Incidental Mutation 'IGL01897:Lipm'
ID179438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipm
Ensembl Gene ENSMUSG00000056078
Gene Namelipase, family member M
SynonymsLipl3, 4632427C23Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.309) question?
Stock #IGL01897
Quality Score
Status
Chromosome19
Chromosomal Location34100943-34122687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34121308 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 394 (D394V)
Ref Sequence ENSEMBL: ENSMUSP00000025685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025685] [ENSMUST00000025686]
Predicted Effect probably damaging
Transcript: ENSMUST00000025685
AA Change: D394V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025685
Gene: ENSMUSG00000056078
AA Change: D394V

DomainStartEndE-ValueType
Pfam:Abhydro_lipase 49 111 3.3e-26 PFAM
Pfam:Abhydrolase_1 92 393 2.6e-29 PFAM
Pfam:Abhydrolase_5 93 387 2.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025686
SMART Domains Protein: ENSMUSP00000025686
Gene: ENSMUSG00000024774

DomainStartEndE-ValueType
ANK 39 68 1.1e-6 SMART
ANK 72 130 2.05e2 SMART
ANK 134 163 1.68e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160474
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,418,288 Y21H possibly damaging Het
Adamts15 A T 9: 30,902,152 S906T probably damaging Het
Brat1 A G 5: 140,717,915 D641G probably benign Het
Ccdc42 G A 11: 68,594,275 R205H probably benign Het
Cdadc1 T C 14: 59,592,537 probably null Het
Cfi T C 3: 129,858,385 V235A probably damaging Het
Ctps T A 4: 120,567,279 D46V probably damaging Het
Cyb5d1 A T 11: 69,393,761 D188E probably benign Het
Cyp19a1 G T 9: 54,168,529 T414N probably benign Het
Cyp2c40 A T 19: 39,803,773 C242* probably null Het
Eif3b A T 5: 140,425,447 T218S possibly damaging Het
Fasn A T 11: 120,807,939 L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Heyl A T 4: 123,246,607 I320F probably damaging Het
Itpr3 T A 17: 27,111,262 V1618E probably damaging Het
Kif7 A T 7: 79,701,052 I1007N probably damaging Het
Lat2 A G 5: 134,606,627 probably benign Het
Lmbrd1 T A 1: 24,743,896 I307K possibly damaging Het
Mief1 T C 15: 80,248,508 probably benign Het
Mta2 C T 19: 8,947,766 Q333* probably null Het
Neb T A 2: 52,280,575 E1695V possibly damaging Het
Npc1l1 A T 11: 6,227,879 N510K probably benign Het
Olfr312 T C 11: 58,831,639 F162L probably damaging Het
P2rx3 A C 2: 85,023,481 probably benign Het
Pdgfc A G 3: 81,204,332 E198G possibly damaging Het
Pkdcc T A 17: 83,220,119 I242N probably damaging Het
Pkn3 C T 2: 30,082,812 probably benign Het
Rcan2 T G 17: 43,836,434 D54E probably damaging Het
Tmeff2 T A 1: 51,132,210 Y202N probably damaging Het
Unc13c A G 9: 73,546,027 L1827P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc15a G T 2: 164,199,976 Q21K probably benign Het
Zfp951 C A 5: 104,815,283 S139I probably benign Het
Other mutations in Lipm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Lipm APN 19 34121145 missense probably damaging 1.00
IGL01789:Lipm APN 19 34118747 missense probably damaging 1.00
IGL01878:Lipm APN 19 34116511 missense possibly damaging 0.63
IGL02713:Lipm APN 19 34101170 start codon destroyed probably null 0.77
R0029:Lipm UTSW 19 34116548 splice site probably benign
R0352:Lipm UTSW 19 34112875 splice site probably benign
R0565:Lipm UTSW 19 34116506 missense probably benign 0.00
R0815:Lipm UTSW 19 34118761 missense probably benign 0.13
R1658:Lipm UTSW 19 34116447 missense probably benign
R2990:Lipm UTSW 19 34116486 missense probably benign 0.03
R4758:Lipm UTSW 19 34101170 start codon destroyed possibly damaging 0.59
R5446:Lipm UTSW 19 34117887 missense possibly damaging 0.92
R5468:Lipm UTSW 19 34109554 splice site probably null
R5905:Lipm UTSW 19 34111911 missense probably benign
R6066:Lipm UTSW 19 34112974 missense probably damaging 1.00
R6437:Lipm UTSW 19 34121257 missense probably damaging 1.00
R6722:Lipm UTSW 19 34121265 missense probably benign 0.00
R6927:Lipm UTSW 19 34101163 start gained probably benign
R7007:Lipm UTSW 19 34112097 missense probably damaging 1.00
R7031:Lipm UTSW 19 34116471 missense probably benign
R7081:Lipm UTSW 19 34121323 missense possibly damaging 0.90
R7092:Lipm UTSW 19 34121358 missense possibly damaging 0.75
R7419:Lipm UTSW 19 34116481 missense probably benign 0.09
R7426:Lipm UTSW 19 34116198 missense possibly damaging 0.56
R7772:Lipm UTSW 19 34117891 missense probably damaging 0.99
Posted On2014-05-07