Incidental Mutation 'IGL02433:Bche'
ID 293194
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 # IGL02433
Quality Score
Status
Chromosome 3
Chromosomal Location 73543141-73615748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73609262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 55 (T55A)
Ref Sequence ENSEMBL: ENSMUSP00000141329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]
AlphaFold Q03311
Predicted Effect probably benign
Transcript: ENSMUST00000029367
AA Change: T55A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: T55A

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
AA Change: T55A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
AA Change: T55A

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc177 T C 12: 80,804,372 (GRCm39) D634G unknown Het
Cnot2 T C 10: 116,328,241 (GRCm39) T498A possibly damaging Het
Dock10 C T 1: 80,507,905 (GRCm39) V1669M probably damaging Het
Emilin2 T C 17: 71,581,124 (GRCm39) E534G probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gm10073 T C 8: 107,299,951 (GRCm39) Y11C probably benign Het
Ighv10-3 T A 12: 114,487,514 (GRCm39) probably benign Het
Krt31 T C 11: 99,939,221 (GRCm39) Y232C probably damaging Het
Muc19 G A 15: 91,756,694 (GRCm39) noncoding transcript Het
Myof A G 19: 37,960,641 (GRCm39) S467P probably benign Het
Nup88 C T 11: 70,860,714 (GRCm39) V22I probably benign Het
Or4f14 G T 2: 111,742,762 (GRCm39) P171Q probably damaging Het
Or6c6c A T 10: 129,541,445 (GRCm39) T233S probably benign Het
Or8h9 A G 2: 86,789,392 (GRCm39) S137P possibly damaging Het
Prag1 C T 8: 36,606,722 (GRCm39) P821L probably damaging Het
Pramel22 C T 4: 143,382,007 (GRCm39) G230S possibly damaging Het
Tap2 G A 17: 34,424,393 (GRCm39) probably benign Het
Tmem68 A T 4: 3,569,624 (GRCm39) I22N possibly damaging Het
Usp17le A G 7: 104,418,408 (GRCm39) W245R probably benign Het
Xpo5 G T 17: 46,550,446 (GRCm39) C976F probably damaging Het
Xrcc1 T C 7: 24,264,979 (GRCm39) S94P possibly damaging Het
Zfp524 T A 7: 5,021,091 (GRCm39) N206K possibly damaging Het
Other mutations in Bche
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Bche APN 3 73,608,640 (GRCm39) missense probably benign 0.00
IGL01420:Bche APN 3 73,609,342 (GRCm39) missense probably benign 0.03
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 2015-04-16