Incidental Mutation 'R4934:Ces4a'
ID 380815
Institutional Source Beutler Lab
Gene Symbol Ces4a
Ensembl Gene ENSMUSG00000060560
Gene Name carboxylesterase 4A
Synonyms Ces8
MMRRC Submission 042534-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4934 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105858432-105876741 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105864613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 30 (H30R)
Ref Sequence ENSEMBL: ENSMUSP00000125062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161289]
AlphaFold Q8R0W5
Predicted Effect probably benign
Transcript: ENSMUST00000161289
AA Change: H30R

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: H30R

DomainStartEndE-ValueType
Pfam:COesterase 8 554 4.9e-163 PFAM
Pfam:Abhydrolase_3 143 319 2e-9 PFAM
Meta Mutation Damage Score 0.1121 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 99% (134/135)
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: 125 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik A T 1: 31,261,580 (GRCm39) probably benign Het
Acy1 T A 9: 106,312,321 (GRCm39) I14F probably null Het
Ago1 T C 4: 126,342,652 (GRCm39) D193G possibly damaging Het
Arhgap45 A T 10: 79,856,791 (GRCm39) H201L probably damaging Het
Armc9 G A 1: 86,140,801 (GRCm39) D63N probably damaging Het
Asb17 A T 3: 153,556,336 (GRCm39) I148F possibly damaging Het
Atf7ip2 A G 16: 10,059,447 (GRCm39) E329G possibly damaging Het
Atp2a1 T A 7: 126,052,600 (GRCm39) D373V probably benign Het
Cacna1e G T 1: 154,357,380 (GRCm39) Y603* probably null Het
Cbln4 G A 2: 171,880,901 (GRCm39) T131I probably damaging Het
Ccdc126 A G 6: 49,311,181 (GRCm39) E63G probably damaging Het
Ccl4 T A 11: 83,553,504 (GRCm39) S6T unknown Het
Ccnb1 A T 13: 100,918,209 (GRCm39) I146K possibly damaging Het
Ccr8 T A 9: 119,923,815 (GRCm39) M310K probably benign Het
Cd180 A T 13: 102,875,672 (GRCm39) probably null Het
Cd46 G C 1: 194,765,107 (GRCm39) probably benign Het
Cebpb A G 2: 167,531,005 (GRCm39) M22V probably benign Het
Cep152 A G 2: 125,453,016 (GRCm39) I352T possibly damaging Het
Cep295 T G 9: 15,244,456 (GRCm39) E1333D probably damaging Het
Chrm3 A G 13: 9,927,450 (GRCm39) Y529H probably damaging Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Clca3a2 A G 3: 144,523,692 (GRCm39) Y98H probably damaging Het
Clvs1 C T 4: 9,424,216 (GRCm39) H221Y possibly damaging Het
Col3a1 G A 1: 45,379,112 (GRCm39) probably benign Het
Cpn2 T G 16: 30,079,344 (GRCm39) N119T probably damaging Het
Cspg4b C A 13: 113,504,882 (GRCm39) Q2004K probably damaging Het
Cubn T A 2: 13,494,721 (GRCm39) Q109H probably benign Het
Cyp26b1 A G 6: 84,553,954 (GRCm39) V221A possibly damaging Het
Cyp2e1 T G 7: 140,350,030 (GRCm39) N238K probably damaging Het
Dst C T 1: 34,247,669 (GRCm39) A1693V probably damaging Het
Dync2li1 A G 17: 84,956,683 (GRCm39) Q281R probably benign Het
Enpp2 C T 15: 54,745,543 (GRCm39) G318S probably damaging Het
