Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Bche'

80404

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 #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

73543141-73615748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73609342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 28 (H28R)

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: H28R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: H28R

Domain	Start	End	E-Value	Type
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: H28R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
AA Change: H28R

Domain	Start	End	E-Value	Type
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Actr6	A	T	10: 89,561,027 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Il34	T	C	8: 111,469,345 (GRCm39)	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,316,766 (GRCm39)	T116A	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Nmur1	T	C	1: 86,315,113 (GRCm39)	T218A	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Plxdc2	T	A	2: 16,654,950 (GRCm39)	V232D	probably damaging	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	probably benign	Het

Other mutations in Bche

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Bche	APN	3	73,608,640 (GRCm39)	missense	probably benign	0.00
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

2013-11-05