Mutagenetix > Incidental Mutation

Incidental Mutation 'R8947:Bche'

681353

Institutional Source

Beutler Lab

Gene Symbol

Bche

Ensembl Gene

ENSMUSG00000027792

Gene Name

butyrylcholinesterase

Synonyms

C730038G20Rik

MMRRC Submission

068785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73543141-73615748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73608761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 222 (T222S)

Ref Sequence

ENSEMBL: ENSMUSP00000029367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029367] [ENSMUST00000138216]

AlphaFold

Q03311

Predicted Effect

probably damaging
Transcript: ENSMUST00000029367
AA Change: T222S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: T222S

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: 99.6%
20x: 98.8%

Validation Efficiency

99% (93/94)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,665,292 (GRCm39)	F141L	unknown	Het
A2ml1	G	T	6: 128,529,219 (GRCm39)	N974K	probably damaging	Het
Abcg8	T	C	17: 84,999,246 (GRCm39)	L114P	probably damaging	Het
Akt3	A	T	1: 176,958,645 (GRCm39)	W22R	probably damaging	Het
Ank2	C	T	3: 126,736,396 (GRCm39)		probably benign	Het
Ap1g1	C	T	8: 110,589,964 (GRCm39)		probably benign	Het
Arhgef19	T	A	4: 140,973,618 (GRCm39)	V35E	possibly damaging	Het
Baz2b	T	C	2: 59,778,583 (GRCm39)	D759G	probably benign	Het
BC051665	C	A	13: 60,930,004 (GRCm39)	G320W	probably damaging	Het
C8a	T	C	4: 104,679,326 (GRCm39)	D444G	probably damaging	Het
Cacna1e	A	T	1: 154,277,896 (GRCm39)	S2019T	probably benign	Het
Carm1	T	C	9: 21,497,749 (GRCm39)	I373T	probably damaging	Het
Ccdc39	T	C	3: 33,869,609 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,553,148 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,414,864 (GRCm39)	F28L	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Cpb2	T	C	14: 75,515,627 (GRCm39)	Y352H	probably damaging	Het
Cpeb3	A	T	19: 37,152,366 (GRCm39)	D3E	probably damaging	Het
Ctsl	T	C	13: 64,514,840 (GRCm39)	T155A	probably damaging	Het
Cygb	C	T	11: 116,540,645 (GRCm39)	A114T	probably damaging	Het
Cyp11a1	T	C	9: 57,924,738 (GRCm39)	V17A	probably benign	Het
Dhcr7	T	G	7: 143,400,959 (GRCm39)	I374S	probably damaging	Het
Dhx36	T	C	3: 62,380,387 (GRCm39)	R807G	probably benign	Het
Diaph1	A	T	18: 37,986,754 (GRCm39)	V1077E	probably damaging	Het
Ehmt2	A	G	17: 35,127,280 (GRCm39)	E131G	possibly damaging	Het
Evpl	A	G	11: 116,112,164 (GRCm39)	I1842T	probably damaging	Het
Fastk	C	A	5: 24,646,649 (GRCm39)	C294F	probably damaging	Het
Fndc5	T	C	4: 129,030,929 (GRCm39)	C20R	probably benign	Het
Gm7298	C	A	6: 121,757,553 (GRCm39)	Q1053K	possibly damaging	Het
Gm8362	A	G	14: 18,151,405 (GRCm39)		probably null	Het
Gmps	T	A	3: 63,906,098 (GRCm39)	I465N	probably damaging	Het
Heatr4	T	G	12: 84,001,431 (GRCm39)	M904L	probably benign	Het
