Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Lss'

282567

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lss

Ensembl Gene

ENSMUSG00000033105

Gene Name

lanosterol synthase

Synonyms

Osc, D10Ertd116e, 2810025N20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

76367422-76392972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76372094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000046856 (fasta)

Gene Model

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

AlphaFold

Q8BLN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048678
AA Change: S150P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: S150P

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

Coding Region Coverage

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Asxl2	A	G	12: 3,552,079 (GRCm39)	M1274V	probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
Ctc1	A	G	11: 68,916,922 (GRCm39)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Grb10	C	T	11: 11,893,962 (GRCm39)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Stau2	A	G	1: 16,416,052 (GRCm39)	L469P	probably damaging	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	probably null	Het

Other mutations in Lss

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16