Incidental Mutation 'R1736:Ces4a'
ID 199719
Institutional Source Beutler Lab
Gene Symbol Ces4a
Ensembl Gene ENSMUSG00000060560
Gene Name carboxylesterase 4A
Synonyms Ces8
MMRRC Submission 039768-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1736 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105858432-105876741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105864729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 69 (G69S)
Ref Sequence ENSEMBL: ENSMUSP00000125062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161289]
AlphaFold Q8R0W5
Predicted Effect probably damaging
Transcript: ENSMUST00000161289
AA Change: G69S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: G69S

DomainStartEndE-ValueType
Pfam:COesterase 8 554 4.9e-163 PFAM
Pfam:Abhydrolase_3 143 319 2e-9 PFAM
Meta Mutation Damage Score 0.7473 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
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
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Atp8b2 G A 3: 89,860,001 (GRCm39) P339S probably damaging Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Fscn2 G A 11: 120,258,852 (GRCm39) G466S probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Gosr2 G A 11: 103,570,076 (GRCm39) Q162* probably null Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Sf3b3 T C 8: 111,540,464 (GRCm39) I986V probably benign Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Uchl1 T C 5: 66,834,417 (GRCm39) probably null Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L probably benign 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
IGL03092:Ces4a APN 8 105,874,836 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGCAGATGTACCAGAATCCCATCC -3'
(R):5'- AACCGAAGCCAAGAATAGGTTCCAG -3'

Sequencing Primer
(F):5'- CATGGTTGAGAAGCATAAGAAGAC -3'
(R):5'- CCAAGAATAGGTTCCAGGTTTGC -3'
Posted On 2014-05-23