Incidental Mutation 'IGL03092:Ces4a'
ID 418433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces4a
Ensembl Gene ENSMUSG00000060560
Gene Name carboxylesterase 4A
Synonyms Ces8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03092
Quality Score
Status
Chromosome 8
Chromosomal Location 105858432-105876741 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 105874836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161289]
AlphaFold Q8R0W5
Predicted Effect probably benign
Transcript: ENSMUST00000161289
SMART Domains Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Dsel A G 1: 111,787,793 (GRCm39) L914P probably damaging Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G probably damaging Het
Other mutations in Ces4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Ces4a APN 8 105,871,795 (GRCm39) missense probably benign 0.00
IGL01574:Ces4a APN 8 105,871,859 (GRCm39) splice site probably benign
IGL01655:Ces4a APN 8 105,873,806 (GRCm39) missense probably damaging 0.99
IGL03151:Ces4a APN 8 105,874,829 (GRCm39) critical splice donor site probably null
F6893:Ces4a UTSW 8 105,873,859 (GRCm39) missense possibly damaging 0.74
R0266:Ces4a UTSW 8 105,868,598 (GRCm39) missense probably benign
R0659:Ces4a UTSW 8 105,871,554 (GRCm39) splice site probably benign
R1239:Ces4a UTSW 8 105,876,130 (GRCm39) missense probably damaging 1.00
R1467:Ces4a UTSW 8 105,864,667 (GRCm39) missense possibly damaging 0.56
R1467:Ces4a UTSW 8 105,864,667 (GRCm39) missense possibly damaging 0.56
R1505:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1509:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1598:Ces4a UTSW 8 105,869,453 (GRCm39) missense probably damaging 1.00
R1734:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1736:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1737:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1738:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1744:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1789:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1951:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R1953:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R2126:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R2129:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R2202:Ces4a UTSW 8 105,872,746 (GRCm39) missense probably damaging 1.00
R4512:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R4865:Ces4a UTSW 8 105,873,790 (GRCm39) missense probably benign 0.05
R4934:Ces4a UTSW 8 105,864,613 (GRCm39) missense probably benign 0.30
R4936:Ces4a UTSW 8 105,864,729 (GRCm39) missense probably damaging 1.00
R5255:Ces4a UTSW 8 105,869,121 (GRCm39) missense probably benign 0.00
R5342:Ces4a UTSW 8 105,872,775 (GRCm39) missense probably benign 0.07
R5647:Ces4a UTSW 8 105,872,712 (GRCm39) missense probably benign 0.10
R6062:Ces4a UTSW 8 105,864,806 (GRCm39) critical splice donor site probably null
R6490:Ces4a UTSW 8 105,876,090 (GRCm39) missense probably benign 0.09
R6606:Ces4a UTSW 8 105,876,010 (GRCm39) missense possibly damaging 0.95
R6876:Ces4a UTSW 8 105,871,624 (GRCm39) missense possibly damaging 0.56
R6901:Ces4a UTSW 8 105,873,330 (GRCm39) missense probably benign
R7519:Ces4a UTSW 8 105,871,851 (GRCm39) missense probably damaging 1.00
R7682:Ces4a UTSW 8 105,873,297 (GRCm39) missense probably benign 0.00
R8171:Ces4a UTSW 8 105,873,839 (GRCm39) missense probably damaging 1.00
R8329:Ces4a UTSW 8 105,874,714 (GRCm39) missense probably damaging 1.00
R8833:Ces4a UTSW 8 105,858,614 (GRCm39) missense probably benign 0.00
R9168:Ces4a UTSW 8 105,876,050 (GRCm39) missense probably benign 0.00
R9557:Ces4a UTSW 8 105,869,527 (GRCm39) missense possibly damaging 0.92
R9758:Ces4a UTSW 8 105,869,054 (GRCm39) missense possibly damaging 0.50
Z1176:Ces4a UTSW 8 105,858,609 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02