Incidental Mutation 'IGL02852:Sqle'
ID361926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sqle
Ensembl Gene ENSMUSG00000022351
Gene Namesqualene epoxidase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02852
Quality Score
Status
Chromosome15
Chromosomal Location59315077-59331192 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59326071 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 380 (H380L)
Ref Sequence ENSEMBL: ENSMUSP00000098205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022977] [ENSMUST00000100640]
Predicted Effect probably damaging
Transcript: ENSMUST00000022977
AA Change: H412L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022977
Gene: ENSMUSG00000022351
AA Change: H412L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
Pfam:FAD_binding_3 121 434 1.4e-22 PFAM
Pfam:SE 275 546 1.3e-113 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100640
AA Change: H380L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098205
Gene: ENSMUSG00000022351
AA Change: H380L

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
Pfam:FAD_binding_3 121 344 3.4e-18 PFAM
Pfam:SE 275 370 3.5e-34 PFAM
Pfam:SE 365 514 5.7e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162142
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E8.5 with a phenotype consistent with that found in mice with mutations affecting cholesterol synthesis. Mice heterozygous the allele exhibit improved Rett syndrome phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm14226 G A 2: 155,024,921 S266N possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Gucy1a2 A G 9: 3,759,691 D499G probably benign Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Rnf39 T C 17: 36,945,202 probably benign Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Uba1y C T Y: 828,841 R550* probably null Het
Ubqln4 T C 3: 88,555,471 V81A probably damaging Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Sqle
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Sqle APN 15 59326619 missense probably damaging 1.00
IGL01396:Sqle APN 15 59323874 missense probably damaging 1.00
IGL03037:Sqle APN 15 59321397 missense probably damaging 1.00
PIT4431001:Sqle UTSW 15 59323660 missense probably benign 0.03
R1678:Sqle UTSW 15 59324509 missense probably damaging 1.00
R2047:Sqle UTSW 15 59326058 missense probably benign 0.08
R2075:Sqle UTSW 15 59323901 missense probably damaging 0.99
R2156:Sqle UTSW 15 59323729 critical splice donor site probably null
R4773:Sqle UTSW 15 59317839 missense possibly damaging 0.54
R4878:Sqle UTSW 15 59316085 missense probably benign 0.08
R4915:Sqle UTSW 15 59321369 nonsense probably null
R5439:Sqle UTSW 15 59330904 missense probably benign 0.02
R5936:Sqle UTSW 15 59330829 missense probably damaging 1.00
R6374:Sqle UTSW 15 59316110 missense possibly damaging 0.75
R7286:Sqle UTSW 15 59316052 missense probably benign 0.00
R7373:Sqle UTSW 15 59317809 missense probably benign
R7386:Sqle UTSW 15 59330754 missense probably benign 0.30
R7387:Sqle UTSW 15 59330754 missense probably benign 0.30
R7624:Sqle UTSW 15 59330754 missense probably benign 0.30
R7685:Sqle UTSW 15 59316041 missense probably benign 0.00
R7731:Sqle UTSW 15 59315972 missense probably benign 0.20
X0027:Sqle UTSW 15 59317823 missense probably benign 0.00
Posted On2015-12-18