Incidental Mutation 'IGL03005:Lipo1'
ID407504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipo1
Ensembl Gene ENSMUSG00000024766
Gene Namelipase, member O1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL03005
Quality Score
Status
Chromosome19
Chromosomal Location33517740-33590308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33785736 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 36 (I36V)
Ref Sequence ENSEMBL: ENSMUSP00000136249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178735]
Predicted Effect unknown
Transcript: ENSMUST00000148137
AA Change: I39V
SMART Domains Protein: ENSMUSP00000118385
Gene: ENSMUSG00000079342
AA Change: I39V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 37 99 2.8e-21 PFAM
Pfam:Hydrolase_4 76 239 4.3e-8 PFAM
Pfam:Abhydrolase_1 80 219 2.2e-17 PFAM
Pfam:Abhydrolase_5 80 233 8.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000178735
AA Change: I36V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136249
Gene: ENSMUSG00000079342
AA Change: I36V

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 33 95 1.3e-20 PFAM
Pfam:Hydrolase_4 72 231 3.5e-8 PFAM
Pfam:Abhydrolase_5 76 370 3.7e-10 PFAM
Pfam:Abhydrolase_1 76 376 6.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 A T 1: 177,067,227 V268E probably damaging Het
Apob A G 12: 7,993,059 probably benign Het
Arhgap19 T C 19: 41,784,417 probably benign Het
C2cd2 A G 16: 97,859,432 L672P probably damaging Het
Cars A G 7: 143,559,169 F774L probably damaging Het
Cd200r3 T A 16: 44,953,610 S128R probably damaging Het
Chd9 A G 8: 91,011,447 N1569S probably damaging Het
Chmp7 G A 14: 69,719,828 R294C probably damaging Het
Col10a1 A T 10: 34,395,738 I569F probably damaging Het
Cspg4 T A 9: 56,888,488 V1169D probably damaging Het
Doxl2 T A 6: 48,976,546 Y468* probably null Het
Emg1 G A 6: 124,704,594 T229I probably damaging Het
Fmo9 C T 1: 166,674,519 S179N probably benign Het
Frem1 T C 4: 82,994,134 Y667C probably damaging Het
Gm21949 C A 3: 68,618,677 Q395K possibly damaging Het
Gpsm2 A G 3: 108,687,006 probably benign Het
Gsdma A T 11: 98,676,259 E395V probably damaging Het
Gsdmd C T 15: 75,867,166 T464M possibly damaging Het
Lrrtm1 A G 6: 77,244,156 S199G probably damaging Het
Lypla1 C T 1: 4,832,390 probably benign Het
Mst1r C T 9: 107,914,549 Q809* probably null Het
Mtr T A 13: 12,235,449 probably benign Het
Olfr1238 G A 2: 89,406,971 T36I possibly damaging Het
Pax7 T A 4: 139,828,696 I156F probably damaging Het
Pcdhb8 T A 18: 37,357,534 L755Q probably damaging Het
Pdzd2 G A 15: 12,385,265 P1140S probably damaging Het
Pdzrn4 T C 15: 92,770,391 L808P probably damaging Het
Pex1 G T 5: 3,630,292 Q971H probably null Het
Pld1 T A 3: 28,087,253 V655E possibly damaging Het
Pnpla3 C T 15: 84,174,268 R163W probably damaging Het
Rabgef1 T C 5: 130,208,797 L237P probably damaging Het
Setbp1 A T 18: 78,859,125 N442K possibly damaging Het
Sorl1 T G 9: 42,057,325 D544A probably damaging Het
Spire2 C A 8: 123,363,368 P490T probably benign Het
Tmem8 C T 17: 26,118,937 L432F probably benign Het
Zeb1 T A 18: 5,767,150 S554T probably benign Het
Other mutations in Lipo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01521:Lipo1 APN 19 33785683 missense probably damaging 1.00
IGL01916:Lipo1 APN 19 33784782 missense probably damaging 1.00
R0646:Lipo1 UTSW 19 33784769 nonsense probably null
R1704:Lipo1 UTSW 19 33780343 missense possibly damaging 0.87
R1772:Lipo1 UTSW 19 33787421 missense probably benign 0.45
R1862:Lipo1 UTSW 19 33784692 missense probably damaging 1.00
R1863:Lipo1 UTSW 19 33784692 missense probably damaging 1.00
R3801:Lipo1 UTSW 19 33784857 missense probably damaging 0.99
R3802:Lipo1 UTSW 19 33784857 missense probably damaging 0.99
R3803:Lipo1 UTSW 19 33784857 missense probably damaging 0.99
R4020:Lipo1 UTSW 19 33787404 missense probably benign 0.00
R4648:Lipo1 UTSW 19 33783460 missense probably damaging 1.00
R4775:Lipo1 UTSW 19 33780395 missense probably damaging 1.00
R4787:Lipo1 UTSW 19 33780349 missense probably benign 0.00
R4830:Lipo1 UTSW 19 33776587 missense probably damaging 0.99
R4951:Lipo1 UTSW 19 33782221 missense probably benign 0.01
R5799:Lipo1 UTSW 19 33777693 intron probably benign
R5853:Lipo1 UTSW 19 33782230 missense probably benign 0.37
R6235:Lipo1 UTSW 19 33783563 missense probably damaging 0.96
R6296:Lipo1 UTSW 19 33780337 missense probably benign 0.10
R6913:Lipo1 UTSW 19 33780305 missense probably benign 0.00
Posted On2016-08-02