Incidental Mutation 'IGL02824:Ces1d'
ID 361142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1d
Ensembl Gene ENSMUSG00000056973
Gene Name carboxylesterase 1D
Synonyms Ces3, TGH
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02824
Quality Score
Status
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) C to A at 93896346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172] [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably null
Transcript: ENSMUST00000034172
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973

DomainStartEndE-ValueType
Pfam:COesterase 1 545 4.9e-169 PFAM
Pfam:Abhydrolase_3 136 256 8.1e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000034172
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973

DomainStartEndE-ValueType
Pfam:COesterase 1 545 4.9e-169 PFAM
Pfam:Abhydrolase_3 136 256 8.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148340
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,596,112 (GRCm39) probably benign Het
Aadat A T 8: 60,969,056 (GRCm39) K93N probably benign Het
Abcb5 A G 12: 118,854,420 (GRCm39) F832L probably benign Het
Abl1 A T 2: 31,690,831 (GRCm39) K783N probably damaging Het
Agxt2 A G 15: 10,393,891 (GRCm39) E423G probably null Het
Alkbh8 T C 9: 3,368,021 (GRCm39) probably null Het
Ankrd36 T C 11: 5,524,246 (GRCm39) I171T possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Cd19 T C 7: 126,009,826 (GRCm39) D446G probably damaging Het
Cyp4f39 T C 17: 32,687,659 (GRCm39) probably null Het
Ehbp1l1 T C 19: 5,769,326 (GRCm39) D659G probably benign Het
Eif3l A G 15: 78,960,023 (GRCm39) probably null Het
F5 T C 1: 164,021,916 (GRCm39) S1464P probably benign Het
Fut9 T C 4: 25,620,037 (GRCm39) N259S probably damaging Het
Glb1l3 A T 9: 26,761,405 (GRCm39) I209N probably damaging Het
Gpd2 A G 2: 57,254,339 (GRCm39) E671G probably null Het
Heatr5b T C 17: 79,081,109 (GRCm39) D1381G probably damaging Het
Ifi206 A T 1: 173,309,438 (GRCm39) I186K possibly damaging Het
Izumo1 A G 7: 45,275,072 (GRCm39) D236G probably benign Het
Klhl32 T A 4: 24,682,237 (GRCm39) R149* probably null Het
Lrrn1 T C 6: 107,545,495 (GRCm39) F431S possibly damaging Het
Man2b2 C T 5: 36,979,195 (GRCm39) V282I probably benign Het
Mboat2 A G 12: 24,996,585 (GRCm39) K164R probably benign Het
Mgarp T C 3: 51,296,508 (GRCm39) T165A probably damaging Het
Midn T G 10: 79,989,486 (GRCm39) I43S possibly damaging Het
Ndn A G 7: 61,998,582 (GRCm39) I143V possibly damaging Het
Or6c69 T C 10: 129,747,565 (GRCm39) E194G probably damaging Het
Or8h9 T C 2: 86,789,337 (GRCm39) D155G probably benign Het
Pcnx4 T C 12: 72,602,345 (GRCm39) V278A probably benign Het
Prr30 A G 14: 101,435,954 (GRCm39) F203L probably benign Het
Scd4 T C 19: 44,329,698 (GRCm39) L223P probably damaging Het
Setdb1 T C 3: 95,247,215 (GRCm39) probably benign Het
Smtn A G 11: 3,482,658 (GRCm39) Y105H probably damaging Het
Spata19 A G 9: 27,309,025 (GRCm39) I54M possibly damaging Het
Syk A T 13: 52,777,319 (GRCm39) probably benign Het
Trim44 A G 2: 102,230,540 (GRCm39) F164L possibly damaging Het
Zfp503 C T 14: 22,035,162 (GRCm39) G585S possibly damaging Het
Other mutations in Ces1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Ces1d APN 8 93,921,717 (GRCm39) splice site probably benign
IGL01707:Ces1d APN 8 93,916,178 (GRCm39) missense possibly damaging 0.57
IGL01753:Ces1d APN 8 93,919,438 (GRCm39) missense probably damaging 1.00
IGL01918:Ces1d APN 8 93,904,703 (GRCm39) missense probably benign 0.00
IGL02730:Ces1d APN 8 93,912,644 (GRCm39) missense probably benign
