Incidental Mutation 'R7238:Ces1d'
ID 562996
Institutional Source Beutler Lab
Gene Symbol Ces1d
Ensembl Gene ENSMUSG00000056973
Gene Name carboxylesterase 1D
Synonyms Ces3, TGH
MMRRC Submission 045345-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7238 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 93892700-93924432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93904763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 326 (V326I)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
AlphaFold Q8VCT4
Predicted Effect probably benign
Transcript: ENSMUST00000034172
AA Change: V326I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: V326I

DomainStartEndE-ValueType
Pfam:COesterase 1 545 4.9e-169 PFAM
Pfam:Abhydrolase_3 136 256 8.1e-11 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 97% (104/107)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,775,712 (GRCm39) T1634S probably damaging Het
Adgrl1 T A 8: 84,665,693 (GRCm39) M1460K probably damaging Het
Adig T A 2: 158,347,773 (GRCm39) L29Q unknown Het
Adnp T G 2: 168,025,887 (GRCm39) K469N probably damaging Het
Akap3 A G 6: 126,842,200 (GRCm39) D273G probably benign Het
Albfm1 A T 5: 90,727,519 (GRCm39) Y379F probably damaging Het
Ankrd34b T C 13: 92,575,139 (GRCm39) Y124H possibly damaging Het
Ap2b1 T G 11: 83,223,948 (GRCm39) F221C possibly damaging Het
Atp2c2 A G 8: 120,469,160 (GRCm39) I358V possibly damaging Het
BC051665 G A 13: 60,930,536 (GRCm39) T272I probably benign Het
Cdan1 G T 2: 120,560,783 (GRCm39) A262E probably benign Het
Chd3 T C 11: 69,254,873 (GRCm39) R156G probably benign Het
Clip1 C T 5: 123,751,328 (GRCm39) E818K Het
Col6a4 C T 9: 105,877,519 (GRCm39) V2153M probably damaging Het
Crlf3 T C 11: 79,947,351 (GRCm39) N296D possibly damaging Het
Cstdc6 C T 16: 36,142,193 (GRCm39) G61D probably benign Het
D130052B06Rik A G 11: 33,573,594 (GRCm39) I109V probably benign Het
Dcaf5 G T 12: 80,385,483 (GRCm39) T881K probably benign Het
Dennd4a C A 9: 64,769,238 (GRCm39) T408K probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnah2 A G 11: 69,349,972 (GRCm39) probably null Het
Eif1ad8 A T 12: 87,564,006 (GRCm39) K114* probably null Het
Eif2ak2 C T 17: 79,173,760 (GRCm39) V273I probably benign Het
Elac1 C T 18: 73,872,359 (GRCm39) G212D probably damaging Het
Ercc6l2 A G 13: 64,013,798 (GRCm39) D623G probably damaging Het
Exo1 T C 1: 175,716,413 (GRCm39) F177L probably damaging Het
Fat4 A G 3: 38,944,562 (GRCm39) T1152A probably benign Het
Fbxl12 G T 9: 20,529,709 (GRCm39) probably null Het
Fbxo43 T C 15: 36,151,971 (GRCm39) Y582C probably damaging Het
Fsip2 T A 2: 82,812,484 (GRCm39) N2934K possibly damaging Het
Gna12 A G 5: 140,815,847 (GRCm39) S69P probably damaging Het
Gpatch8 C A 11: 102,369,354 (GRCm39) G1395C probably damaging Het
Gpr137c A G 14: 45,516,148 (GRCm39) Y294C probably damaging Het
Greb1 A G 12: 16,724,673 (GRCm39) S1834P probably damaging Het
Grin2b T C 6: 135,757,249 (GRCm39) D404G probably damaging Het
Hectd2 A T 19: 36,574,478 (GRCm39) N236I probably damaging Het
Hhip C T 8: 80,713,641 (GRCm39) V562I probably benign Het
Hipk2 G T 6: 38,692,992 (GRCm39) T867N probably benign Het
Hmgcl T C 4: 135,689,424 (GRCm39) V294A possibly damaging Het
Hnrnpl T A 7: 28,513,400 (GRCm39) F158I Het
Hspa5 T C 2: 34,662,383 (GRCm39) V17A unknown Het
Hspg2 T C 4: 137,235,704 (GRCm39) V168A probably damaging Het
Idh1 A G 1: 65,205,284 (GRCm39) F227S probably damaging Het
Iigp1c A G 18: 60,379,355 (GRCm39) S297G possibly damaging Het
Immp2l T C 12: 41,160,915 (GRCm39) V71A possibly damaging Het
Iqce G A 5: 140,675,713 (GRCm39) R193* probably null Het
Kcnq5 T C 1: 21,472,526 (GRCm39) D907G probably benign Het
Krt17 T A 11: 100,148,613 (GRCm39) T306S probably benign Het
