin1	G	T	8: 95,555,814 (GRCm39)	L119M	probably damaging	Het
Crhr2	A	G	6: 55,077,765 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,406,407 (GRCm39)	S455P	probably benign	Het
Dctn4	G	A	18: 60,671,329 (GRCm39)		probably benign	Het
Defa25	C	T	8: 21,575,245 (GRCm39)	R75C	probably benign	Het
Dnajc10	T	C	2: 80,175,296 (GRCm39)	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,482,292 (GRCm39)	F185L	probably damaging	Het
Dock9	T	C	14: 121,844,267 (GRCm39)	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,422 (GRCm39)	L302R	possibly damaging	Het
Efcab5	C	T	11: 76,994,930 (GRCm39)	V1214I	probably benign	Het
Erich3	G	A	3: 154,419,686 (GRCm39)	R260H	probably damaging	Het
Fam168b	T	C	1: 34,867,860 (GRCm39)	T47A	possibly damaging	Het
Gorasp1	G	A	9: 119,757,936 (GRCm39)	R290C	probably benign	Het
Gtf2a1	A	G	12: 91,539,351 (GRCm39)	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,693 (GRCm39)	I446V	probably benign	Het
Krtap5-1	T	C	7: 141,850,094 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,764,804 (GRCm39)	I17L	probably benign	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,767,454 (GRCm39)	T221A	probably benign	Het
Muc21	T	C	17: 35,930,953 (GRCm39)		probably benign	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nfrkb	T	A	9: 31,325,407 (GRCm39)	L950Q	possibly damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or5b105	T	G	19: 13,079,790 (GRCm39)	K287Q	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pitrm1	A	G	13: 6,606,723 (GRCm39)	H259R	probably damaging	Het
Pllp	C	A	8: 95,406,072 (GRCm39)	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,926 (GRCm39)	T334A	probably benign	Het
Prep	T	C	10: 44,968,894 (GRCm39)		probably benign	Het
Ptprz1	C	A	6: 22,959,623 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,455,390 (GRCm39)	S170G	probably damaging	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,954,638 (GRCm39)	K56R	probably benign	Het
Ubr4	T	G	4: 139,179,116 (GRCm39)	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,151,182 (GRCm39)	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,405,816 (GRCm39)	N262K	probably benign	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably 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
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
R5056:Lss	UTSW	10	76,388,760 (GRCm39)	splice site	probably null
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'- TGCCATAGCATAGGTGTGC -3'
(R):5'- AGCATCTGAAACTGTCCCTGC -3'

Sequencing Primer
(F):5'- CATAGGTGTGCAGGTCTCAC -3'
(R):5'- GAAACTGTCCCTGCATTTACTCAAG -3'

Posted On

2015-04-30