IGL02819:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL02825:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL02858:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL02877:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL02946:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL02990:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03024:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03080:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03081:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03082:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03096:Ces1d APN 8 93,904,670 (GRCm39) missense probably benign 0.01
IGL03165:Ces1d APN 8 93,916,147 (GRCm39) missense probably benign 0.02
IGL03233:Ces1d APN 8 93,921,707 (GRCm39) missense probably benign
IGL03263:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03310:Ces1d APN 8 93,901,816 (GRCm39) splice site probably benign
IGL03338:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
IGL03357:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
R0125:Ces1d UTSW 8 93,901,810 (GRCm39) splice site probably benign
R0393:Ces1d UTSW 8 93,919,400 (GRCm39) missense probably damaging 1.00
R0483:Ces1d UTSW 8 93,924,307 (GRCm39) missense probably benign
R0746:Ces1d UTSW 8 93,916,096 (GRCm39) missense probably damaging 1.00
R1470:Ces1d UTSW 8 93,921,649 (GRCm39) missense possibly damaging 0.50
R1470:Ces1d UTSW 8 93,921,649 (GRCm39) missense possibly damaging 0.50
R1607:Ces1d UTSW 8 93,912,746 (GRCm39) missense probably benign 0.08
R1879:Ces1d UTSW 8 93,916,126 (GRCm39) missense probably benign 0.35
R2881:Ces1d UTSW 8 93,921,659 (GRCm39) missense probably damaging 1.00
R3870:Ces1d UTSW 8 93,901,714 (GRCm39) missense probably benign 0.15
R4004:Ces1d UTSW 8 93,904,720 (GRCm39) missense probably benign 0.03
R4573:Ces1d UTSW 8 93,908,162 (GRCm39) missense probably benign 0.00
R4647:Ces1d UTSW 8 93,893,038 (GRCm39) missense probably damaging 1.00
R4985:Ces1d UTSW 8 93,901,772 (GRCm39) missense possibly damaging 0.61
R5080:Ces1d UTSW 8 93,908,175 (GRCm39) missense probably benign 0.02
R5209:Ces1d UTSW 8 93,901,816 (GRCm39) splice site probably benign
R5351:Ces1d UTSW 8 93,904,706 (GRCm39) missense probably damaging 1.00
R5433:Ces1d UTSW 8 93,912,664 (GRCm39) missense probably benign 0.02
R5614:Ces1d UTSW 8 93,902,832 (GRCm39) missense probably benign 0.00
R5722:Ces1d UTSW 8 93,904,756 (GRCm39) missense probably benign 0.01
R6257:Ces1d UTSW 8 93,893,025 (GRCm39) missense probably benign 0.03
R7238:Ces1d UTSW 8 93,904,763 (GRCm39) missense probably benign 0.01
R7410:Ces1d UTSW 8 93,919,433 (GRCm39) missense probably damaging 1.00
R7489:Ces1d UTSW 8 93,904,759 (GRCm39) missense probably damaging 1.00
R7563:Ces1d UTSW 8 93,904,667 (GRCm39) missense probably benign 0.25
R7827:Ces1d UTSW 8 93,924,294 (GRCm39) critical splice donor site probably null
R7853:Ces1d UTSW 8 93,901,695 (GRCm39) missense probably benign 0.29
R7860:Ces1d UTSW 8 93,897,765 (GRCm39) missense probably benign 0.08
R8202:Ces1d UTSW 8 93,919,495 (GRCm39) missense probably benign 0.08
R8282:Ces1d UTSW 8 93,912,740 (GRCm39) missense possibly damaging 0.83
R8968:Ces1d UTSW 8 93,914,383 (GRCm39) missense probably damaging 1.00
R8981:Ces1d UTSW 8 93,919,457 (GRCm39) missense probably benign 0.00
R9143:Ces1d UTSW 8 93,912,707 (GRCm39) missense probably damaging 1.00
R9378:Ces1d UTSW 8 93,912,724 (GRCm39) missense probably damaging 0.96
RF014:Ces1d UTSW 8 93,902,793 (GRCm39) critical splice donor site probably null
Z1088:Ces1d UTSW 8 93,901,736 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18