Incidental Mutation 'IGL01789:Lipm'
ID 155153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipm
Ensembl Gene ENSMUSG00000056078
Gene Name lipase, family member M
Synonyms 4632427C23Rik, Lipl3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.594) question?
Stock # IGL01789
Quality Score
Status
Chromosome 19
Chromosomal Location 34078343-34100087 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34096147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 321 (D321G)
Ref Sequence ENSEMBL: ENSMUSP00000025685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025685] [ENSMUST00000025686]
AlphaFold Q8K2A6
Predicted Effect probably damaging
Transcript: ENSMUST00000025685
AA Change: D321G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025685
Gene: ENSMUSG00000056078
AA Change: D321G

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm C T 5: 90,673,443 (GRCm39) P232S probably benign Het
Atp11b A T 3: 35,843,741 (GRCm39) Q81L possibly damaging Het
Cgn G A 3: 94,683,528 (GRCm39) P413S possibly damaging Het
Eps8 C T 6: 137,516,364 (GRCm39) M5I probably benign Het
Fam83h A T 15: 75,877,969 (GRCm39) M143K probably damaging Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hmcn1 C T 1: 150,566,352 (GRCm39) C2217Y probably damaging Het
Leo1 T C 9: 75,361,896 (GRCm39) probably benign Het
Nos2 C T 11: 78,835,483 (GRCm39) probably benign Het
Phtf2 T C 5: 20,999,372 (GRCm39) Y257C probably benign Het
Rnpep T C 1: 135,195,833 (GRCm39) K359E possibly damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r130 T A 6: 131,607,118 (GRCm39) S226C probably damaging Het
Tpbg A T 9: 85,726,954 (GRCm39) M308L probably benign Het
Trip11 G A 12: 101,838,090 (GRCm39) S1715L probably benign Het
Unc13b T A 4: 43,239,462 (GRCm39) N3508K probably damaging Het
Utp20 A T 10: 88,634,141 (GRCm39) probably null Het
Wdhd1 A T 14: 47,512,274 (GRCm39) M39K probably benign Het
Other mutations in Lipm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Lipm APN 19 34,098,545 (GRCm39) missense probably damaging 1.00
IGL01878:Lipm APN 19 34,093,911 (GRCm39) missense possibly damaging 0.63
IGL01897:Lipm APN 19 34,098,708 (GRCm39) missense probably damaging 1.00
IGL02713:Lipm APN 19 34,078,570 (GRCm39) start codon destroyed probably null 0.77
R0029:Lipm UTSW 19 34,093,948 (GRCm39) splice site probably benign
R0352:Lipm UTSW 19 34,090,275 (GRCm39) splice site probably benign
R0565:Lipm UTSW 19 34,093,906 (GRCm39) missense probably benign 0.00
R0815:Lipm UTSW 19 34,096,161 (GRCm39) missense probably benign 0.13
R1658:Lipm UTSW 19 34,093,847 (GRCm39) missense probably benign
R2990:Lipm UTSW 19 34,093,886 (GRCm39) missense probably benign 0.03
R4758:Lipm UTSW 19 34,078,570 (GRCm39) start codon destroyed possibly damaging 0.59
R5446:Lipm UTSW 19 34,095,287 (GRCm39) missense possibly damaging 0.92
R5468:Lipm UTSW 19 34,086,954 (GRCm39) splice site probably null
R5905:Lipm UTSW 19 34,089,311 (GRCm39) missense probably benign
R6066:Lipm UTSW 19 34,090,374 (GRCm39) missense probably damaging 1.00
R6437:Lipm UTSW 19 34,098,657 (GRCm39) missense probably damaging 1.00
R6722:Lipm UTSW 19 34,098,665 (GRCm39) missense probably benign 0.00
R6927:Lipm UTSW 19 34,078,563 (GRCm39) start gained probably benign
R7007:Lipm UTSW 19 34,089,497 (GRCm39) missense probably damaging 1.00
R7031:Lipm UTSW 19 34,093,871 (GRCm39) missense probably benign
R7081:Lipm UTSW 19 34,098,723 (GRCm39) missense possibly damaging 0.90
R7092:Lipm UTSW 19 34,098,758 (GRCm39) missense possibly damaging 0.75
R7419:Lipm UTSW 19 34,093,881 (GRCm39) missense probably benign 0.09
R7426:Lipm UTSW 19 34,093,598 (GRCm39) missense possibly damaging 0.56
R7772:Lipm UTSW 19 34,095,291 (GRCm39) missense probably damaging 0.99
R8805:Lipm UTSW 19 34,090,308 (GRCm39) missense probably damaging 1.00
R9444:Lipm UTSW 19 34,098,690 (GRCm39) missense probably damaging 1.00
R9519:Lipm UTSW 19 34,090,392 (GRCm39) missense probably benign 0.00
R9545:Lipm UTSW 19 34,090,392 (GRCm39) missense probably benign 0.00
R9680:Lipm UTSW 19 34,089,494 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04