Incidental Mutation 'IGL01655:Ces4a'
ID102947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces4a
Ensembl Gene ENSMUSG00000060560
Gene Namecarboxylesterase 4A
SynonymsCes8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01655
Quality Score
Status
Chromosome8
Chromosomal Location105131800-105150109 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105147174 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 425 (L425Q)
Ref Sequence ENSEMBL: ENSMUSP00000125062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161289]
Predicted Effect probably damaging
Transcript: ENSMUST00000161289
AA Change: L425Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: L425Q

DomainStartEndE-ValueType
Pfam:COesterase 8 554 4.9e-163 PFAM
Pfam:Abhydrolase_3 143 319 2e-9 PFAM
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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 G A 3: 97,165,972 probably null Het
Aida T A 1: 183,313,683 Y104* probably null Het
Cd300lg T C 11: 102,047,075 S244P probably benign Het
Chrnb3 T C 8: 27,394,174 V298A probably damaging Het
Cnot6 A C 11: 49,677,304 F486C probably damaging Het
Ctnna3 A G 10: 64,873,170 T663A probably benign Het
Cyp2j12 T A 4: 96,115,577 K267N possibly damaging Het
Dclre1a A T 19: 56,547,057 Y32N probably damaging Het
Ddx21 A G 10: 62,587,491 I644T probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ercc6l2 T A 13: 63,819,752 Y55* probably null Het
Esyt1 A G 10: 128,522,312 I183T possibly damaging Het
Exoc8 T C 8: 124,896,228 T467A probably benign Het
Fance T C 17: 28,322,779 probably benign Het
Fbxo46 C T 7: 19,136,310 R285W probably damaging Het
Ffar2 A T 7: 30,819,587 V176E probably damaging Het
Fnbp1l T C 3: 122,568,749 probably null Het
Gm10288 T C 3: 146,838,810 noncoding transcript Het
Gm12588 T A 11: 121,907,951 Het
Gm9755 G A 8: 67,515,233 noncoding transcript Het
Gpr33 A T 12: 52,023,560 M232K probably damaging Het
Haus5 A T 7: 30,663,294 probably benign Het
Ilvbl A G 10: 78,577,333 probably benign Het
Kifap3 G A 1: 163,796,049 probably benign Het
Klhl26 T C 8: 70,451,883 Y378C probably damaging Het
Lama4 G A 10: 39,060,213 S628N probably benign Het
Lamc3 G A 2: 31,898,278 R150H probably damaging Het
Mrgprx2 A T 7: 48,482,691 C126* probably null Het
Myo3a A T 2: 22,423,326 D798V probably damaging Het
Ndufs1 A T 1: 63,151,557 L44Q probably damaging Het
Nfrkb G T 9: 31,403,459 R525L probably benign Het
Olfr1124 T A 2: 87,434,885 C133S probably damaging Het
Olfr1134 A G 2: 87,656,429 F164S probably damaging Het
Olfr1287 T C 2: 111,449,889 F250L probably benign Het
Olfr1370 T C 13: 21,072,905 Y132C probably damaging Het
Olfr146 T A 9: 39,018,918 I208F probably benign Het
Olfr394 T C 11: 73,887,927 I148M probably benign Het
Olfr458 T C 6: 42,460,540 T160A probably benign Het
Olfr735 A G 14: 50,346,184 M86T probably benign Het
Olfr824 G T 10: 130,126,991 T22K probably benign Het
Pias4 T C 10: 81,155,658 K352E probably benign Het
Pkhd1 G A 1: 20,534,633 Q1153* probably null Het
Pon1 C A 6: 5,175,760 W254C probably damaging Het
Prr14 A G 7: 127,475,767 T447A probably benign Het
Serpinb9g T A 13: 33,495,105 C319* probably null Het
Slc9c1 A T 16: 45,582,972 M801L probably benign Het
Tenm4 C T 7: 96,553,724 T182M probably damaging Het
Ubr4 T A 4: 139,407,796 L813Q probably damaging Het
Uimc1 T C 13: 55,028,704 E667G probably benign Het
Unc79 A G 12: 103,168,287 T2173A probably benign Het
Unkl T C 17: 25,210,848 S142P probably benign Het
Vezt A G 10: 93,996,997 V204A probably benign Het
Vps53 A T 11: 76,063,034 I402N probably damaging Het
Zfyve9 T C 4: 108,642,092 D1343G probably damaging Het
Other mutations in Ces4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Ces4a APN 8 105145163 missense probably benign 0.00
IGL01574:Ces4a APN 8 105145227 splice site probably benign
IGL03092:Ces4a APN 8 105148204 splice site probably benign
IGL03151:Ces4a APN 8 105148197 critical splice donor site probably null
F6893:Ces4a UTSW 8 105147227 missense possibly damaging 0.74
R0266:Ces4a UTSW 8 105141966 missense probably benign
R0659:Ces4a UTSW 8 105144922 splice site probably benign
R1239:Ces4a UTSW 8 105149498 missense probably damaging 1.00
R1467:Ces4a UTSW 8 105138035 missense possibly damaging 0.56
R1467:Ces4a UTSW 8 105138035 missense possibly damaging 0.56
R1505:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1509:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1598:Ces4a UTSW 8 105142821 missense probably damaging 1.00
R1734:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1736:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1737:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1738:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1744:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1789:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1951:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R1953:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R2126:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R2129:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R2202:Ces4a UTSW 8 105146114 missense probably damaging 1.00
R4512:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R4865:Ces4a UTSW 8 105147158 missense probably benign 0.05
R4934:Ces4a UTSW 8 105137981 missense probably benign 0.30
R4936:Ces4a UTSW 8 105138097 missense probably damaging 1.00
R5255:Ces4a UTSW 8 105142489 missense probably benign 0.00
R5342:Ces4a UTSW 8 105146143 missense probably benign 0.07
R5647:Ces4a UTSW 8 105146080 missense probably benign 0.10
R6062:Ces4a UTSW 8 105138174 critical splice donor site probably null
R6490:Ces4a UTSW 8 105149458 missense probably benign 0.09
R6606:Ces4a UTSW 8 105149378 missense possibly damaging 0.95
R6876:Ces4a UTSW 8 105144992 missense possibly damaging 0.56
R6901:Ces4a UTSW 8 105146698 missense probably benign
Posted On2014-01-21