Incidental Mutation 'IGL02625:Ces2a'
ID 301057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces2a
Ensembl Gene ENSMUSG00000055730
Gene Name carboxylesterase 2A
Synonyms 9130231C15Rik, Ces6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02625
Quality Score
Status
Chromosome 8
Chromosomal Location 105460635-105468266 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 105466910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]
AlphaFold Q8QZR3
Predicted Effect probably null
Transcript: ENSMUST00000034346
SMART Domains Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730

DomainStartEndE-ValueType
Pfam:COesterase 9 537 1.2e-171 PFAM
Pfam:Abhydrolase_3 142 267 2.9e-11 PFAM
Pfam:Peptidase_S9 156 347 7e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159303
Predicted Effect probably benign
Transcript: ENSMUST00000161824
Predicted Effect probably null
Transcript: ENSMUST00000164182
SMART Domains Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730

DomainStartEndE-ValueType
Pfam:COesterase 8 276 5e-110 PFAM
Pfam:Abhydrolase_3 142 267 2.6e-11 PFAM
Pfam:Peptidase_S9 156 275 3e-7 PFAM
Pfam:COesterase 259 504 8.3e-47 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Ces2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Ces2a APN 8 105,468,047 (GRCm39) makesense probably null
IGL02135:Ces2a APN 8 105,466,813 (GRCm39) missense probably benign 0.00
IGL02529:Ces2a APN 8 105,463,851 (GRCm39) splice site probably benign
IGL02869:Ces2a APN 8 105,465,691 (GRCm39) missense probably damaging 1.00
IGL03265:Ces2a APN 8 105,464,075 (GRCm39) missense possibly damaging 0.55
IGL03349:Ces2a APN 8 105,460,712 (GRCm39) missense probably damaging 0.99
R0010:Ces2a UTSW 8 105,468,028 (GRCm39) missense probably benign 0.00
R0318:Ces2a UTSW 8 105,467,456 (GRCm39) missense probably damaging 1.00
R0477:Ces2a UTSW 8 105,464,169 (GRCm39) missense probably damaging 0.99
R0561:Ces2a UTSW 8 105,464,165 (GRCm39) missense probably benign 0.35
R0619:Ces2a UTSW 8 105,462,742 (GRCm39) missense probably benign 0.00
R1665:Ces2a UTSW 8 105,464,187 (GRCm39) splice site probably benign
R1737:Ces2a UTSW 8 105,467,456 (GRCm39) missense probably damaging 0.98
R2266:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2267:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2269:Ces2a UTSW 8 105,466,822 (GRCm39) missense probably benign 0.02
R2288:Ces2a UTSW 8 105,464,069 (GRCm39) missense probably damaging 1.00
R2656:Ces2a UTSW 8 105,462,766 (GRCm39) missense probably benign 0.00
R3176:Ces2a UTSW 8 105,466,010 (GRCm39) splice site probably benign
R3906:Ces2a UTSW 8 105,465,940 (GRCm39) missense probably benign 0.00
R4344:Ces2a UTSW 8 105,463,766 (GRCm39) missense probably damaging 1.00
R4708:Ces2a UTSW 8 105,463,938 (GRCm39) missense probably benign 0.14
R4780:Ces2a UTSW 8 105,463,840 (GRCm39) missense probably damaging 1.00
R5434:Ces2a UTSW 8 105,464,041 (GRCm39) missense probably damaging 0.98
R5763:Ces2a UTSW 8 105,462,756 (GRCm39) missense probably benign 0.00
R5828:Ces2a UTSW 8 105,465,956 (GRCm39) missense probably benign 0.00
R6359:Ces2a UTSW 8 105,462,710 (GRCm39) missense probably benign 0.00
R6440:Ces2a UTSW 8 105,467,954 (GRCm39) missense probably benign 0.12
R7066:Ces2a UTSW 8 105,466,880 (GRCm39) missense probably damaging 0.99
R7267:Ces2a UTSW 8 105,465,672 (GRCm39) missense probably benign 0.20
R7395:Ces2a UTSW 8 105,466,273 (GRCm39) missense probably benign 0.35
R7455:Ces2a UTSW 8 105,464,154 (GRCm39) missense probably damaging 1.00
R7457:Ces2a UTSW 8 105,464,021 (GRCm39) missense possibly damaging 0.87
R7567:Ces2a UTSW 8 105,467,930 (GRCm39) missense probably benign 0.01
R7683:Ces2a UTSW 8 105,463,744 (GRCm39) missense probably benign 0.00
R8328:Ces2a UTSW 8 105,463,998 (GRCm39) missense probably damaging 1.00
R8336:Ces2a UTSW 8 105,465,665 (GRCm39) missense probably damaging 0.97
R9183:Ces2a UTSW 8 105,460,774 (GRCm39) missense possibly damaging 0.95
R9794:Ces2a UTSW 8 105,467,896 (GRCm39) missense probably benign 0.16
X0022:Ces2a UTSW 8 105,462,774 (GRCm39) missense probably damaging 1.00
Z1176:Ces2a UTSW 8 105,461,482 (GRCm39) missense probably damaging 1.00
Z1176:Ces2a UTSW 8 105,460,638 (GRCm39) unclassified probably benign
Posted On 2015-04-16