Incidental Mutation 'IGL03233:Ces1d'
ID 413968
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 # IGL03233
Quality Score
Status
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93921707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 19 (Y19H)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably benign
Transcript: ENSMUST00000034172
AA Change: Y19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: Y19H

DomainStartEndE-ValueType
Pfam:COesterase 1 545 4.9e-169 PFAM
Pfam:Abhydrolase_3 136 256 8.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129987
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Esco1 A G 18: 10,574,877 (GRCm39) W208R probably damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R 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
IGL02824: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
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 2016-08-02