Incidental Mutation 'IGL03389:Lss'
ID420993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lss
Ensembl Gene ENSMUSG00000033105
Gene Namelanosterol synthase
Synonyms2810025N20Rik, Osc, D10Ertd116e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03389
Quality Score
Status
Chromosome10
Chromosomal Location76531588-76557138 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 76536339 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 176 (R176H)
Ref Sequence ENSEMBL: ENSMUSP00000046856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048678]
Predicted Effect probably damaging
Transcript: ENSMUST00000048678
AA Change: R176H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046856
Gene: ENSMUSG00000033105
AA Change: R176H

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,210,349 V559E possibly damaging Het
Alpk2 G T 18: 65,304,866 P1619Q possibly damaging Het
Amz1 C A 5: 140,752,027 F347L probably benign Het
Ank1 T C 8: 23,088,060 probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Cdc16 A G 8: 13,759,179 Y48C probably damaging Het
Cul2 A G 18: 3,431,029 D538G probably benign Het
Cyp2j13 T A 4: 96,068,321 I184F probably damaging Het
Cyp4a12b A T 4: 115,433,808 R344S possibly damaging Het
Dis3 A G 14: 99,095,347 probably benign Het
Dnah17 T C 11: 118,094,979 H1424R probably damaging Het
Eef2 A G 10: 81,179,706 I354V probably benign Het
Elmo1 A G 13: 20,342,426 D382G probably damaging Het
Epas1 T A 17: 86,823,703 S304T probably benign Het
Fry A T 5: 150,394,231 D892V probably damaging Het
Gprc5a G T 6: 135,083,825 D355Y possibly damaging Het
Hsd17b7 G A 1: 169,959,751 T228I probably damaging Het
Ift74 T C 4: 94,621,912 V60A possibly damaging Het
Insrr A T 3: 87,808,731 I578F probably damaging Het
Izumo1 T C 7: 45,624,189 F122S probably damaging Het
Ltb T C 17: 35,195,068 S61P probably benign Het
Maats1 C T 16: 38,324,136 probably null Het
Mybphl T C 3: 108,375,718 V274A probably benign Het
Myo9a T G 9: 59,869,607 L1096W probably damaging Het
Nlrc5 T A 8: 94,521,474 L1690H probably damaging Het
Nrap A T 19: 56,351,716 S790T probably benign Het
Nrcam A G 12: 44,549,906 D308G probably benign Het
Olfr346 A G 2: 36,688,262 T87A probably benign Het
Olfr518 G A 7: 108,880,775 T277M probably damaging Het
Pias2 A G 18: 77,097,658 D138G probably damaging Het
Prpf4b T C 13: 34,900,456 probably benign Het
Rapgef3 A G 15: 97,749,516 S788P probably damaging Het
Slc5a6 T C 5: 31,037,477 Y525C probably damaging Het
Snx32 T C 19: 5,496,054 probably benign Het
Tnfaip3 T C 10: 19,004,987 E444G probably benign Het
Ttc27 T C 17: 74,858,033 Y745H probably benign Het
Other mutations in Lss
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 unclassified 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
R7717:Lss UTSW 10 76545452 missense possibly damaging 0.88
Posted On2016-08-02