Incidental Mutation 'R4002:Ces3a'
ID 311310
Institutional Source Beutler Lab
Gene Symbol Ces3a
Ensembl Gene ENSMUSG00000069922
Gene Name carboxylesterase 3A
Synonyms Es-male carboxylesterase, Es31
MMRRC Submission 041609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4002 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 105775233-105785045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105784093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 431 (D431V)
Ref Sequence ENSEMBL: ENSMUSP00000090910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093222] [ENSMUST00000093223]
AlphaFold Q63880
Predicted Effect probably damaging
Transcript: ENSMUST00000093222
AA Change: D431V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: D431V

DomainStartEndE-ValueType
Pfam:COesterase 16 547 1.1e-163 PFAM
Pfam:Abhydrolase_3 147 305 5.2e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093223
AA Change: D384V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: D384V

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: ENSMUST00000212481
Meta Mutation Damage Score 0.3023 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (29/30)
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,274,964 (GRCm39) N222K possibly damaging Het
Abca13 A T 11: 9,535,415 (GRCm39) M4680L probably benign Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Afdn T C 17: 14,104,179 (GRCm39) S1157P probably damaging Het
Ank1 A G 8: 23,629,479 (GRCm39) T63A probably damaging Het
Asah1 A G 8: 41,801,176 (GRCm39) probably benign Het
Cdh18 T A 15: 23,383,048 (GRCm39) L277I possibly damaging Het
Dbx1 T C 7: 49,286,265 (GRCm39) S67G probably benign Het
Dmxl2 A G 9: 54,381,116 (GRCm39) probably benign Het
Dnah7a T A 1: 53,670,840 (GRCm39) T471S probably benign Het
Efcab8 A T 2: 153,623,726 (GRCm39) K70N probably benign Het
Grcc10 A T 6: 124,717,933 (GRCm39) M1K probably null Het
Higd2a G C 13: 54,738,540 (GRCm39) C53S probably damaging Het
Kcna4 C T 2: 107,126,259 (GRCm39) P331L probably damaging Het
Keg1 T A 19: 12,696,307 (GRCm39) S164T possibly damaging Het
Ltbp1 T C 17: 75,617,154 (GRCm39) V1031A probably benign Het
Obsl1 G A 1: 75,476,743 (GRCm39) T737I possibly damaging Het
Or10al7 G A 17: 38,365,879 (GRCm39) L193F probably damaging Het
Or7g33 C T 9: 19,449,202 (GRCm39) R8K probably benign Het
Or7g35 T G 9: 19,496,010 (GRCm39) M59R probably damaging Het
Serpinb6d A G 13: 33,854,630 (GRCm39) M202V probably damaging Het
Tcf19 A G 17: 35,826,822 (GRCm39) probably null Het
Tlr11 T C 14: 50,599,984 (GRCm39) F657L probably benign Het
Ttf2 G A 3: 100,855,541 (GRCm39) Q96* probably null Het
Ube2frt G A 12: 36,140,635 (GRCm39) probably benign Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfp810 C T 9: 22,190,188 (GRCm39) C240Y probably damaging Het
Other mutations in Ces3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Ces3a APN 8 105,777,202 (GRCm39) missense probably damaging 1.00
IGL01557:Ces3a APN 8 105,784,383 (GRCm39) missense probably damaging 1.00
IGL02092:Ces3a APN 8 105,776,962 (GRCm39) splice site probably benign
IGL02140:Ces3a APN 8 105,782,263 (GRCm39) missense probably benign 0.07
K3955:Ces3a UTSW 8 105,777,259 (GRCm39) splice site probably benign
R0724:Ces3a UTSW 8 105,776,827 (GRCm39) missense possibly damaging 0.73
R1066:Ces3a UTSW 8 105,782,288 (GRCm39) missense probably benign 0.01
R1223:Ces3a UTSW 8 105,784,661 (GRCm39) missense probably benign 0.00
R1224:Ces3a UTSW 8 105,778,141 (GRCm39) missense probably damaging 1.00
R1340:Ces3a UTSW 8 105,784,545 (GRCm39) missense probably damaging 1.00
R1513:Ces3a UTSW 8 105,776,909 (GRCm39) missense probably damaging 1.00
R1740:Ces3a UTSW 8 105,775,317 (GRCm39) missense probably damaging 1.00
R2192:Ces3a UTSW 8 105,782,212 (GRCm39) missense probably benign
R3407:Ces3a UTSW 8 105,777,199 (GRCm39) missense probably damaging 1.00
R4668:Ces3a UTSW 8 105,780,055 (GRCm39) missense probably damaging 1.00
R5045:Ces3a UTSW 8 105,777,248 (GRCm39) critical splice donor site probably null
R5331:Ces3a UTSW 8 105,784,188 (GRCm39) missense probably damaging 1.00
R5450:Ces3a UTSW 8 105,784,550 (GRCm39) missense possibly damaging 0.83
R5535:Ces3a UTSW 8 105,778,196 (GRCm39) missense probably benign 0.34
R5640:Ces3a UTSW 8 105,778,377 (GRCm39) missense probably benign 0.42
R5881:Ces3a UTSW 8 105,777,198 (GRCm39) missense probably damaging 1.00
R6795:Ces3a UTSW 8 105,777,228 (GRCm39) missense possibly damaging 0.94
R7112:Ces3a UTSW 8 105,784,594 (GRCm39) missense probably damaging 1.00
R7323:Ces3a UTSW 8 105,782,239 (GRCm39) missense possibly damaging 0.54
R7419:Ces3a UTSW 8 105,783,056 (GRCm39) missense probably damaging 1.00
R7475:Ces3a UTSW 8 105,780,322 (GRCm39) splice site probably null
R7793:Ces3a UTSW 8 105,782,293 (GRCm39) critical splice donor site probably null
R7934:Ces3a UTSW 8 105,775,345 (GRCm39) critical splice donor site probably null
R8512:Ces3a UTSW 8 105,784,661 (GRCm39) missense probably benign 0.00
R8757:Ces3a UTSW 8 105,784,129 (GRCm39) missense probably damaging 0.99
R8759:Ces3a UTSW 8 105,784,129 (GRCm39) missense probably damaging 0.99
R9353:Ces3a UTSW 8 105,776,547 (GRCm39) missense probably benign 0.17
Z1176:Ces3a UTSW 8 105,780,234 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TCAAAAGCAGTGGTGTGACC -3'
(R):5'- TAGCCTAGGGATGGGATATCTG -3'

Sequencing Primer
(F):5'- GTAACGTTCATGCCAGCACTTAGG -3'
(R):5'- ATATCTGTTTGTTCTTACCCAGGAG -3'
Posted On 2015-04-29