Incidental Mutation 'R0724:Ces3a'
ID 63818
Institutional Source Beutler Lab
Gene Symbol Ces3a
Ensembl Gene ENSMUSG00000069922
Gene Name carboxylesterase 3A
Synonyms Es31, Es-male carboxylesterase
MMRRC Submission 038906-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0724 (G1)
Quality Score 108
Status Validated
Chromosome 8
Chromosomal Location 105048601-105058413 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105050195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 103 (D103E)
Ref Sequence ENSEMBL: ENSMUSP00000090911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093222] [ENSMUST00000093223]
AlphaFold Q63880
Predicted Effect possibly damaging
Transcript: ENSMUST00000093222
AA Change: D103E

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: D103E

DomainStartEndE-ValueType
Pfam:COesterase 16 547 1.1e-163 PFAM
Pfam:Abhydrolase_3 147 305 5.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000093223
AA Change: D103E

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: D103E

DomainStartEndE-ValueType
Pfam:COesterase 16 320 1.4e-111 PFAM
Pfam:Abhydrolase_3 147 319 4.8e-14 PFAM
Pfam:COesterase 312 500 1.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213054
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,044,763 (GRCm38) E136G probably benign Het
Adgre4 T A 17: 55,852,281 (GRCm38) S655R probably benign Het
Ak7 T A 12: 105,710,254 (GRCm38) V71E probably benign Het
Ank2 C T 3: 126,962,337 (GRCm38) R1077H probably damaging Het
Anxa3 A G 5: 96,828,748 (GRCm38) T198A possibly damaging Het
Atp1a1 A T 3: 101,592,439 (GRCm38) I109N possibly damaging Het
Camta1 A G 4: 151,077,892 (GRCm38) I119T probably damaging Het
Carm1 A G 9: 21,587,374 (GRCm38) Y504C probably damaging Het
Casp1 C T 9: 5,303,077 (GRCm38) P177L probably benign Het
Ccdc122 C A 14: 77,092,077 (GRCm38) probably benign Het
Ces1a A G 8: 93,039,513 (GRCm38) S158P probably damaging Het
Clstn1 A C 4: 149,643,624 (GRCm38) D583A possibly damaging Het
Corin A G 5: 72,332,795 (GRCm38) probably benign Het
Cryba1 T C 11: 77,719,457 (GRCm38) D144G probably damaging Het
Cwf19l2 G T 9: 3,421,377 (GRCm38) probably null Het
Dis3l T C 9: 64,307,126 (GRCm38) T1027A possibly damaging Het
Dop1b A G 16: 93,762,325 (GRCm38) E653G probably benign Het
Dst A G 1: 34,188,677 (GRCm38) I1459V probably benign Het
Dyrk3 T C 1: 131,130,140 (GRCm38) T64A probably benign Het
Emp2 C T 16: 10,284,615 (GRCm38) C111Y probably benign Het
Enam A G 5: 88,501,994 (GRCm38) Y454C probably damaging Het
Fbn1 A T 2: 125,352,064 (GRCm38) C1328S probably benign Het
Gata3 T C 2: 9,874,575 (GRCm38) T197A probably benign Het
Gm1043 A G 5: 37,187,229 (GRCm38) T212A probably damaging Het
H2-Eb1 T C 17: 34,315,032 (GRCm38) probably benign Het
Hand1 T C 11: 57,831,680 (GRCm38) H36R probably damaging Het
Hmgcs2 C A 3: 98,297,001 (GRCm38) Y239* probably null Het
Hoxc12 A G 15: 102,937,055 (GRCm38) Y68C probably damaging Het
Inpp5a A G 7: 139,516,663 (GRCm38) I143V probably benign Het
Klhdc2 C A 12: 69,297,048 (GRCm38) F18L probably benign Het
Kpnb1 T C 11: 97,178,304 (GRCm38) Y251C probably damaging Het
Lrch4 A T 5: 137,637,308 (GRCm38) N315I probably damaging Het
Map3k10 A C 7: 27,668,355 (GRCm38) V286G probably damaging Het
Myo7b G A 18: 32,005,549 (GRCm38) probably benign Het
Nlrp2 G T 7: 5,319,222 (GRCm38) L809I probably damaging Het
Oacyl T C 18: 65,737,825 (GRCm38) probably benign Het
Or4q3 A G 14: 50,345,917 (GRCm38) V175A possibly damaging Het
Paxbp1 T A 16: 91,036,536 (GRCm38) D270V probably damaging Het
Pdia3 G A 2: 121,432,377 (GRCm38) G275S probably damaging Het
