Incidental Mutation 'IGL03338:Ces1d'
ID417124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1d
Ensembl Gene ENSMUSG00000056973
Gene Namecarboxylesterase 1D
SynonymsTGH, Ces3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03338
Quality Score
Status
Chromosome8
Chromosomal Location93166068-93197838 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) C to A at 93169718 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172] [ENSMUST00000034172]
Predicted Effect probably null
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 probably null
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: ENSMUST00000143256
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,694,153 V260M probably damaging Het
Accsl T A 2: 93,855,747 H575L probably benign Het
Armc3 A T 2: 19,248,701 I218F possibly damaging Het
Bora C A 14: 99,072,742 N502K probably damaging Het
Brd4 T A 17: 32,213,072 D606V probably damaging Het
Ccdc190 T A 1: 169,929,975 M1K probably null Het
Ccl25 T C 8: 4,349,898 probably benign Het
Cep78 G T 19: 15,959,623 T573K probably damaging Het
Cntn4 C T 6: 106,655,589 H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 E101G probably benign Het
Dnah2 A G 11: 69,496,577 V941A probably benign Het
Exoc6b A G 6: 84,844,130 I559T probably damaging Het
Fmr1 T C X: 68,688,336 probably null Het
Ghr A T 15: 3,347,542 C66S probably damaging Het
Gm13078 T C 4: 143,726,742 I140T probably benign Het
Gm13101 T C 4: 143,965,841 I197V probably benign Het
Gm13101 T A 4: 143,966,038 Q131L probably benign Het
Hook1 C A 4: 95,998,692 probably benign Het
Igsf1 T C X: 49,787,499 T73A probably benign Het
Ipo8 T C 6: 148,800,257 K451R probably benign Het
Irs1 A G 1: 82,288,401 V698A probably benign Het
Kat2a T C 11: 100,711,475 D151G probably benign Het
Lyrm1 A T 7: 119,914,246 Q78L probably benign Het
Madd C T 2: 91,162,162 G1012E possibly damaging Het
Mboat1 T A 13: 30,136,759 D31E probably benign Het
Myh8 C A 11: 67,298,346 A1116D probably damaging Het
Nop2 G A 6: 125,139,732 probably null Het
Notch1 A G 2: 26,459,959 S2390P probably benign Het
Olfr1122 T G 2: 87,388,126 N140K probably benign Het
Olfr619 T A 7: 103,604,408 C251* probably null Het
Olfr792 A G 10: 129,541,056 D173G probably damaging Het
Pigg T C 5: 108,319,950 S272P probably damaging Het
Plg A G 17: 12,419,072 Y795C probably damaging Het
Polr3e A G 7: 120,937,620 K335R probably benign Het
Pramef12 T A 4: 144,394,827 Y209F probably benign Het
Prdm4 A T 10: 85,907,821 M190K possibly damaging Het
Prex2 T A 1: 11,140,265 F597L probably benign Het
Ranbp3l A G 15: 9,060,859 E403G probably damaging Het
Rgmb C T 17: 15,807,303 A385T possibly damaging Het
Scn4a T A 11: 106,320,845 I1449F probably damaging Het
Slc17a9 T C 2: 180,740,518 probably benign Het
Slc26a2 T C 18: 61,198,902 I486V probably damaging Het
Sntn A T 14: 13,678,991 D55V probably damaging Het
Snx25 T A 8: 46,045,210 R595S probably benign Het
Spag11b C T 8: 19,141,410 T33I probably damaging Het
Sval2 A G 6: 41,864,247 I81M probably damaging Het
Tab2 A G 10: 7,919,275 V481A probably damaging Het
Zfp867 G A 11: 59,464,177 Q109* probably null Het
Zfp935 T C 13: 62,454,433 T318A probably benign Het
