Incidental Mutation 'IGL02972:Ces2e'
ID 365841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2e
Ensembl Gene ENSMUSG00000031886
Gene Name carboxylesterase 2E
Synonyms Ces5, 9030624L02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02972
Quality Score
Status
Chromosome 8
Chromosomal Location 105652892-105661304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105653693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 44 (S44C)
Ref Sequence ENSEMBL: ENSMUSP00000105037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034355] [ENSMUST00000109410]
AlphaFold Q8BK48
Predicted Effect probably damaging
Transcript: ENSMUST00000034355
AA Change: S44C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: S44C

DomainStartEndE-ValueType
Pfam:COesterase 11 538 1.2e-174 PFAM
Pfam:Abhydrolase_3 143 252 4.6e-11 PFAM
Pfam:Peptidase_S9 159 296 2.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109410
AA Change: S44C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: S44C

DomainStartEndE-ValueType
Pfam:COesterase 9 538 1.7e-171 PFAM
Pfam:Abhydrolase_3 143 246 6.6e-11 PFAM
Pfam:Peptidase_S9 158 276 2.1e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Bmpr1b C T 3: 141,576,519 (GRCm39) D105N probably benign Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chst15 T C 7: 131,870,902 (GRCm39) D211G probably damaging Het
Dpp4 T C 2: 62,182,569 (GRCm39) S571G probably damaging Het
Gna11 T C 10: 81,369,225 (GRCm39) I113V probably benign Het
Grm3 T C 5: 9,562,410 (GRCm39) Y480C probably damaging Het
Mccc1 C T 3: 36,039,238 (GRCm39) V252I possibly damaging Het
Nol12 A G 15: 78,824,799 (GRCm39) T209A probably damaging Het
Or2y14 G A 11: 49,404,918 (GRCm39) G151D probably damaging Het
Or52a33 A G 7: 103,289,101 (GRCm39) M82T probably damaging Het
Or7e168 T C 9: 19,720,238 (GRCm39) F208S probably damaging Het
P3h1 C A 4: 119,105,157 (GRCm39) Q712K possibly damaging Het
Per2 T A 1: 91,351,703 (GRCm39) E934D possibly damaging Het
Pfkl T C 10: 77,824,108 (GRCm39) D760G probably benign Het
Piezo2 C A 18: 63,197,856 (GRCm39) probably benign Het
Pkd1l1 C T 11: 8,813,908 (GRCm39) R1481Q probably damaging Het
Plpp3 T C 4: 105,065,989 (GRCm39) V189A possibly damaging Het
Pnpla1 A G 17: 29,105,921 (GRCm39) E592G probably null Het
Prdm2 A T 4: 142,858,736 (GRCm39) M1518K probably benign Het
Rhbdl3 G A 11: 80,222,742 (GRCm39) probably benign Het
Rnf145 C T 11: 44,454,865 (GRCm39) S582F probably benign Het
Rsf1 A G 7: 97,310,533 (GRCm39) D421G probably benign Het
Serac1 A C 17: 6,121,039 (GRCm39) L85* probably null Het
Slc43a1 T G 2: 84,690,462 (GRCm39) V460G probably damaging Het
Slc7a6 G A 8: 106,906,059 (GRCm39) C97Y probably damaging Het
Slco5a1 A T 1: 13,060,379 (GRCm39) L114* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taok1 A G 11: 77,450,584 (GRCm39) V396A probably benign Het
Tmem232 T A 17: 65,783,668 (GRCm39) H233L probably benign Het
Tmprss11c C T 5: 86,385,692 (GRCm39) S247N possibly damaging Het
Tnc C T 4: 63,894,715 (GRCm39) S1557N probably benign Het
Txlng A G X: 161,590,551 (GRCm39) M94T probably damaging Het
Ube2b A T 11: 51,879,509 (GRCm39) I87K probably damaging Het
Ubr5 A T 15: 38,042,196 (GRCm39) S133R probably damaging Het
Ugt1a5 C T 1: 88,094,144 (GRCm39) T124I probably benign Het
Vamp1 G T 6: 125,196,610 (GRCm39) R117L probably benign Het
Vmn1r87 G T 7: 12,866,256 (GRCm39) Y10* probably null Het
Zan G A 5: 137,461,948 (GRCm39) T1077I unknown Het
Zc2hc1b C A 10: 13,047,025 (GRCm39) V29F probably damaging Het
Zfp597 T C 16: 3,684,387 (GRCm39) D123G probably benign Het
Other mutations in Ces2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Ces2e APN 8 105,656,197 (GRCm39) missense probably benign 0.42
IGL02045:Ces2e APN 8 105,657,290 (GRCm39) splice site probably benign
IGL02656:Ces2e APN 8 105,653,688 (GRCm39) missense possibly damaging 0.94
IGL02904:Ces2e APN 8 105,657,970 (GRCm39) missense probably benign
IGL03244:Ces2e APN 8 105,655,451 (GRCm39) missense probably benign 0.38
R0585:Ces2e UTSW 8 105,656,453 (GRCm39) missense probably damaging 1.00
R0762:Ces2e UTSW 8 105,656,496 (GRCm39) missense probably damaging 0.98
R1004:Ces2e UTSW 8 105,656,370 (GRCm39) missense probably damaging 1.00
R1168:Ces2e UTSW 8 105,653,646 (GRCm39) missense possibly damaging 0.49
R1731:Ces2e UTSW 8 105,656,208 (GRCm39) missense probably damaging 1.00
R2134:Ces2e UTSW 8 105,659,171 (GRCm39) critical splice donor site probably null
R3087:Ces2e UTSW 8 105,657,347 (GRCm39) missense probably benign 0.18
R3693:Ces2e UTSW 8 105,655,443 (GRCm39) missense probably damaging 1.00
R4622:Ces2e UTSW 8 105,655,341 (GRCm39) splice site probably null
R4873:Ces2e UTSW 8 105,653,817 (GRCm39) missense probably damaging 1.00
R4875:Ces2e UTSW 8 105,653,817 (GRCm39) missense probably damaging 1.00
R4965:Ces2e UTSW 8 105,660,330 (GRCm39) missense probably benign 0.09
R5365:Ces2e UTSW 8 105,653,846 (GRCm39) critical splice donor site probably null
R5529:Ces2e UTSW 8 105,656,543 (GRCm39) missense probably benign 0.00
R5601:Ces2e UTSW 8 105,656,126 (GRCm39) missense probably benign 0.42
R5968:Ces2e UTSW 8 105,659,627 (GRCm39) missense probably damaging 1.00
R6128:Ces2e UTSW 8 105,655,428 (GRCm39) missense probably benign 0.03
R7337:Ces2e UTSW 8 105,657,688 (GRCm39) splice site probably null
R7363:Ces2e UTSW 8 105,659,632 (GRCm39) splice site probably null
R7489:Ces2e UTSW 8 105,656,412 (GRCm39) missense probably benign 0.26
R7548:Ces2e UTSW 8 105,658,538 (GRCm39) missense probably benign
R8068:Ces2e UTSW 8 105,659,629 (GRCm39) critical splice donor site probably null
R9426:Ces2e UTSW 8 105,656,220 (GRCm39) missense probably damaging 1.00
Z1088:Ces2e UTSW 8 105,659,030 (GRCm39) critical splice acceptor site probably null
Z1088:Ces2e UTSW 8 105,657,979 (GRCm39) missense probably benign
Posted On 2015-12-18