Incidental Mutation 'IGL00338:Bche'
ID 332330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bche
Ensembl Gene ENSMUSG00000027792
Gene Name butyrylcholinesterase
Synonyms C730038G20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00338
Quality Score
Status
Chromosome 3
Chromosomal Location 73543141-73615748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73608640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 262 (V262A)
Ref Sequence ENSEMBL: ENSMUSP00000029367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]
AlphaFold Q03311
Predicted Effect probably benign
Transcript: ENSMUST00000029367
AA Change: V262A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: V262A

DomainStartEndE-ValueType
Pfam:COesterase 10 551 5.2e-183 PFAM
Pfam:Abhydrolase_3 139 242 1.9e-7 PFAM
Pfam:AChE_tetra 566 602 8.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133690
Predicted Effect probably benign
Transcript: ENSMUST00000138216
SMART Domains Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792

DomainStartEndE-ValueType
Pfam:COesterase 10 174 6.9e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153917
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,040,839 (GRCm39) D217G probably benign Het
Ankar T A 1: 72,729,290 (GRCm39) Y285F probably damaging Het
Ano8 C A 8: 71,936,902 (GRCm39) probably benign Het
Car13 T C 3: 14,721,964 (GRCm39) probably benign Het
Cd244a T A 1: 171,401,938 (GRCm39) probably null Het
Cfap157 T C 2: 32,671,395 (GRCm39) D137G probably damaging Het
Cobl T C 11: 12,325,813 (GRCm39) R119G possibly damaging Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gp2 A G 7: 119,053,613 (GRCm39) M116T probably damaging Het
Gp5 C A 16: 30,127,640 (GRCm39) A345S probably benign Het
Gphn A T 12: 78,551,406 (GRCm39) I285F probably damaging Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Hecw2 T C 1: 53,867,040 (GRCm39) probably benign Het
Hydin C A 8: 111,296,434 (GRCm39) N3654K possibly damaging Het
Inpp5b A G 4: 124,678,168 (GRCm39) Y440C possibly damaging Het
Or4a47 A T 2: 89,665,802 (GRCm39) Y162* probably null Het
Pphln1 A G 15: 93,363,091 (GRCm39) K306E probably damaging Het
Rnf26 A C 9: 44,024,156 (GRCm39) S31A probably benign Het
Ros1 A T 10: 52,001,907 (GRCm39) S1072T probably benign Het
Skic2 A G 17: 35,065,643 (GRCm39) W304R probably damaging Het
Slc22a14 A G 9: 119,007,579 (GRCm39) F277L possibly damaging Het
Slc22a26 A T 19: 7,760,340 (GRCm39) L468I probably benign Het
Tchh C T 3: 93,354,951 (GRCm39) L1464F unknown Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Ttn A G 2: 76,804,409 (GRCm39) S288P probably damaging Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vps50 C T 6: 3,602,670 (GRCm39) T929M probably benign Het
Zdhhc8 A G 16: 18,043,060 (GRCm39) L380P possibly damaging Het
Other mutations in Bche
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Bche APN 3 73,609,342 (GRCm39) missense probably benign 0.03
IGL02433:Bche APN 3 73,609,262 (GRCm39) missense probably benign 0.02
IGL02734:Bche APN 3 73,609,409 (GRCm39) missense probably benign 0.09
IGL03095:Bche APN 3 73,609,216 (GRCm39) missense probably damaging 1.00
IGL03227:Bche APN 3 73,608,945 (GRCm39) missense probably damaging 1.00
R0056:Bche UTSW 3 73,608,654 (GRCm39) missense possibly damaging 0.79
R1780:Bche UTSW 3 73,607,953 (GRCm39) missense probably benign 0.00
R1984:Bche UTSW 3 73,609,160 (GRCm39) missense probably benign
R1984:Bche UTSW 3 73,609,159 (GRCm39) missense probably benign 0.03
R2403:Bche UTSW 3 73,608,805 (GRCm39) missense probably damaging 0.96
R4989:Bche UTSW 3 73,609,177 (GRCm39) missense probably benign 0.02
R5231:Bche UTSW 3 73,608,194 (GRCm39) missense probably benign 0.07
R5363:Bche UTSW 3 73,607,972 (GRCm39) missense probably damaging 0.98
R5987:Bche UTSW 3 73,556,011 (GRCm39) missense possibly damaging 0.59
R6164:Bche UTSW 3 73,608,389 (GRCm39) missense possibly damaging 0.63
R6381:Bche UTSW 3 73,609,132 (GRCm39) missense probably benign 0.00
R6571:Bche UTSW 3 73,608,824 (GRCm39) missense probably benign 0.08
R6801:Bche UTSW 3 73,609,133 (GRCm39) missense probably benign
R6935:Bche UTSW 3 73,609,133 (GRCm39) missense probably benign
R7275:Bche UTSW 3 73,607,969 (GRCm39) missense probably benign 0.19
R7499:Bche UTSW 3 73,609,231 (GRCm39) missense probably damaging 1.00
R7543:Bche UTSW 3 73,609,066 (GRCm39) missense probably damaging 1.00
R7757:Bche UTSW 3 73,608,454 (GRCm39) missense probably damaging 1.00
R7965:Bche UTSW 3 73,609,149 (GRCm39) missense probably damaging 0.98
R8878:Bche UTSW 3 73,608,506 (GRCm39) missense probably benign
R8944:Bche UTSW 3 73,608,008 (GRCm39) missense probably damaging 1.00
R8947:Bche UTSW 3 73,608,761 (GRCm39) missense probably damaging 0.97
R8964:Bche UTSW 3 73,608,406 (GRCm39) missense probably benign 0.00
R9402:Bche UTSW 3 73,608,656 (GRCm39) missense probably benign 0.06
Posted On 2015-08-05