Incidental Mutation 'R5614:Ces1d'
ID 438145
Institutional Source Beutler Lab
Gene Symbol Ces1d
Ensembl Gene ENSMUSG00000056973
Gene Name carboxylesterase 1D
Synonyms Ces3, TGH
MMRRC Submission 043275-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5614 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93902832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 375 (T375A)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably benign
Transcript: ENSMUST00000034172
AA Change: T375A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: T375A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (62/62)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,132 (GRCm39) V1712A probably damaging Het
Ankmy2 T C 12: 36,243,783 (GRCm39) S333P probably damaging Het
Arfrp1 A G 2: 181,001,236 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,719,493 (GRCm39) T21A probably benign Het
Bud23 C A 5: 135,087,966 (GRCm39) A152S probably benign Het
Cant1 T C 11: 118,299,569 (GRCm39) D260G probably benign Het
Ces1b T C 8: 93,794,836 (GRCm39) I254M probably benign Het
Cfap54 A G 10: 92,880,911 (GRCm39) L384P probably damaging Het
Chrne C T 11: 70,505,879 (GRCm39) V469I possibly damaging Het
Clspn A G 4: 126,474,755 (GRCm39) E968G probably damaging Het
Col5a3 A G 9: 20,694,772 (GRCm39) probably benign Het
Dtx4 T C 19: 12,459,547 (GRCm39) Y419C probably damaging Het
Fam171b T A 2: 83,643,217 (GRCm39) I42N probably damaging Het
Fam43a T C 16: 30,420,490 (GRCm39) I358T possibly damaging Het
Fasn T C 11: 120,704,154 (GRCm39) S1422G probably benign Het
Fig4 A T 10: 41,148,981 (GRCm39) V157E probably damaging Het
Fus T C 7: 127,573,543 (GRCm39) probably benign Het
Hmcn2 G T 2: 31,318,315 (GRCm39) V3887F probably damaging Het
Hmgcll1 A G 9: 75,988,675 (GRCm39) Y182C probably damaging Het
Hook2 T A 8: 85,729,137 (GRCm39) I585N probably damaging Het
Iars2 T C 1: 185,021,705 (GRCm39) T866A probably benign Het
Iqca1l G A 5: 24,755,140 (GRCm39) A330V probably benign Het
Lrit1 T A 14: 36,783,911 (GRCm39) M413K probably benign Het
Myl9 G A 2: 156,623,083 (GRCm39) probably benign Het
Nelfa A T 5: 34,077,844 (GRCm39) L179Q probably damaging Het
Nod2 A T 8: 89,390,824 (GRCm39) D355V probably damaging Het
Npbwr1 A T 1: 5,987,030 (GRCm39) S161R probably damaging Het
Nxpe2 A T 9: 48,234,401 (GRCm39) F289I probably benign Het
Odf2 A G 2: 29,810,879 (GRCm39) I538M probably damaging Het
Osbpl6 T A 2: 76,398,453 (GRCm39) V379E probably damaging Het
Pkhd1 A G 1: 20,143,750 (GRCm39) C3859R possibly damaging Het
Rgs1 G T 1: 144,121,995 (GRCm39) T99N probably benign Het
Rnf6 T C 5: 146,154,910 (GRCm39) probably null Het
Rtp1 C A 16: 23,249,940 (GRCm39) Q102K possibly damaging Het
Sec24c T A 14: 20,732,806 (GRCm39) V123E possibly damaging Het
Serpini2 T C 3: 75,165,014 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,636,638 (GRCm39) probably benign Het
Tecta A G 9: 42,250,351 (GRCm39) S1809P probably damaging Het
Tgfb2 T A 1: 186,357,710 (GRCm39) I394F probably benign Het
Thg1l T C 11: 45,841,054 (GRCm39) Y175C possibly damaging Het
Tmem67 C A 4: 12,061,755 (GRCm39) K572N possibly damaging Het
Tollip T C 7: 141,445,825 (GRCm39) T19A probably damaging Het
Ttn A G 2: 76,542,451 (GRCm39) Y25185H probably damaging Het
Vgll2 A T 10: 51,901,318 (GRCm39) R83* probably null Het
Wfdc8 G T 2: 164,445,123 (GRCm39) A164E probably damaging Het
Ylpm1 T C 12: 85,111,718 (GRCm39) probably benign Het
Zfp326 T A 5: 106,036,361 (GRCm39) S91T probably damaging Het
Zfp638 T C 6: 83,906,623 (GRCm39) F263L probably damaging Het
Zfp800 G A 6: 28,243,135 (GRCm39) T610I probably damaging Het
Zmym4 A G 4: 126,804,729 (GRCm39) F475L 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTTCAACACACCTGGATGG -3'
(R):5'- TGTGGCTTCTGATGTGATCAATAC -3'

Sequencing Primer
(F):5'- GTTTCCACCATCAAACTGG -3'
(R):5'- GCTTCTGATGTGATCAATACCTTTAC -3'
Posted On 2016-10-26