Mutagenetix > Incidental Mutation

Incidental Mutation 'R3700:Lss'

269963

Institutional Source

Beutler Lab

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

Osc, D10Ertd116e, 2810025N20Rik

MMRRC Submission

040693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76367422-76392972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76382026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 484 (L484Q)

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: L484Q

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

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: L484Q

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: ENSMUST00000162475

Predicted Effect

probably benign
Transcript: ENSMUST00000163049

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	A	18: 65,438,222 (GRCm39)	T1524I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arhgap26	T	A	18: 39,253,237 (GRCm39)	F221L	probably damaging	Het
Arhgap28	T	C	17: 68,208,361 (GRCm39)	S36G	probably damaging	Het
Bcl11a	A	G	11: 24,113,890 (GRCm39)	D411G	probably damaging	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Coro6	T	C	11: 77,358,129 (GRCm39)	F238S	probably damaging	Het
Ddah1	G	A	3: 145,597,250 (GRCm39)	M162I	probably benign	Het
Dnah5	T	C	15: 28,387,937 (GRCm39)	I3132T	possibly damaging	Het
Drgx	A	T	14: 32,350,818 (GRCm39)	E218V	probably damaging	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Eif3f	A	T	7: 108,539,482 (GRCm39)	I251F	probably benign	Het
Ephx4	T	C	5: 107,550,673 (GRCm39)	F11L	probably benign	Het
Esp1	T	C	17: 41,041,998 (GRCm39)	S97P	unknown	Het
Fbxw10	A	T	11: 62,759,983 (GRCm39)		probably null	Het
Hsp90ab1	T	C	17: 45,882,440 (GRCm39)	T85A	possibly damaging	Het
Idh2	T	C	7: 79,748,895 (GRCm39)	K129E	probably damaging	Het
Kcnj6	A	G	16: 94,633,865 (GRCm39)	I64T	probably damaging	Het
Klk1b5	T	A	7: 43,500,251 (GRCm39)	C280S	probably damaging	Het
Lhx2	T	A	2: 38,250,111 (GRCm39)	L269H	probably damaging	Het
Lrrc71	T	A	3: 87,653,185 (GRCm39)		probably null	Het
Mmp14	G	A	14: 54,669,389 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Mysm1	T	C	4: 94,858,889 (GRCm39)	K87E	probably benign	Het
Or6d13	T	A	6: 116,517,489 (GRCm39)	V25E	probably benign	Het
Or6f2	C	G	7: 139,756,127 (GRCm39)	F37L	possibly damaging	Het
Pcolce	T	C	5: 137,607,309 (GRCm39)	T61A	probably damaging	Het
Phc3	C	A	3: 30,968,277 (GRCm39)	D920Y	probably damaging	Het
Pi4kb	T	C	3: 94,901,599 (GRCm39)	I422T	probably benign	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Plce1	T	A	19: 38,693,781 (GRCm39)	F768Y	probably damaging	Het
Ppp1r21	T	C	17: 88,889,882 (GRCm39)	S709P	possibly damaging	Het
Prdx6	T	C	1: 161,074,858 (GRCm39)	D74G	probably damaging	Het
Rlf	A	G	4: 121,008,060 (GRCm39)	F307L	possibly damaging	Het
Skic2	T	C	17: 35,068,879 (GRCm39)	E40G	probably benign	Het
Snapin	G	A	3: 90,397,499 (GRCm39)	R91*	probably null	Het
Sort1	T	A	3: 108,263,955 (GRCm39)	L838*	probably null	Het
Sstr4	A	G	2: 148,238,273 (GRCm39)	I295V	possibly damaging	Het
Stk39	T	A	2: 68,222,462 (GRCm39)	I201F	probably damaging	Het
Tasp1	T	C	2: 139,752,474 (GRCm39)	T322A	probably benign	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Tlr9	G	A	9: 106,101,278 (GRCm39)	V190M	probably damaging	Het
Ttf2	A	G	3: 100,858,324 (GRCm39)	L755P	probably damaging	Het
Txn2	G	A	15: 77,811,976 (GRCm39)	T60M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,287 (GRCm39)	N293S	probably benign	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r111	C	T	17: 22,790,142 (GRCm39)	W288*	probably null	Het
Vmn2r118	T	C	17: 55,915,421 (GRCm39)	S510G	possibly damaging	Het
Zgpat	T	A	2: 181,007,439 (GRCm39)		probably benign	Het
Zzef1	G	T	11: 72,777,598 (GRCm39)	G1810C	probably null	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
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
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'- CTGCGCCCAATTTAGGTACC -3'
(R):5'- CGGGCTAGGCACTGTATCTTATAG -3'

Sequencing Primer
(F):5'- CAATTTAGGTACCCCTGTGCGG -3'
(R):5'- ATAGTGCAGAGCCTTCGTAC -3'

Posted On

2015-03-18