Mutagenetix > Incidental Mutation

Incidental Mutation 'R9402:Bche'

711269

Institutional Source

Beutler Lab

Gene Symbol

Bche

Ensembl Gene

ENSMUSG00000027792

Gene Name

butyrylcholinesterase

Synonyms

C730038G20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73543141-73615748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73608656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 257 (N257D)

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: N257D

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: N257D

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

probably benign
Transcript: ENSMUST00000138216

SMART Domains

Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792

Domain	Start	End	E-Value	Type
Pfam:COesterase	10	174	6.9e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,049,154 (GRCm39)	Q218L	probably benign	Het
Atg2b	A	G	12: 105,614,682 (GRCm39)	F1083S	probably damaging	Het
Cfap221	T	A	1: 119,860,551 (GRCm39)	M692L	probably benign	Het
Cfap46	G	T	7: 139,215,865 (GRCm39)	P1530Q	unknown	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,710,183 (GRCm39)		probably null	Het
Daam1	A	G	12: 72,006,604 (GRCm39)	T674A	probably benign	Het
Elp2	A	T	18: 24,759,220 (GRCm39)	I526L	probably benign	Het
Exoc4	T	A	6: 33,453,078 (GRCm39)	*523K	probably null	Het
Fbxl7	G	A	15: 26,552,589 (GRCm39)	S226L	probably damaging	Het
Fbxl9	T	A	8: 106,049,988 (GRCm39)	Y12F	probably benign	Het
Fry	G	A	5: 150,357,161 (GRCm39)	E1903K	possibly damaging	Het
Fry	G	A	5: 150,360,318 (GRCm39)	R1988K	probably damaging	Het
Gas1	A	T	13: 60,324,016 (GRCm39)	M206K	probably damaging	Het
Gbp10	T	A	5: 105,381,863 (GRCm39)	T96S	possibly damaging	Het
Gm14569	G	A	X: 35,694,549 (GRCm39)	P1387S	probably damaging	Het
Gpaa1	A	G	15: 76,216,418 (GRCm39)	T105A	probably benign	Het
Hoxc13	C	A	15: 102,830,051 (GRCm39)	C143*	probably null	Het
Htt	T	C	5: 35,006,324 (GRCm39)	I1411T	probably damaging	Het
Inava	T	G	1: 136,155,348 (GRCm39)	S86R	probably benign	Het
Jmy	C	T	13: 93,635,678 (GRCm39)	C46Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Krit1	T	A	5: 3,872,210 (GRCm39)	Y460N	possibly damaging	Het
Lamb3	C	A	1: 193,013,704 (GRCm39)	T526K		Het
Luzp1	T	A	4: 136,270,493 (GRCm39)	H905Q	probably damaging	Het
Lyst	T	A	13: 13,812,463 (GRCm39)	H958Q	probably benign	Het
Magi1	T	C	6: 94,260,278 (GRCm39)	N9S	probably benign	Het
Mmadhc	A	T	2: 50,171,119 (GRCm39)	V231E	probably benign	Het
Muc5b	T	A	7: 141,399,151 (GRCm39)	M364K	unknown	Het
Nae1	A	G	8: 105,254,817 (GRCm39)		probably null	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nlgn2	A	G	11: 69,718,933 (GRCm39)	F252S		Het
Nlrp9a	A	T	7: 26,270,030 (GRCm39)	N874I	possibly damaging	Het
Nodal	T	C	10: 61,259,379 (GRCm39)	I272T	probably damaging	Het
Or4a15	C	A	2: 89,193,123 (GRCm39)	G217*	probably null	Het
Or4c12	A	T	2: 89,774,284 (GRCm39)	Y58*	probably null	Het
Or51a24	G	A	7: 103,733,610 (GRCm39)	R226*	probably null	Het
Or52ab4	T	C	7: 102,988,196 (GRCm39)	S312P	probably benign	Het
Orm1	C	A	4: 63,263,369 (GRCm39)	Q61K	possibly damaging	Het
Pcdh17	T	C	14: 84,684,646 (GRCm39)	V371A	probably damaging	Het
Pcdhb19	C	T	18: 37,632,532 (GRCm39)	Q776*	probably null	Het
Phf14	A	G	6: 11,933,779 (GRCm39)	R214G	possibly damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Pigz	A	G	16: 31,764,187 (GRCm39)	E415G	probably damaging	Het
Pramel5	T	C	4: 143,998,026 (GRCm39)	T406A	probably benign	Het
Prtg	A	G	9: 72,819,253 (GRCm39)	E1082G	probably benign	Het
Rtp3	A	G	9: 110,815,031 (GRCm39)	C445R	unknown	Het
Scn3b	A	T	9: 40,193,852 (GRCm39)	E193V	probably damaging	Het
Scn7a	A	T	2: 66,510,456 (GRCm39)	N1315K	probably damaging	Het
Snx14	C	T	9: 88,289,490 (GRCm39)	G254D	probably damaging	Het
Srbd1	T	C	17: 86,406,705 (GRCm39)	D560G	probably benign	Het
Srp72	T	A	5: 77,124,329 (GRCm39)	L65*	probably null	Het
Steap1	T	A	5: 5,790,664 (GRCm39)	I95F		Het
Taf3	A	G	2: 9,955,923 (GRCm39)		probably null	Het
Taok2	T	C	7: 126,469,400 (GRCm39)	N1143D		Het
Tas2r114	C	T	6: 131,666,894 (GRCm39)	G45S	possibly damaging	Het
Tcerg1l	T	C	7: 137,811,551 (GRCm39)	K548E	probably damaging	Het
Tcp1	T	A	17: 13,141,505 (GRCm39)	L328Q	probably benign	Het
Tns2	A	G	15: 102,021,623 (GRCm39)	H1096R	probably damaging	Het
Trps1	A	T	15: 50,709,652 (GRCm39)	Y233N	probably damaging	Het
Tubgcp6	A	G	15: 88,987,064 (GRCm39)	V1303A	probably benign	Het
Ugt1a2	T	C	1: 88,128,684 (GRCm39)	F109S	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp748	A	G	13: 67,693,511 (GRCm39)	V54A	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
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

Predicted Primers

PCR Primer
(F):5'- GGCATATCGGTGAGAAAATCGC -3'
(R):5'- ATCAACAGTTGGCACTTCAATG -3'

Sequencing Primer
(F):5'- GTGAGAAAATCGCCATCCACTGTTG -3'
(R):5'- TTGGCACTTCAATGGGTCCAAAG -3'

Posted On

2022-05-16