Incidental Mutation 'IGL02730:Ces1d'
ID305428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1d
Ensembl Gene ENSMUSG00000056973
Gene Namecarboxylesterase 1D
SynonymsTGH, Ces3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02730
Quality Score
Status
Chromosome8
Chromosomal Location93166068-93197838 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93186016 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 265 (G265S)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
Predicted Effect probably benign
Transcript: ENSMUST00000034172
AA Change: G265S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: G265S

DomainStartEndE-ValueType
Pfam:COesterase 1 545 4.9e-169 PFAM
Pfam:Abhydrolase_3 136 256 8.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212413
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased blood lipids, improved glucose tolerance, and increased energy expenditure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,166,149 probably benign Het
Ankib1 A T 5: 3,702,995 V651E probably damaging Het
BC051665 G A 13: 60,785,012 probably benign Het
Dsg1c A C 18: 20,274,830 D411A probably damaging Het
Exosc5 T C 7: 25,663,197 I70T possibly damaging Het
Fgf20 T A 8: 40,279,787 L203F probably damaging Het
Gm14025 T C 2: 129,038,726 T427A possibly damaging Het
Gpsm1 T A 2: 26,325,378 V316E probably benign Het
Gtpbp1 T A 15: 79,719,171 D620E probably benign Het
Hs6st1 A G 1: 36,103,628 T215A probably damaging Het
Irgm2 T A 11: 58,219,990 M169K probably benign Het
Kcns3 A G 12: 11,092,075 S208P probably benign Het
Klra6 T C 6: 130,022,697 T103A probably benign Het
Lrba T A 3: 86,328,199 M870K probably damaging Het
Mapk1ip1l C T 14: 47,310,920 T175I possibly damaging Het
Meig1 A G 2: 3,411,910 Y25H probably damaging Het
Msh2 T C 17: 87,707,215 F474L probably damaging Het
Nlrp4b T C 7: 10,714,758 F296S probably damaging Het
Olfr1040 C T 2: 86,146,099 V212M probably benign Het
Olfr109 T A 17: 37,466,859 Y218N probably damaging Het
Olfr1138 T A 2: 87,737,641 I228F probably damaging Het
Olfr1336 T C 7: 6,461,124 I205T possibly damaging Het
Olfr149 C T 9: 39,702,238 C177Y probably damaging Het
Olfr164 T A 16: 19,286,682 L20F probably benign Het
Olfr281 A G 15: 98,456,436 N42S probably damaging Het
Olfr293 T C 7: 86,664,067 L135P probably damaging Het
Pds5b A G 5: 150,780,752 probably benign Het
Plekhg1 A G 10: 3,873,242 D70G possibly damaging Het
Rubcnl C T 14: 75,050,148 T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 H317Y probably benign Het
Sec22a T C 16: 35,314,100 D282G probably damaging Het
Serpina3a T C 12: 104,119,663 F126L probably damaging Het
Serpinc1 A G 1: 161,000,028 D399G probably damaging Het
Sorcs2 A G 5: 36,062,552 Y383H probably benign Het
Speer3 T A 5: 13,793,271 M64K probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stx1b C A 7: 127,815,377 R25L probably benign Het
Syt5 A G 7: 4,542,357 V181A probably damaging Het
Tspoap1 G T 11: 87,781,709 V1788F probably damaging Het
Vmn1r233 A G 17: 20,993,795 S298P possibly damaging Het
Xntrpc T C 7: 102,082,112 S353P probably damaging Het
Other mutations in Ces1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Ces1d APN 8 93195089 splice site probably benign
IGL01707:Ces1d APN 8 93189550 missense possibly damaging 0.57
IGL01753:Ces1d APN 8 93192810 missense probably damaging 1.00
IGL01918:Ces1d APN 8 93178075 missense probably benign 0.00
IGL02819:Ces1d APN 8 93169718 splice site probably null
IGL02824:Ces1d APN 8 93169718 splice site probably null
IGL02825:Ces1d APN 8 93169718 splice site probably null
IGL02858:Ces1d APN 8 93169718 splice site probably null
IGL02877:Ces1d APN 8 93169718 splice site probably null
IGL02946:Ces1d APN 8 93169718 splice site probably null
IGL02990:Ces1d APN 8 93169718 splice site probably null
IGL03024:Ces1d APN 8 93169718 splice site probably null
IGL03080:Ces1d APN 8 93169718 splice site probably null
IGL03081:Ces1d APN 8 93169718 splice site probably null
IGL03082:Ces1d APN 8 93169718 splice site probably null
IGL03096:Ces1d APN 8 93178042 missense probably benign 0.01
IGL03165:Ces1d APN 8 93189519 missense probably benign 0.02
IGL03233:Ces1d APN 8 93195079 missense probably benign
IGL03263:Ces1d APN 8 93169718 splice site probably null
IGL03310:Ces1d APN 8 93175188 splice site probably benign
IGL03338:Ces1d APN 8 93169718 splice site probably null
IGL03357:Ces1d APN 8 93169718 splice site probably null
R0125:Ces1d UTSW 8 93175182 splice site probably benign
R0393:Ces1d UTSW 8 93192772 missense probably damaging 1.00
R0483:Ces1d UTSW 8 93197679 missense probably benign
R0746:Ces1d UTSW 8 93189468 missense probably damaging 1.00
R1470:Ces1d UTSW 8 93195021 missense possibly damaging 0.50
R1470:Ces1d UTSW 8 93195021 missense possibly damaging 0.50
R1607:Ces1d UTSW 8 93186118 missense probably benign 0.08
R1879:Ces1d UTSW 8 93189498 missense probably benign 0.35
R2881:Ces1d UTSW 8 93195031 missense probably damaging 1.00
R3870:Ces1d UTSW 8 93175086 missense probably benign 0.15
R4004:Ces1d UTSW 8 93178092 missense probably benign 0.03
R4573:Ces1d UTSW 8 93181534 missense probably benign 0.00
R4647:Ces1d UTSW 8 93166410 missense probably damaging 1.00
R4985:Ces1d UTSW 8 93175144 missense possibly damaging 0.61
R5080:Ces1d UTSW 8 93181547 missense probably benign 0.02
R5209:Ces1d UTSW 8 93175188 splice site probably benign
R5351:Ces1d UTSW 8 93178078 missense probably damaging 1.00
R5433:Ces1d UTSW 8 93186036 missense probably benign 0.02
R5614:Ces1d UTSW 8 93176204 missense probably benign 0.00
R5722:Ces1d UTSW 8 93178128 missense probably benign 0.01
R6257:Ces1d UTSW 8 93166397 missense probably benign 0.03
R7238:Ces1d UTSW 8 93178135 missense probably benign 0.01
R7410:Ces1d UTSW 8 93192805 missense probably damaging 1.00
R7489:Ces1d UTSW 8 93178131 missense probably damaging 1.00
R7563:Ces1d UTSW 8 93178039 missense probably benign 0.25
R7827:Ces1d UTSW 8 93197666 critical splice donor site probably null
R7853:Ces1d UTSW 8 93175067 missense probably benign 0.29
R7860:Ces1d UTSW 8 93171137 missense probably benign 0.08
R8202:Ces1d UTSW 8 93192867 missense probably benign 0.08
R8282:Ces1d UTSW 8 93186112 missense possibly damaging 0.83
RF014:Ces1d UTSW 8 93176165 critical splice donor site probably null
Z1088:Ces1d UTSW 8 93175108 missense probably benign 0.00
Posted On2015-04-16