Incidental Mutation 'IGL01933:Ces2a'
ID 180517
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 # IGL01933
Quality Score
Status
Chromosome 8
Chromosomal Location 105460635-105468266 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 105468047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 526 (*526W)
Ref Sequence ENSEMBL: ENSMUSP00000127346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034346] [ENSMUST00000161824] [ENSMUST00000164182]
AlphaFold Q8QZR3
Predicted Effect probably null
Transcript: ENSMUST00000034346
AA Change: *559W
SMART Domains Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
AA Change: *559W

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 benign
Transcript: ENSMUST00000159303
Predicted Effect probably benign
Transcript: ENSMUST00000161824
Predicted Effect probably null
Transcript: ENSMUST00000164182
AA Change: *526W
SMART Domains Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
AA Change: *526W

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,650 (GRCm39) V575F possibly damaging Het
Abca2 T A 2: 25,334,123 (GRCm39) V1800E probably damaging Het
Acacb C T 5: 114,322,251 (GRCm39) probably benign Het
Adam34 C A 8: 44,104,569 (GRCm39) G359W probably damaging Het
Ankrd42 G A 7: 92,254,493 (GRCm39) T372I probably benign Het
Apc2 A G 10: 80,147,574 (GRCm39) D847G probably damaging Het
Arap3 T A 18: 38,111,506 (GRCm39) T1137S possibly damaging Het
Atp10b A C 11: 43,085,457 (GRCm39) T279P probably damaging Het
Bmp2 T A 2: 133,396,578 (GRCm39) M78K possibly damaging Het
Ccdc61 T G 7: 18,626,483 (GRCm39) M369L probably benign Het
Cep78 A T 19: 15,933,304 (GRCm39) I758N probably benign Het
Cgnl1 C T 9: 71,552,765 (GRCm39) probably benign Het
Clec14a A G 12: 58,315,104 (GRCm39) Y173H probably damaging Het
Cntn4 G A 6: 106,671,345 (GRCm39) S976N probably damaging Het
Col6a4 G A 9: 105,937,313 (GRCm39) T1401I probably benign Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dixdc1 G A 9: 50,614,558 (GRCm39) R163* probably null Het
Dmxl1 C A 18: 50,010,852 (GRCm39) T1003K probably benign Het
Dnah1 G A 14: 31,032,872 (GRCm39) R388W probably benign Het
Eci3 C T 13: 35,132,772 (GRCm39) A202T probably damaging Het
Egr2 T C 10: 67,376,024 (GRCm39) S220P probably damaging Het
Fntb C T 12: 76,966,880 (GRCm39) P405S probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm26602 C A 10: 79,746,955 (GRCm39) R236L probably benign Het
Hao2 T C 3: 98,787,648 (GRCm39) probably benign Het
Irgm2 A T 11: 58,110,783 (GRCm39) N170I possibly damaging Het
Klhl20 G A 1: 160,934,357 (GRCm39) R221W probably damaging Het
Kmt2b A G 7: 30,268,939 (GRCm39) probably null Het
Lrrc46 C T 11: 96,926,354 (GRCm39) E181K probably benign Het
Lztr1 T A 16: 17,338,455 (GRCm39) V226E probably damaging Het
Myh9 G T 15: 77,665,418 (GRCm39) D684E probably benign Het
Myo7a T C 7: 97,732,349 (GRCm39) T713A probably damaging Het
Nrap G T 19: 56,377,250 (GRCm39) N62K probably damaging Het
Or51a10 T C 7: 103,699,021 (GRCm39) Y180C probably damaging Het
Or5an1 A T 19: 12,261,069 (GRCm39) Y219F probably damaging Het
Osbp2 T C 11: 3,662,016 (GRCm39) D708G probably damaging Het
Pcnx2 G A 8: 126,488,393 (GRCm39) P1717L probably damaging Het
Pex1 A G 5: 3,683,789 (GRCm39) D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 (GRCm39) H771R probably benign Het
R3hcc1l G A 19: 42,551,389 (GRCm39) A129T probably damaging Het
Rbm15 G A 3: 107,238,419 (GRCm39) R660W probably damaging Het
Recql C T 6: 142,310,364 (GRCm39) V489M probably benign Het
Sash1 A T 10: 8,626,897 (GRCm39) S162R probably damaging Het
Sec11a T C 7: 80,584,810 (GRCm39) I42M probably benign Het
Slc25a23 G A 17: 57,359,813 (GRCm39) Q61* probably null Het
Son A T 16: 91,454,903 (GRCm39) M1217L probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Srgap2 T C 1: 131,339,593 (GRCm39) N123S probably damaging Het
Ssh1 T C 5: 114,088,441 (GRCm39) probably benign Het
St13 T C 15: 81,273,899 (GRCm39) probably null Het
St3gal3 A T 4: 117,889,072 (GRCm39) D57E probably damaging Het
Stk4 C T 2: 163,940,505 (GRCm39) probably benign Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Tln1 T C 4: 43,555,894 (GRCm39) T107A possibly damaging Het
Tmem135 G T 7: 88,793,065 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,467 (GRCm39) M696T probably benign Het
Trbv28 T A 6: 41,248,761 (GRCm39) L97Q probably damaging Het
Trpc4ap A T 2: 155,481,455 (GRCm39) F534I possibly damaging Het
Trpm8 T C 1: 88,254,127 (GRCm39) Y117H probably damaging Het
Zfp608 T C 18: 55,120,871 (GRCm39) T239A probably benign Het
Zmym5 T G 14: 57,041,617 (GRCm39) H162P probably damaging Het
Other mutations in Ces2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02625:Ces2a APN 8 105,466,910 (GRCm39) critical splice donor site probably null
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 2014-05-07