Incidental Mutation 'IGL00227:Ces1h'
ID 306790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces1h
Ensembl Gene ENSMUSG00000074156
Gene Name carboxylesterase 1H
Synonyms 2310039D24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL00227
Quality Score
Status
Chromosome 8
Chromosomal Location 94078471-94106353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94079098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 495 (M495K)
Ref Sequence ENSEMBL: ENSMUSP00000121729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145041]
AlphaFold D3Z298
Predicted Effect unknown
Transcript: ENSMUST00000145041
AA Change: M495K
SMART Domains Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: M495K

DomainStartEndE-ValueType
Pfam:COesterase 1 289 2.4e-56 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,995,957 (GRCm39) probably null Het
Alms1 A G 6: 85,654,946 (GRCm39) E2695G probably damaging Het
B3galnt2 A G 13: 14,162,016 (GRCm39) N246D probably benign Het
Chga A G 12: 102,529,058 (GRCm39) E345G probably damaging Het
Chrnb3 T C 8: 27,875,129 (GRCm39) F43L probably benign Het
Ctu1 C A 7: 43,324,928 (GRCm39) F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 (GRCm39) Q40K probably benign Het
Dlg2 T C 7: 91,614,853 (GRCm39) I264T probably damaging Het
Dnah1 C T 14: 31,008,853 (GRCm39) V1974M probably damaging Het
Foxf2 C A 13: 31,810,172 (GRCm39) P37Q unknown Het
Gtf2e2 T C 8: 34,266,473 (GRCm39) probably benign Het
Hectd3 C A 4: 116,857,785 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,786 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,784 (GRCm39) probably benign Het
Ift122 A T 6: 115,894,018 (GRCm39) H901L probably benign Het
Itih1 C T 14: 30,664,846 (GRCm39) probably null Het
Krt84 C A 15: 101,436,208 (GRCm39) M460I probably benign Het
Moxd1 C T 10: 24,158,491 (GRCm39) H382Y probably damaging Het
Npy6r A T 18: 44,409,511 (GRCm39) T311S probably damaging Het
Or1p1 C T 11: 74,179,952 (GRCm39) T160I probably damaging Het
Or52n3 C T 7: 104,530,724 (GRCm39) T270I probably benign Het
Pbk T C 14: 66,051,340 (GRCm39) I126T probably damaging Het
Pde1b C T 15: 103,435,107 (GRCm39) S400F probably damaging Het
Plxna2 T A 1: 194,326,965 (GRCm39) C300S probably damaging Het
Pnpla6 C T 8: 3,573,808 (GRCm39) R419W probably damaging Het
Ppp4r3a A G 12: 101,016,053 (GRCm39) L33P probably damaging Het
Ralb T A 1: 119,403,770 (GRCm39) D119V probably benign Het
Relb A C 7: 19,356,849 (GRCm39) probably null Het
Rims1 T A 1: 22,507,323 (GRCm39) D609V probably damaging Het
Scnn1a A G 6: 125,315,342 (GRCm39) T377A probably benign Het
Slc13a2 T C 11: 78,291,374 (GRCm39) T367A probably damaging Het
Sort1 T C 3: 108,263,623 (GRCm39) L807P probably damaging Het
Sptbn1 C A 11: 30,060,818 (GRCm39) E2051* probably null Het
St6galnac1 T C 11: 116,658,532 (GRCm39) I311V probably damaging Het
Other mutations in Ces1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces1h APN 8 94,084,091 (GRCm39) missense probably benign 0.03
IGL02343:Ces1h APN 8 94,078,654 (GRCm39) makesense probably null
IGL02490:Ces1h APN 8 94,083,627 (GRCm39) critical splice donor site probably null
H8786:Ces1h UTSW 8 94,089,550 (GRCm39) missense probably damaging 0.99
P0012:Ces1h UTSW 8 94,080,138 (GRCm39) missense unknown
R0395:Ces1h UTSW 8 94,083,706 (GRCm39) missense unknown
R0538:Ces1h UTSW 8 94,083,628 (GRCm39) critical splice donor site probably null
R0562:Ces1h UTSW 8 94,083,771 (GRCm39) missense unknown
R0569:Ces1h UTSW 8 94,078,774 (GRCm39) missense unknown
R1854:Ces1h UTSW 8 94,085,450 (GRCm39) missense probably benign 0.13
R5945:Ces1h UTSW 8 94,090,254 (GRCm39) missense probably benign 0.04
R5950:Ces1h UTSW 8 94,089,587 (GRCm39) missense probably benign
R6015:Ces1h UTSW 8 94,083,691 (GRCm39) missense unknown
R6275:Ces1h UTSW 8 94,099,274 (GRCm39) missense probably benign 0.23
R6317:Ces1h UTSW 8 94,084,046 (GRCm39) missense unknown
R6647:Ces1h UTSW 8 94,078,654 (GRCm39) makesense probably null
R6981:Ces1h UTSW 8 94,080,123 (GRCm39) missense unknown
R7800:Ces1h UTSW 8 94,106,322 (GRCm39) missense
R7861:Ces1h UTSW 8 94,084,053 (GRCm39) missense unknown
R8121:Ces1h UTSW 8 94,080,104 (GRCm39) missense unknown
R8897:Ces1h UTSW 8 94,080,093 (GRCm39) missense unknown
R9355:Ces1h UTSW 8 94,101,149 (GRCm39) missense
X0027:Ces1h UTSW 8 94,089,506 (GRCm39) missense probably benign 0.00
X0066:Ces1h UTSW 8 94,078,662 (GRCm39) missense unknown
Z1177:Ces1h UTSW 8 94,093,468 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16