Incidental Mutation 'IGL01731:Lipo4'
ID105468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipo4
Ensembl Gene ENSMUSG00000079344
Gene Namelipase, member O4
SynonymsGm6857
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL01731
Quality Score
Status
Chromosome19
Chromosomal Location33498037-33517780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33512613 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 163 (Q163L)
Ref Sequence ENSEMBL: ENSMUSP00000108130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112511]
Predicted Effect probably damaging
Transcript: ENSMUST00000112511
AA Change: Q163L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108130
Gene: ENSMUSG00000079344
AA Change: Q163L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Abhydro_lipase 35 97 3e-24 PFAM
Pfam:Hydrolase_4 74 239 4.7e-8 PFAM
Pfam:Abhydrolase_1 78 214 2.5e-16 PFAM
Pfam:Abhydrolase_5 78 372 1.1e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000143522
AA Change: Q164L
SMART Domains Protein: ENSMUSP00000121321
Gene: ENSMUSG00000079344
AA Change: Q164L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Abhydro_lipase 37 99 1.3e-24 PFAM
Pfam:Hydrolase_4 76 241 7.1e-9 PFAM
Pfam:Abhydrolase_1 80 214 8.8e-17 PFAM
Pfam:Abhydrolase_5 80 235 1.5e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,785,347 probably benign Het
Abca13 T C 11: 9,249,749 probably benign Het
Abcc6 G A 7: 46,002,610 P611L possibly damaging Het
Acsl6 A G 11: 54,350,559 E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 F337L possibly damaging Het
Alg1 C T 16: 5,244,519 R422C probably benign Het
Ankrd23 A G 1: 36,534,066 L75S probably damaging Het
Arid5b T C 10: 68,097,609 H578R probably damaging Het
Atp10a G T 7: 58,797,562 W684L probably benign Het
Bzw2 T C 12: 36,107,648 probably null Het
C2cd2 A T 16: 97,870,172 I509K probably damaging Het
Card11 T C 5: 140,882,302 T864A possibly damaging Het
Ces1f A G 8: 93,267,320 S278P possibly damaging Het
Chd8 T C 14: 52,212,654 I208V probably benign Het
Cstf2t T C 19: 31,084,338 S425P probably benign Het
Cxcl1 A G 5: 90,891,577 T60A probably benign Het
Diaph1 G T 18: 37,853,709 probably benign Het
Exoc3l T G 8: 105,292,955 K394T probably benign Het
Fabp4 T C 3: 10,205,233 probably benign Het
Fam234b T A 6: 135,211,905 F169L possibly damaging Het
Hectd1 C A 12: 51,802,810 D204Y possibly damaging Het
Hephl1 A T 9: 15,069,770 Y789N probably damaging Het
Igfbp6 C A 15: 102,144,817 N90K probably benign Het
Khdrbs1 A T 4: 129,725,669 D226E probably benign Het
Med13l T C 5: 118,742,407 I1188T probably benign Het
Mki67 T C 7: 135,696,549 E2252G probably benign Het
Nepn G T 10: 52,400,564 R132L probably benign Het
Nlrp9b T A 7: 20,023,417 L193* probably null Het
Ntn1 A G 11: 68,385,418 S235P probably damaging Het
Nup210l G T 3: 90,154,566 R684L probably damaging Het
Obp2b A G 2: 25,739,281 S154G possibly damaging Het
Olfr1129 A G 2: 87,575,938 T285A probably benign Het
Olfr1308 A G 2: 111,960,635 V146A probably benign Het
Olfr491 A T 7: 108,317,475 I194F probably benign Het
Olfr623 T A 7: 103,660,846 T135S probably benign Het
Polr3b A T 10: 84,631,840 R95* probably null Het
Prelid2 C T 18: 41,937,649 V40M probably benign Het
Ptprb T G 10: 116,372,876 L2205R probably damaging Het
R3hcc1l T C 19: 42,562,801 V79A probably benign Het
Rnf219 T C 14: 104,479,302 D545G probably damaging Het
Stam2 A G 2: 52,708,150 I259T probably damaging Het
Tdpoz4 A T 3: 93,796,882 N162I possibly damaging Het
Tuba3a A G 6: 125,282,758 V75A possibly damaging Het
Vmn2r73 A T 7: 85,857,549 *852K probably null Het
Wdr78 T C 4: 103,062,435 I139V probably benign Het
Zfp7 C T 15: 76,888,305 Q69* probably null Het
Zfp865 G T 7: 5,029,876 A287S probably benign Het
Zmpste24 T A 4: 121,097,884 Q39L probably benign Het
Other mutations in Lipo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Lipo4 APN 19 33515686 missense probably damaging 1.00
IGL01609:Lipo4 APN 19 33499254 missense probably benign 0.01
R0134:Lipo4 UTSW 19 33501606 missense probably benign 0.02
R0225:Lipo4 UTSW 19 33501606 missense probably benign 0.02
R1155:Lipo4 UTSW 19 33503195 missense probably benign
R1381:Lipo4 UTSW 19 33499341 missense probably benign 0.02
R1460:Lipo4 UTSW 19 33499318 missense probably benign
R1607:Lipo4 UTSW 19 33512673 missense probably damaging 1.00
R1777:Lipo4 UTSW 19 33499321 missense probably damaging 1.00
R1919:Lipo4 UTSW 19 33499271 missense possibly damaging 0.66
R1998:Lipo4 UTSW 19 33514301 missense probably damaging 0.98
R2088:Lipo4 UTSW 19 33500069 missense possibly damaging 0.95
R2112:Lipo4 UTSW 19 33511526 missense probably benign 0.07
R3931:Lipo4 UTSW 19 33503219 missense probably benign
R4588:Lipo4 UTSW 19 33499247 missense possibly damaging 0.82
R4869:Lipo4 UTSW 19 33501553 critical splice donor site probably null
R5406:Lipo4 UTSW 19 33503218 missense probably benign 0.00
R5640:Lipo4 UTSW 19 33501586 missense possibly damaging 0.92
R6160:Lipo4 UTSW 19 33503293 missense probably damaging 0.99
R6957:Lipo4 UTSW 19 33499367 missense probably benign 0.30
R7403:Lipo4 UTSW 19 33503279 missense possibly damaging 0.91
R7816:Lipo4 UTSW 19 33514242 missense probably damaging 1.00
R7847:Lipo4 UTSW 19 33514199 missense possibly damaging 0.95
R7868:Lipo4 UTSW 19 33511568 missense possibly damaging 0.68
R7890:Lipo4 UTSW 19 33501564 missense probably damaging 1.00
R7930:Lipo4 UTSW 19 33514199 missense possibly damaging 0.95
R7951:Lipo4 UTSW 19 33511568 missense possibly damaging 0.68
R7973:Lipo4 UTSW 19 33501564 missense probably damaging 1.00
X0028:Lipo4 UTSW 19 33503288 frame shift probably null
Posted On2014-01-21