Incidental Mutation 'IGL01707:Ces1d'
ID104633
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 #IGL01707
Quality Score
Status
Chromosome8
Chromosomal Location93166068-93197838 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93189550 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000034172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034172]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034172
AA Change: S150T

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973
AA Change: S150T

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Camk2a G A 18: 60,960,050 probably null Het
Cd209d T C 8: 3,878,296 I30V probably benign Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dbh G A 2: 27,165,544 C10Y probably benign Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr576 T C 7: 102,965,919 I273T probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Rapsn T A 2: 91,043,240 M297K probably benign Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Ces1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Ces1d APN 8 93195089 splice site probably benign
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
IGL03338:Ces1d APN 8 93169718 splice site probably null
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 On2014-01-21