Pira13 T C 7: 3,816,872 (GRCm38) N564S possibly damaging Het
Plcb3 G A 19: 6,963,392 (GRCm38) R359C probably damaging Het
Plcxd3 G A 15: 4,516,868 (GRCm38) S118N probably damaging Het
Ptpn14 T C 1: 189,850,947 (GRCm38) S664P possibly damaging Het
Sirt1 T C 10: 63,323,973 (GRCm38) I443V possibly damaging Het
Slc7a8 G A 14: 54,735,186 (GRCm38) probably benign Het
Smim14 A G 5: 65,453,339 (GRCm38) probably benign Het
Sost C T 11: 101,966,918 (GRCm38) C19Y probably benign Het
Tcaf1 G T 6: 42,675,367 (GRCm38) A727E probably damaging Het
Thoc1 T C 18: 9,963,829 (GRCm38) L144P probably damaging Het
Tmem132b A T 5: 125,783,421 (GRCm38) T577S possibly damaging Het
Tnfrsf21 C T 17: 43,038,213 (GRCm38) H239Y probably benign Het
Tshr T C 12: 91,538,286 (GRCm38) F666S probably damaging Het
Wdr1 A G 5: 38,540,862 (GRCm38) V192A possibly damaging Het
Zfp697 T C 3: 98,428,166 (GRCm38) W416R probably damaging Het
Other mutations in Ces3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Ces3a APN 8 105,050,570 (GRCm38) missense probably damaging 1.00
IGL01557:Ces3a APN 8 105,057,751 (GRCm38) missense probably damaging 1.00
IGL02092:Ces3a APN 8 105,050,330 (GRCm38) splice site probably benign
IGL02140:Ces3a APN 8 105,055,631 (GRCm38) missense probably benign 0.07
K3955:Ces3a UTSW 8 105,050,627 (GRCm38) splice site probably benign
R1066:Ces3a UTSW 8 105,055,656 (GRCm38) missense probably benign 0.01
R1223:Ces3a UTSW 8 105,058,029 (GRCm38) missense probably benign 0.00
R1224:Ces3a UTSW 8 105,051,509 (GRCm38) missense probably damaging 1.00
R1340:Ces3a UTSW 8 105,057,913 (GRCm38) missense probably damaging 1.00
R1513:Ces3a UTSW 8 105,050,277 (GRCm38) missense probably damaging 1.00
R1740:Ces3a UTSW 8 105,048,685 (GRCm38) missense probably damaging 1.00
R2192:Ces3a UTSW 8 105,055,580 (GRCm38) missense probably benign
R3407:Ces3a UTSW 8 105,050,567 (GRCm38) missense probably damaging 1.00
R4002:Ces3a UTSW 8 105,057,461 (GRCm38) missense probably damaging 1.00
R4668:Ces3a UTSW 8 105,053,423 (GRCm38) missense probably damaging 1.00
R5045:Ces3a UTSW 8 105,050,616 (GRCm38) critical splice donor site probably null
R5331:Ces3a UTSW 8 105,057,556 (GRCm38) missense probably damaging 1.00
R5450:Ces3a UTSW 8 105,057,918 (GRCm38) missense possibly damaging 0.83
R5535:Ces3a UTSW 8 105,051,564 (GRCm38) missense probably benign 0.34
R5640:Ces3a UTSW 8 105,051,745 (GRCm38) missense probably benign 0.42
R5881:Ces3a UTSW 8 105,050,566 (GRCm38) missense probably damaging 1.00
R6795:Ces3a UTSW 8 105,050,596 (GRCm38) missense possibly damaging 0.94
R7112:Ces3a UTSW 8 105,057,962 (GRCm38) missense probably damaging 1.00
R7323:Ces3a UTSW 8 105,055,607 (GRCm38) missense possibly damaging 0.54
R7419:Ces3a UTSW 8 105,056,424 (GRCm38) missense probably damaging 1.00
R7475:Ces3a UTSW 8 105,053,690 (GRCm38) splice site probably null
R7793:Ces3a UTSW 8 105,055,661 (GRCm38) critical splice donor site probably null
R7934:Ces3a UTSW 8 105,048,713 (GRCm38) critical splice donor site probably null
R8512:Ces3a UTSW 8 105,058,029 (GRCm38) missense probably benign 0.00
R8757:Ces3a UTSW 8 105,057,497 (GRCm38) missense probably damaging 0.99
R8759:Ces3a UTSW 8 105,057,497 (GRCm38) missense probably damaging 0.99
R9353:Ces3a UTSW 8 105,049,915 (GRCm38) missense probably benign 0.17
Z1176:Ces3a UTSW 8 105,053,602 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GTGTGAGAGATGCCAGCATCAATCC -3'
(R):5'- ATGGCTTTGAATCAGTGGCCCCAG -3'

Sequencing Primer
(F):5'- CCCCAATGTGAGTACCCCTG -3'
(R):5'- AGCCCAGGGTATTTTAAGGACTTC -3'
Posted On 2013-07-30