Other mutations in Ces1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Ces1d APN 8 93195089 splice site probably benign
IGL01707:Ces1d APN 8 93189550 missense possibly damaging 0.57
IGL01753:Ces1d APN 8 93192810 missense probably damaging 1.00
IGL01918:Ces1d APN 8 93178075 missense probably benign 0.00
IGL02730:Ces1d APN 8 93186016 missense probably benign
IGL02819:Ces1d APN 8 93169718 splice site probably null
IGL02824:Ces1d APN 8 93169718 splice site probably null
IGL02825:Ces1d APN 8 93169718 splice site probably null
IGL02858:Ces1d APN 8 93169718 splice site probably null
IGL02877:Ces1d APN 8 93169718 splice site probably null
IGL02946:Ces1d APN 8 93169718 splice site probably null
IGL02990:Ces1d APN 8 93169718 splice site probably null
IGL03024:Ces1d APN 8 93169718 splice site probably null
IGL03080:Ces1d APN 8 93169718 splice site probably null
IGL03081:Ces1d APN 8 93169718 splice site probably null
IGL03082:Ces1d APN 8 93169718 splice site probably null
IGL03096:Ces1d APN 8 93178042 missense probably benign 0.01
IGL03165:Ces1d APN 8 93189519 missense probably benign 0.02
IGL03233:Ces1d APN 8 93195079 missense probably benign
IGL03263:Ces1d APN 8 93169718 splice site probably null
IGL03310:Ces1d APN 8 93175188 splice site probably benign
IGL03357:Ces1d APN 8 93169718 splice site probably null
R0125:Ces1d UTSW 8 93175182 splice site probably benign
R0393:Ces1d UTSW 8 93192772 missense probably damaging 1.00
R0483:Ces1d UTSW 8 93197679 missense probably benign
R0746:Ces1d UTSW 8 93189468 missense probably damaging 1.00
R1470:Ces1d UTSW 8 93195021 missense possibly damaging 0.50
R1470:Ces1d UTSW 8 93195021 missense possibly damaging 0.50
R1607:Ces1d UTSW 8 93186118 missense probably benign 0.08
R1879:Ces1d UTSW 8 93189498 missense probably benign 0.35
R2881:Ces1d UTSW 8 93195031 missense probably damaging 1.00
R3870:Ces1d UTSW 8 93175086 missense probably benign 0.15
R4004:Ces1d UTSW 8 93178092 missense probably benign 0.03
R4573:Ces1d UTSW 8 93181534 missense probably benign 0.00
R4647:Ces1d UTSW 8 93166410 missense probably damaging 1.00
R4985:Ces1d UTSW 8 93175144 missense possibly damaging 0.61
R5080:Ces1d UTSW 8 93181547 missense probably benign 0.02
R5209:Ces1d UTSW 8 93175188 splice site probably benign
R5351:Ces1d UTSW 8 93178078 missense probably damaging 1.00
R5433:Ces1d UTSW 8 93186036 missense probably benign 0.02
R5614:Ces1d UTSW 8 93176204 missense probably benign 0.00
R5722:Ces1d UTSW 8 93178128 missense probably benign 0.01
R6257:Ces1d UTSW 8 93166397 missense probably benign 0.03
R7238:Ces1d UTSW 8 93178135 missense probably benign 0.01
R7410:Ces1d UTSW 8 93192805 missense probably damaging 1.00
R7489:Ces1d UTSW 8 93178131 missense probably damaging 1.00
R7563:Ces1d UTSW 8 93178039 missense probably benign 0.25
R7827:Ces1d UTSW 8 93197666 critical splice donor site probably null
R7853:Ces1d UTSW 8 93175067 missense probably benign 0.29
R7860:Ces1d UTSW 8 93171137 missense probably benign 0.08
R7936:Ces1d UTSW 8 93175067 missense probably benign 0.29
R7943:Ces1d UTSW 8 93171137 missense probably benign 0.08
RF014:Ces1d UTSW 8 93176165 critical splice donor site probably null
Z1088:Ces1d UTSW 8 93175108 missense probably benign 0.00
Posted On2016-08-02