Incidental Mutation 'IGL03310:Ces1d'
ID 416537
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 # IGL03310
Quality Score
Status
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 93901816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably benign
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: 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 C T 9: 70,685,371 (GRCm39) R749C probably damaging Het
Atp9a A G 2: 168,481,879 (GRCm39) F872L probably damaging Het
Cacna1e A C 1: 154,317,997 (GRCm39) Y1462D probably damaging Het
Ccna1 T C 3: 54,958,041 (GRCm39) T7A probably benign Het
Cmtm8 A T 9: 114,619,794 (GRCm39) V117D probably benign Het
Cnot1 A G 8: 96,462,308 (GRCm39) probably benign Het
Col24a1 A T 3: 145,019,744 (GRCm39) probably benign Het
Crispld1 T C 1: 17,815,701 (GRCm39) probably benign Het
Dnaja2 A T 8: 86,275,534 (GRCm39) N140K probably benign Het
Fktn A T 4: 53,720,120 (GRCm39) K6* probably null Het
Fryl C A 5: 73,293,659 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,836 (GRCm39) noncoding transcript Het
Gucy2c A C 6: 136,728,044 (GRCm39) S319R probably benign Het
Helz2 G A 2: 180,873,597 (GRCm39) A2299V probably benign Het
Hivep2 T C 10: 14,019,411 (GRCm39) S2061P probably damaging Het
Irx4 A G 13: 73,415,850 (GRCm39) N213S possibly damaging Het
Mark3 A G 12: 111,614,104 (GRCm39) T649A probably benign Het
Nav3 C T 10: 109,660,433 (GRCm39) probably null Het
Npr1 C T 3: 90,363,298 (GRCm39) E861K probably benign Het
Or52a5 A C 7: 103,426,634 (GRCm39) V306G probably benign Het
Or5a3 T C 19: 12,400,291 (GRCm39) V206A probably benign Het
Pcdhb10 C T 18: 37,545,374 (GRCm39) T150I probably damaging Het
Sdk2 A G 11: 113,684,151 (GRCm39) C2009R possibly damaging Het
Trgv7 A G 13: 19,362,664 (GRCm39) probably benign Het
Ttc16 T C 2: 32,652,409 (GRCm39) probably benign Het
Ttc39b T A 4: 83,165,896 (GRCm39) Y230F probably benign Het
Ubr1 A T 2: 120,694,898 (GRCm39) I1678N probably 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
IGL03233:Ces1d APN 8 93,921,707 (GRCm39) missense probably benign
IGL03263:Ces1d APN 8 93,896,346 (GRCm39) splice site probably null
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