Entrep1 T C 19: 23,950,789 (GRCm39) *597W probably null Het
F13a1 G T 13: 37,061,736 (GRCm39) P676T probably benign Het
Fam227a T C 15: 79,521,262 (GRCm39) H267R possibly damaging Het
Fam78a G A 2: 31,959,427 (GRCm39) R228C probably damaging Het
Fbxw25 T C 9: 109,480,705 (GRCm39) N325S possibly damaging Het
Foxred1 T C 9: 35,121,210 (GRCm39) probably benign Het
Fstl5 T A 3: 76,496,272 (GRCm39) V345E probably damaging Het
Fzd8 GAAAAACTCA GA 18: 9,214,492 (GRCm39) probably null Het
Hand1 T C 11: 57,722,078 (GRCm39) R179G possibly damaging Het
Hk1 G T 10: 62,194,165 (GRCm39) probably benign Het
Hmcn1 A C 1: 150,598,286 (GRCm39) L1672R probably damaging Het
Hps5 G A 7: 46,418,775 (GRCm39) Q297* probably null Het
Iars1 T A 13: 49,871,460 (GRCm39) F699I probably benign Het
Ift140 G A 17: 25,267,462 (GRCm39) G620E probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4a T G 1: 37,426,922 (GRCm39) Y628D possibly damaging Het
Itk C T 11: 46,280,152 (GRCm39) R29H probably damaging Het
Kcnv1 A G 15: 44,972,644 (GRCm39) F413S probably damaging Het
Klhl3 A T 13: 58,250,231 (GRCm39) Y4* probably null Het
Lonrf1 C A 8: 36,701,103 (GRCm39) C369F probably damaging Het
Magohb A T 6: 131,261,558 (GRCm39) probably benign Het
Map3k4 G A 17: 12,490,787 (GRCm39) R215C probably damaging Het
Map3k8 A T 18: 4,339,548 (GRCm39) S274R possibly damaging Het
Masp1 T G 16: 23,283,826 (GRCm39) M470L probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Muc4 A T 16: 32,576,472 (GRCm39) probably benign Het
Myo1c T A 11: 75,562,676 (GRCm39) V981E probably damaging Het
Nedd9 A T 13: 41,492,411 (GRCm39) I27K probably damaging Het
Nkd2 C A 13: 73,970,841 (GRCm39) G247V probably damaging Het
Nucb2 A C 7: 116,139,199 (GRCm39) Q398P possibly damaging Het
Numa1 T A 7: 101,660,064 (GRCm39) D376E probably benign Het
Or2w1 G A 13: 21,317,241 (GRCm39) V99I probably benign Het
Or4c101 C T 2: 88,389,930 (GRCm39) T39I probably benign Het
Or4n5 T C 14: 50,133,206 (GRCm39) T18A probably benign Het
Or4p23 A T 2: 88,576,398 (GRCm39) L278* probably null Het
Or4q3 C T 14: 50,583,345 (GRCm39) V185M probably damaging Het
Or5b119 G A 19: 13,456,956 (GRCm39) T202I possibly damaging Het
Or6c76b A T 10: 129,692,896 (GRCm39) N170Y possibly damaging Het
Or8d23 A T 9: 38,842,129 (GRCm39) I221F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pamr1 C T 2: 102,472,549 (GRCm39) T616I probably benign Het
Pcnx1 G A 12: 82,038,599 (GRCm39) V1955I possibly damaging Het
Pira13 A G 7: 3,825,676 (GRCm39) Y398H probably damaging Het
Plekha3 T A 2: 76,510,571 (GRCm39) D35E possibly damaging Het
Pnpla2 T G 7: 141,038,085 (GRCm39) N184K probably damaging Het
Polr3a C T 14: 24,502,692 (GRCm39) E1216K probably benign Het
Ppp1r21 A T 17: 88,852,803 (GRCm39) S61C probably damaging Het
Ppp1r21 G C 17: 88,852,804 (GRCm39) S61T probably damaging Het
Prdm13 G T 4: 21,678,223 (GRCm39) probably benign Het
Prss53 T C 7: 127,487,879 (GRCm39) N201S probably benign Het
