Incidental Mutation 'IGL02490:Ces1h'
ID 295619
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 # IGL02490
Quality Score
Status
Chromosome 8
Chromosomal Location 94078471-94106353 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 94083627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000145041]
AlphaFold D3Z298
Predicted Effect probably null
Transcript: ENSMUST00000145041
SMART Domains Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging Het
Other mutations in Ces1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Ces1h APN 8 94,084,091 (GRCm39) missense probably benign 0.03
IGL00227:Ces1h APN 8 94,079,098 (GRCm39) missense unknown
IGL02343:Ces1h APN 8 94,078,654 (GRCm39) makesense 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