Incidental Mutation 'R6140:Lss'
ID 488543
Institutional Source Beutler Lab
Gene Symbol Lss
Ensembl Gene ENSMUSG00000033105
Gene Name lanosterol synthase
Synonyms Osc, D10Ertd116e, 2810025N20Rik
MMRRC Submission 044287-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6140 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 76367422-76392972 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76386522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 642 (Y642H)
Ref Sequence ENSEMBL: ENSMUSP00000046856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048678]
AlphaFold Q8BLN5
Predicted Effect probably damaging
Transcript: ENSMUST00000048678
AA Change: Y642H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: Y642H

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9386 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.9%
  • 20x: 91.8%
Validation Efficiency 100% (46/46)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,055,923 (GRCm39) probably benign Het
Adgra2 A T 8: 27,605,433 (GRCm39) R593W probably damaging Het
Agfg2 T C 5: 137,665,347 (GRCm39) Q136R probably damaging Het
Ankrd42 T C 7: 92,241,036 (GRCm39) probably null Het
Baz2b T C 2: 59,742,871 (GRCm39) D1643G probably damaging Het
Ccdc171 C T 4: 83,614,554 (GRCm39) Q1060* probably null Het
Cela1 C T 15: 100,579,037 (GRCm39) R207H probably benign Het
Cfhr4 A G 1: 139,660,133 (GRCm39) V664A probably damaging Het
Clic6 A G 16: 92,336,380 (GRCm39) R563G probably damaging Het
Cspg4 A T 9: 56,804,508 (GRCm39) H1773L probably benign Het
Ddrgk1 A G 2: 130,500,534 (GRCm39) V204A probably benign Het
Dhrs7c A T 11: 67,705,900 (GRCm39) T218S probably damaging Het
Dlgap4 A T 2: 156,604,649 (GRCm39) probably null Het
Hgd A T 16: 37,410,075 (GRCm39) Y37F probably benign Het
Hmcn1 A C 1: 150,608,597 (GRCm39) N1528K probably damaging Het
Hps3 A G 3: 20,051,151 (GRCm39) F843S probably damaging Het
Ifih1 A G 2: 62,431,804 (GRCm39) F800S possibly damaging Het
Igsf21 T A 4: 139,834,684 (GRCm39) T63S probably benign Het
Il18rap T G 1: 40,564,212 (GRCm39) M110R probably benign Het
Kcnk2 G T 1: 188,942,104 (GRCm39) H384Q probably damaging Het
Lima1 C T 15: 99,678,939 (GRCm39) V341M probably damaging Het
Lins1 T C 7: 66,361,672 (GRCm39) L441P probably damaging Het
Mrc2 A G 11: 105,237,615 (GRCm39) T1098A probably benign Het
Nf1 T A 11: 79,364,146 (GRCm39) probably null Het
Nrdc G T 4: 108,906,308 (GRCm39) A730S probably damaging Het
Nup214 C T 2: 31,941,808 (GRCm39) T72I possibly damaging Het
Or6c213 T G 10: 129,574,523 (GRCm39) K88Q possibly damaging Het
Or8g33 A G 9: 39,337,543 (GRCm39) S275P possibly damaging Het
Or8k35 A T 2: 86,424,448 (GRCm39) C241* probably null Het
Oxt A G 2: 130,418,191 (GRCm39) Y21C probably damaging Het
Pla2g12b G A 10: 59,257,263 (GRCm39) probably benign Het
Ralgapb T C 2: 158,298,492 (GRCm39) V907A probably damaging Het
Rnls A T 19: 33,115,600 (GRCm39) D157E probably damaging Het
Slc7a14 C A 3: 31,291,697 (GRCm39) V194L probably benign Het
Slc7a7 G A 14: 54,616,515 (GRCm39) T189I probably damaging Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Ssh1 A G 5: 114,080,692 (GRCm39) Y891H probably benign Het
Suclg2 T C 6: 95,546,702 (GRCm39) D258G probably damaging Het
Tpk1 A T 6: 43,400,635 (GRCm39) M129K probably benign Het
Ubr3 A G 2: 69,803,673 (GRCm39) I1088V probably benign Het
Vmn1r3 A G 4: 3,185,031 (GRCm39) I92T probably damaging Het
Vmn2r69 G A 7: 85,060,657 (GRCm39) S309F probably damaging Het
Wsb1 A T 11: 79,132,444 (GRCm39) H325Q probably damaging Het
Zfp263 A G 16: 3,566,081 (GRCm39) S281G probably benign Het
Zfp507 A G 7: 35,493,613 (GRCm39) S477P probably damaging Het
Other mutations in Lss
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CATATCCACTCACTTCTGCAGG -3'
(R):5'- AGTCCTGTGGCTACTTTCAC -3'

Sequencing Primer
(F):5'- TCCCATGACCCTGAGGCAG -3'
(R):5'- AGTCCTGTGGCTACTTTCACATCTTC -3'
Posted On 2017-10-10