Rab11fip2 A G 19: 59,924,290 (GRCm39) L338S probably damaging Het
Rad50 T C 11: 53,575,102 (GRCm39) N546S probably benign Het
Ralgapa1 T C 12: 55,809,359 (GRCm39) D472G possibly damaging Het
Rexo4 A G 2: 26,850,346 (GRCm39) I277T probably damaging Het
Rimbp2 C T 5: 128,865,579 (GRCm39) V590I probably benign Het
Ripor3 A G 2: 167,824,736 (GRCm39) V864A probably benign Het
Rnpc3 G A 3: 113,418,628 (GRCm39) H107Y possibly damaging Het
Ryr1 A T 7: 28,767,520 (GRCm39) D2927E probably damaging Het
Samd9l G A 6: 3,375,621 (GRCm39) Q547* probably null Het
Scaper T C 9: 55,716,459 (GRCm39) E724G probably damaging Het
Secisbp2l C T 2: 125,582,409 (GRCm39) V1016I probably damaging Het
Selenoo T A 15: 88,982,970 (GRCm39) M499K probably damaging Het
Sema4a T A 3: 88,345,568 (GRCm39) D505V probably damaging Het
Sema5a T C 15: 32,679,310 (GRCm39) M863T probably damaging Het
Slc24a5 T C 2: 124,929,940 (GRCm39) C414R probably damaging Het
Slc34a2 A G 5: 53,224,942 (GRCm39) D361G probably damaging Het
Slc5a1 T C 5: 33,261,858 (GRCm39) Y20H probably benign Het
Slx4ip A T 2: 136,910,267 (GRCm39) probably benign Het
Snx14 T A 9: 88,280,341 (GRCm39) E538V probably damaging Het
Sspo C A 6: 48,442,486 (GRCm39) L1994I probably damaging Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Stap2 A G 17: 56,304,901 (GRCm39) S294P possibly damaging Het
Stat1 C A 1: 52,193,082 (GRCm39) Y651* probably null Het
Syne2 A G 12: 75,946,046 (GRCm39) T373A probably benign Het
Tacc2 A G 7: 130,330,318 (GRCm39) S201G probably damaging Het
Tdpoz3 G A 3: 93,734,287 (GRCm39) E321K probably benign Het
Thumpd1 T C 7: 119,316,002 (GRCm39) T316A probably benign Het
Tlr3 A T 8: 45,850,072 (GRCm39) C866S probably benign Het
Tmprss11g T A 5: 86,644,401 (GRCm39) I148F probably benign Het
Topbp1 T A 9: 103,205,568 (GRCm39) probably benign Het
Tpm1 T C 9: 66,935,331 (GRCm39) probably null Het
Traf3ip2 T A 10: 39,502,096 (GRCm39) S81R probably damaging Het
Trim29 T A 9: 43,222,265 (GRCm39) N31K probably benign Het
Ubn2 C T 6: 38,467,433 (GRCm39) P563S probably benign Het
Usp24 T C 4: 106,283,743 (GRCm39) Y2418H probably benign Het
Vmn2r6 T A 3: 64,463,766 (GRCm39) D267V probably damaging Het
Wapl T A 14: 34,414,052 (GRCm39) C305S probably benign Het
Yme1l1 C A 2: 23,058,333 (GRCm39) S155* probably null Het
Ythdf3 T A 3: 16,258,220 (GRCm39) H126Q probably damaging Het
Zbtb32 A T 7: 30,290,678 (GRCm39) C206S possibly damaging Het
Zbtb47 T C 9: 121,593,045 (GRCm39) V455A probably damaging Het
Zfp518a A T 19: 40,902,707 (GRCm39) I879F probably benign Het
Zfp938 A T 10: 82,062,012 (GRCm39) Y203N possibly 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
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
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
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'- CTGGGTTAGAAGAATGATGAGTTC -3'
(R):5'- TCCTCTGGCACTTACGAAGG -3'

Sequencing Primer
(F):5'- GTTCAGAACCAGCCTGAGTTATG -3'
(R):5'- CTGGCACTTACGAAGGTGGGTAG -3'
Posted On 2016-04-15