Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:Lss'

594983

Institutional Source

Beutler Lab

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

2810025N20Rik, Osc, D10Ertd116e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76531588-76557138 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76545452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 424 (V424A)

Ref Sequence

ENSEMBL: ENSMUSP00000046856 (fasta)

Gene Model

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

AlphaFold

Q8BLN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048678
AA Change: V424A

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: V424A

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

probably benign
Transcript: ENSMUST00000163049

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly 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
R1426:Lss	UTSW	10	76536303	missense	probably damaging	0.98
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
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'- TGAGTCATGCAGCTCAGGAG -3'
(R):5'- GGGATAATGAAGCCCCTGACAC -3'

Sequencing Primer
(F):5'- CGCAAGAGTAGGTTGTTCACC -3'
(R):5'- CTGACACGAGGCATCTACAG -3'

Posted On

2019-11-12