Lhx3 T C 2: 26,093,009 (GRCm39) D149G probably damaging Het
Lrrc73 G A 17: 46,565,488 (GRCm39) R73H probably damaging Het
Mgat5b T C 11: 116,875,809 (GRCm39) S678P probably benign Het
Mink1 T C 11: 70,502,305 (GRCm39) probably null Het
Mroh5 T G 15: 73,663,278 (GRCm39) probably null Het
Muc5ac T A 7: 141,363,254 (GRCm39) H2188Q unknown Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Musk G A 4: 58,344,312 (GRCm39) G305D probably benign Het
Mx1 A G 16: 97,249,496 (GRCm39) I347T unknown Het
Mybbp1a G T 11: 72,334,338 (GRCm39) V198F probably damaging Het
Mycbp2 A G 14: 103,393,733 (GRCm39) S2943P probably damaging Het
Myo18a G A 11: 77,733,059 (GRCm39) R1363K probably damaging Het
Nav3 T A 10: 109,689,185 (GRCm39) D364V possibly damaging Het
Or13g1 T C 7: 85,955,799 (GRCm39) H174R probably damaging Het
Or14j6 T C 17: 38,215,328 (GRCm39) L297S probably benign Het
Or1e26 A T 11: 73,480,561 (GRCm39) M1K probably null Het
Or1j13 T A 2: 36,369,726 (GRCm39) N139Y possibly damaging Het
Or5k15 T A 16: 58,710,252 (GRCm39) E110D probably damaging Het
Pecr T C 1: 72,298,592 (GRCm39) D276G probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp1cb A T 5: 32,648,376 (GRCm39) T320S probably benign Het
Ppp1r9a G T 6: 5,159,716 (GRCm39) K1084N probably damaging Het
Prdm2 A G 4: 142,862,391 (GRCm39) S300P probably benign Het
Prkg1 C T 19: 30,602,090 (GRCm39) V389I probably damaging Het
Psg25 C T 7: 18,266,127 (GRCm39) probably benign Het
Ptpn6 A G 6: 124,698,821 (GRCm39) S498P possibly damaging Het
Pus3 A G 9: 35,477,965 (GRCm39) H399R probably benign Het
Pus7 T C 5: 23,983,450 (GRCm39) T6A probably benign Het
Rnf169 A G 7: 99,574,954 (GRCm39) V547A probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Ryr1 C T 7: 28,794,807 (GRCm39) D1194N probably benign Het
Scn5a T C 9: 119,320,610 (GRCm39) M1490V possibly damaging Het
Sec23b A G 2: 144,432,258 (GRCm39) D756G possibly damaging Het
Selenoo T A 15: 88,973,427 (GRCm39) M39K probably benign Het
Septin8 T G 11: 53,427,519 (GRCm39) V246G possibly damaging Het
Serpina3k T A 12: 104,309,367 (GRCm39) N270K probably damaging Het
Setd5 G A 6: 113,098,091 (GRCm39) R710H probably damaging Het
Sirt4 A T 5: 115,621,049 (GRCm39) I41N possibly damaging Het
Slc26a9 T A 1: 131,686,556 (GRCm39) Y425* probably null Het
Slc4a9 A G 18: 36,662,773 (GRCm39) E176G probably benign Het
Speer1m T C 5: 11,970,712 (GRCm39) I127T Het
Spidr A T 16: 15,784,680 (GRCm39) W463R probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmcc1 G A 6: 116,111,198 (GRCm39) Q28* probably null Het
Tmem52b A G 6: 129,493,651 (GRCm39) E88G probably damaging Het
Trpc7 A T 13: 56,974,710 (GRCm39) I402K probably benign Het
Tshz3 T C 7: 36,469,522 (GRCm39) Y504H probably damaging Het
Ttn T C 2: 76,542,549 (GRCm39) E33479G possibly damaging Het
Ttn G A 2: 76,711,672 (GRCm39) R8290C unknown Het
Urb1 T C 16: 90,549,003 (GRCm39) D2235G possibly damaging Het
Usp10 T C 8: 120,668,283 (GRCm39) F195L probably benign Het
Vmn1r31 A T 6: 58,449,858 (GRCm39) F2L Het
Vmn2r109 C T 17: 20,761,336 (GRCm39) V674M probably damaging Het
Vmn2r12 G A 5: 109,245,655 (GRCm39) P26S possibly damaging Het
Vmn2r61 T A 7: 41,916,629 (GRCm39) M414K possibly damaging Het
Yipf3 T C 17: 46,562,585 (GRCm39) V330A probably benign Het
Zic4 A T 9: 91,261,450 (GRCm39) H235L probably benign Het
Zxdc T A 6: 90,346,642 (GRCm39) W16R unknown 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
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
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'- ACATAAACCTTGGTCAGAGCAG -3'
(R):5'- ATCATCTTGGTGGCACTGACTC -3'

Sequencing Primer
(F):5'- CTTGGTCAGAGCAGGGAGC -3'
(R):5'- GGTGGCACTGACTCCTTAAAGAATC -3'
Posted On 2019-06-26