Incidental Mutation 'IGL03165:Ces1d'
ID 411587
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 # IGL03165
Quality Score
Status
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93916147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 160 (H160L)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably benign
Transcript: ENSMUST00000034172
AA Change: H160L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: H160L

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Cacng2 A T 15: 77,879,863 (GRCm39) I153N possibly damaging Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Gstk1 T G 6: 42,226,368 (GRCm39) I159S probably benign Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Or5al6 A C 2: 85,976,412 (GRCm39) L222R possibly damaging Het
Pa2g4 A T 10: 128,394,929 (GRCm39) probably null Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Tlr2 A G 3: 83,745,255 (GRCm39) I276T probably benign Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G 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
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 2016-08-02