Incidental Mutation 'IGL03059:Lss'
ID 409392
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 # IGL03059
Quality Score
Status
Chromosome 10
Chromosomal Location 76367422-76392972 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 76367860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048678]
AlphaFold Q8BLN5
Predicted Effect probably benign
Transcript: ENSMUST00000048678
SMART Domains Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105

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: 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,717,755 (GRCm39) V244A possibly damaging Het
Aoc1l3 A T 6: 48,964,349 (GRCm39) Y119F probably benign Het
Ccdc187 C A 2: 26,184,253 (GRCm39) R48M probably null Het
Cnga2 G A X: 71,051,878 (GRCm39) R251H probably damaging Het
Cop1 A C 1: 159,134,279 (GRCm39) K174Q probably damaging Het
Cul9 T C 17: 46,849,913 (GRCm39) D512G probably damaging Het
Flt4 G A 11: 49,533,134 (GRCm39) A1140T probably damaging Het
Galnt3 C T 2: 65,923,954 (GRCm39) R438H probably damaging Het
Gatm G A 2: 122,440,181 (GRCm39) A86V probably damaging Het
Klhl28 C T 12: 64,998,340 (GRCm39) A385T probably benign Het
Klhl40 T A 9: 121,607,203 (GRCm39) V121E probably damaging Het
L1cam T A X: 72,910,630 (GRCm39) H30L probably benign Het
Mrnip A T 11: 50,090,596 (GRCm39) Q253H probably damaging Het
Mroh9 A T 1: 162,852,205 (GRCm39) F828Y possibly damaging Het
Mst1 T C 9: 107,962,012 (GRCm39) C668R probably damaging Het
Nadk A G 4: 155,671,253 (GRCm39) E143G probably benign Het
Nap1l4 C T 7: 143,080,902 (GRCm39) probably null Het
Nme8 A G 13: 19,836,414 (GRCm39) I254T possibly damaging Het
Or14c41 A G 7: 86,234,779 (GRCm39) I99V probably benign Het
Or1ab2 T A 8: 72,863,842 (GRCm39) L144Q probably damaging Het
Or2y12 A G 11: 49,426,021 (GRCm39) Y3C probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkd1l3 C T 8: 110,374,999 (GRCm39) L1491F probably damaging Het
Plec G T 15: 76,059,968 (GRCm39) T3488N probably damaging Het
Plk2 T G 13: 110,535,668 (GRCm39) S497A probably benign Het
Polr1a G A 6: 71,913,496 (GRCm39) V617I probably benign Het
Prelid3a C A 18: 67,609,909 (GRCm39) Y112* probably null Het
Rnf113a2 C A 12: 84,464,250 (GRCm39) S47R possibly damaging Het
Rtel1 A G 2: 180,991,976 (GRCm39) N410D probably benign Het
Ryr3 C T 2: 112,630,392 (GRCm39) A2140T probably damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Sphkap T A 1: 83,234,963 (GRCm39) Q1621L probably damaging Het
Trgc1 A T 13: 19,400,072 (GRCm39) K123* probably null Het
Ttn T A 2: 76,739,863 (GRCm39) S3559C probably benign Het
Ubr4 C T 4: 139,207,987 (GRCm39) R4923W probably damaging Het
Vac14 T C 8: 111,437,084 (GRCm39) L599P probably damaging Het
Wdr5 T C 2: 27,409,746 (GRCm39) probably benign 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
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 2016-08-02