Incidental Mutation 'IGL01697:Lipo3'
ID104313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipo3
Ensembl Gene ENSMUSG00000024766
Gene Namelipase, member O3
SynonymsLipo1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01697
Quality Score
Status
Chromosome19
Chromosomal Location33517740-33761951 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33559565 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 252 (C252S)
Ref Sequence ENSEMBL: ENSMUSP00000108127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025694] [ENSMUST00000112508]
Predicted Effect probably damaging
Transcript: ENSMUST00000025694
AA Change: C252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
AA Change: C252S

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 33 95 4.2e-24 PFAM
Pfam:Abhydrolase_1 76 213 7.3e-16 PFAM
Pfam:Abhydrolase_5 76 370 4.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112508
AA Change: C252S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108127
Gene: ENSMUSG00000024766
AA Change: C252S

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 33 95 8.8e-24 PFAM
Pfam:Abhydrolase_5 76 370 5.2e-12 PFAM
Pfam:Abhydrolase_6 77 384 8.5e-10 PFAM
Pfam:Abhydrolase_1 109 384 2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145807
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,119,156 probably benign Het
Arid2 A C 15: 96,361,572 probably null Het
Cadm1 C A 9: 47,850,324 D435E probably damaging Het
Dagla A G 19: 10,271,198 F33L probably benign Het
Edrf1 A G 7: 133,643,730 H199R probably benign Het
F5 T A 1: 164,194,052 N1365K probably benign Het
Fam205c T A 4: 42,874,163 M2L probably benign Het
Gipc2 T G 3: 152,137,608 I131L probably benign Het
Gpc1 C T 1: 92,858,410 S507F possibly damaging Het
Grid1 A G 14: 35,309,257 D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 M1K probably null Het
Kif5b T C 18: 6,226,871 H129R possibly damaging Het
Mast4 A C 13: 102,767,893 N645K probably damaging Het
Megf9 T A 4: 70,433,472 T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 D586G possibly damaging Het
Ninl A T 2: 150,939,947 L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 T37S probably benign Het
Olfr45 T C 7: 140,691,652 V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 C187F probably damaging Het
Oog2 T A 4: 144,195,184 N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 E181G probably benign Het
Scaf11 A C 15: 96,423,623 probably benign Het
Skint7 T A 4: 111,980,457 probably benign Het
Sox14 T C 9: 99,875,663 I8V probably benign Het
Stim1 A T 7: 102,425,969 probably benign Het
Ttc37 C T 13: 76,128,733 L479F probably benign Het
Ttll3 T C 6: 113,399,729 S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 probably benign Het
Other mutations in Lipo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Lipo3 APN 19 33580519 nonsense probably null
IGL02047:Lipo3 APN 19 33557162 missense probably benign 0.00
IGL02586:Lipo3 APN 19 33582139 missense possibly damaging 0.95
IGL03111:Lipo3 APN 19 33582237 missense probably damaging 0.96
IGL03404:Lipo3 APN 19 33583040 splice site probably benign
R0122:Lipo3 UTSW 19 33622686 intron probably benign
R0128:Lipo3 UTSW 19 33557106 critical splice donor site probably null
R0540:Lipo3 UTSW 19 33559567 missense possibly damaging 0.62
R0551:Lipo3 UTSW 19 33580551 missense probably damaging 1.00
R0568:Lipo3 UTSW 19 33582042 splice site probably benign
R0669:Lipo3 UTSW 19 33559625 missense probably benign 0.05
R2911:Lipo3 UTSW 19 33579367 missense probably benign 0.00
R3973:Lipo3 UTSW 19 33558323 missense probably damaging 1.00
R4660:Lipo3 UTSW 19 33620960 intron probably benign
R4820:Lipo3 UTSW 19 33583097 missense probably damaging 1.00
R5117:Lipo3 UTSW 19 33559552 missense probably benign
R5258:Lipo3 UTSW 19 33613843 intron probably benign
R6383:Lipo3 UTSW 19 33556431 missense probably benign 0.02
R6659:Lipo3 UTSW 19 33556428 missense possibly damaging 0.55
R6915:Lipo3 UTSW 19 33584893 missense probably damaging 1.00
R7092:Lipo3 UTSW 19 33613692 splice site probably null
R7444:Lipo3 UTSW 19 33558263 critical splice donor site probably null
R7532:Lipo3 UTSW 19 33583064 missense possibly damaging 0.90
R7945:Lipo3 UTSW 19 33556431 missense probably benign 0.02
Z1176:Lipo3 UTSW 19 33584928 missense probably null 0.97
Posted On2014-01-21