Incidental Mutation 'R1863:Lipo1'
ID204176
Institutional Source Beutler Lab
Gene Symbol Lipo1
Ensembl Gene ENSMUSG00000024766
Gene Namelipase, member O1
Synonyms
MMRRC Submission 039886-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R1863 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location33517740-33590308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33784692 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 135 (F135S)
Ref Sequence ENSEMBL: ENSMUSP00000136249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178735]
Predicted Effect probably benign
Transcript: ENSMUST00000148137
SMART Domains Protein: ENSMUSP00000118385
Gene: ENSMUSG00000079342

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 probably damaging
Transcript: ENSMUST00000178735
AA Change: F135S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136249
Gene: ENSMUSG00000079342
AA Change: F135S

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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.0%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,228,593 I2108V probably benign Het
A2ml1 A T 6: 128,550,783 S1015T probably damaging Het
Adamts10 T A 17: 33,551,432 probably null Het
Adgrv1 G A 13: 81,563,566 T1097I probably damaging Het
Apeh T C 9: 108,092,103 Y274C possibly damaging Het
Apobec3 A G 15: 79,897,867 D26G possibly damaging Het
Arg2 C T 12: 79,150,020 Q172* probably null Het
Asb18 C T 1: 90,014,382 V66I probably benign Het
Cacna1i G A 15: 80,358,931 G430S probably damaging Het
Cadps A G 14: 12,449,802 S1136P possibly damaging Het
Cadps A G 14: 12,505,796 V758A probably benign Het
Calhm3 A G 19: 47,152,100 W185R probably damaging Het
Car5b T C X: 163,991,373 D146G probably damaging Het
Card10 G A 15: 78,780,514 R747W probably damaging Het
Cd300lg T G 11: 102,041,604 V5G probably damaging Het
Cd46 C A 1: 195,083,623 G145C probably damaging Het
Chit1 T C 1: 134,151,250 S433P probably damaging Het
Cntrl G A 2: 35,118,119 E182K possibly damaging Het
Col6a5 T A 9: 105,940,201 M304L unknown Het
Cpxm2 C T 7: 132,143,663 probably null Het
Dbf4 G A 5: 8,397,375 Q612* probably null Het
Dnah11 G C 12: 118,063,852 Q1835E possibly damaging Het
Ehbp1l1 A T 19: 5,717,854 N1140K probably benign Het
Eps8l1 C A 7: 4,465,360 probably benign Het
Fbxl21 A T 13: 56,527,063 I76L probably benign Het
Gcnt2 A T 13: 40,861,101 K249N possibly damaging Het
Gm11487 A T 4: 73,401,800 Y247* probably null Het
Gm5819 A G 18: 8,694,179 T35A probably benign Het
Gm8180 T C 14: 43,783,682 E23G probably benign Het
Gorab A G 1: 163,403,562 F8L probably damaging Het
Hlf A G 11: 90,340,826 L274S probably damaging Het
Il15ra T A 2: 11,723,436 S137T possibly damaging Het
Krt78 A T 15: 101,946,569 C936S possibly damaging Het
Lamb2 T C 9: 108,481,384 S207P probably benign Het
Lce1a1 T C 3: 92,646,811 S119G unknown Het
Lrp4 T A 2: 91,498,363 L1536Q probably benign Het
Lrrc25 T C 8: 70,617,946 S126P possibly damaging Het
Mbd3l2 T C 9: 18,444,921 S181P possibly damaging Het
Mss51 C T 14: 20,484,868 R278H probably damaging Het
Myom3 G A 4: 135,778,037 M412I probably benign Het
Naa25 T C 5: 121,435,548 V780A probably benign Het
Naip6 A T 13: 100,300,559 F485L probably benign Het
Notch1 T C 2: 26,469,950 Y1251C probably damaging Het
Npas3 A G 12: 54,068,826 N826D probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1247 A T 2: 89,609,709 L131* probably null Het
Olfr1260 A T 2: 89,978,410 I211F probably benign Het
Olfr143 T G 9: 38,253,720 M101R probably damaging Het
Olfr285 G T 15: 98,313,491 Q20K probably benign Het
Olfr328 T C 11: 58,552,023 Y72C probably benign Het
Olfr480 A C 7: 108,066,725 Y24* probably null Het
Olfr798 T C 10: 129,625,348 T238A probably damaging Het
Osbpl6 G A 2: 76,585,058 R588H probably damaging Het
Pcdhb17 A T 18: 37,486,111 D318V probably benign Het
Pcnx2 T A 8: 125,818,786 E1162V probably damaging Het
Pde2a G A 7: 101,511,154 R845H probably damaging Het
Pkhd1 G T 1: 20,551,020 R805S probably benign Het
Ppl T C 16: 5,087,980 K1484E possibly damaging Het
Pramel7 T C 2: 87,491,331 E120G probably benign Het
Prg4 T A 1: 150,460,669 D60V probably damaging Het
Prpf6 T A 2: 181,608,174 D42E possibly damaging Het
Rbm5 C T 9: 107,750,519 V408I possibly damaging Het
Rsrp1 G T 4: 134,924,077 D51Y unknown Het
Sec22a A G 16: 35,347,718 M141T probably damaging Het
Spryd3 A G 15: 102,117,659 S417P probably benign Het
Sptbn2 A G 19: 4,732,685 M550V possibly damaging Het
Sugt1 C T 14: 79,608,994 T157I probably damaging Het
Syne4 T C 7: 30,316,883 V168A probably benign Het
Tas2r122 A T 6: 132,711,102 L276* probably null Het
Tbc1d14 G A 5: 36,507,693 S231F probably damaging Het
Tenm3 T A 8: 48,276,346 I1526F probably benign Het
Tgm2 C T 2: 158,124,219 C505Y probably damaging Het
Thop1 T C 10: 81,073,317 Y61H probably damaging Het
Ticam1 G A 17: 56,271,436 H220Y probably damaging Het
Tle6 T C 10: 81,591,921 D500G possibly damaging Het
Tm6sf2 T A 8: 70,079,725 L345Q probably damaging Het
Tnxb T C 17: 34,670,874 C114R probably damaging Het
Topors G T 4: 40,262,149 C378* probably null Het
Ttc6 G A 12: 57,714,095 G1544R probably benign Het
Vmn2r4 A T 3: 64,406,989 N190K probably benign Het
Wdr70 C A 15: 7,920,573 V447F probably benign Het
Xpa A G 4: 46,155,730 probably benign Het
Xrcc1 T C 7: 24,570,575 S474P possibly damaging Het
Zfp658 T G 7: 43,573,899 F533V possibly damaging Het
Zfp799 G A 17: 32,819,400 H631Y probably damaging 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
IGL03005:Lipo1 APN 19 33785736 missense possibly damaging 0.65
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
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
R7672:Lipo1 UTSW 19 33780385 missense probably benign 0.23
R7796:Lipo1 UTSW 19 33782234 missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- CAGACATCGGTGAGCCTTTTG -3'
(R):5'- GCCCCAAAGATGGTAGTATTTTG -3'

Sequencing Primer
(F):5'- AAGGCATTTGTTACCAAGCTGG -3'
(R):5'- CCCAAAGATGGTAGTATTTTGTCTCC -3'
Posted On2014-06-23