Hhip	T	A	8: 80,771,785 (GRCm39)	D175V	probably damaging	Het
Hmcn2	G	A	2: 31,278,220 (GRCm39)	V1641M	probably damaging	Het
Hoxa5	T	G	6: 52,179,776 (GRCm39)	T200P	probably damaging	Het
Ift122	C	A	6: 115,901,368 (GRCm39)	A1050D	probably benign	Het
Igf2bp2	C	A	16: 21,897,473 (GRCm39)	E247*	probably null	Het
Irak1bp1	T	A	9: 82,728,846 (GRCm39)	L259H	probably damaging	Het
Irgm1	G	A	11: 48,759,575 (GRCm39)		probably benign	Het
Itih1	A	T	14: 30,657,866 (GRCm39)		probably benign	Het
Itpk1	A	T	12: 102,536,582 (GRCm39)	C355S	probably benign	Het
Kcng4	T	C	8: 120,352,452 (GRCm39)	E486G	possibly damaging	Het
Kif20b	T	C	19: 34,918,629 (GRCm39)	V671A	possibly damaging	Het
Kif28	T	G	1: 179,544,320 (GRCm39)	I345L	possibly damaging	Het
Klri2	C	G	6: 129,710,742 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,925,041 (GRCm39)	V1118A	probably benign	Het
Lpin2	T	A	17: 71,511,871 (GRCm39)	I34N	probably benign	Het
Lrch3	T	A	16: 32,802,199 (GRCm39)	V264D	possibly damaging	Het
Lrrk2	C	T	15: 91,586,473 (GRCm39)	Q430*	probably null	Het
Map10	T	G	8: 126,397,839 (GRCm39)	S411A	probably benign	Het
Map1a	A	T	2: 121,135,450 (GRCm39)	I2089F	probably benign	Het
Med12l	T	A	3: 58,984,443 (GRCm39)		probably benign	Het
Mypn	T	A	10: 63,005,156 (GRCm39)	Q317L	probably damaging	Het
Ncan	T	A	8: 70,555,171 (GRCm39)	I999F	probably damaging	Het
Nmrk2	C	A	10: 81,035,539 (GRCm39)	R134L	probably damaging	Het
Or4k42	C	T	2: 111,320,042 (GRCm39)	V154I	probably benign	Het
Or51f1d	T	A	7: 102,701,315 (GRCm39)	V270E	probably damaging	Het
Or5k17	T	C	16: 58,746,433 (GRCm39)	N167S	probably benign	Het
Or6z7	A	G	7: 6,483,246 (GRCm39)	V303A	probably benign	Het
Or8b1c	T	A	9: 38,384,685 (GRCm39)	I214N	probably damaging	Het
Osbpl1a	A	G	18: 12,899,858 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,073 (GRCm39)	D310G	possibly damaging	Het
Pkn2	C	T	3: 142,517,674 (GRCm39)		probably null	Het
Plch1	T	A	3: 63,691,547 (GRCm39)	M31L	probably damaging	Het
Polg2	A	G	11: 106,659,170 (GRCm39)	F448L	probably damaging	Het
Ppp4r3b	A	G	11: 29,150,758 (GRCm39)	T475A	possibly damaging	Het
Prdm13	C	T	4: 21,678,817 (GRCm39)	E558K	probably damaging	Het
Prdm9	T	A	17: 15,764,270 (GRCm39)	I837F	possibly damaging	Het
R3hdm1	T	A	1: 128,102,694 (GRCm39)	M125K	possibly damaging	Het
Rbm39	A	T	2: 155,990,276 (GRCm39)	V468E	probably damaging	Het
Rnasel	T	A	1: 153,630,777 (GRCm39)	V431E	probably damaging	Het
Rps2	T	A	17: 24,940,227 (GRCm39)	D220E	probably benign	Het
Rsf1	T	C	7: 97,331,059 (GRCm39)		probably benign	Het
Rsph10b	G	T	5: 143,913,952 (GRCm39)	A710S	probably benign	Het
Sez6	A	T	11: 77,844,353 (GRCm39)	T59S	probably damaging	Het
Sf3b1	A	T	1: 55,039,444 (GRCm39)	V727E	probably damaging	Het
Slit2	T	G	5: 48,407,140 (GRCm39)	L857R	probably damaging	Het
Spata31g1	T	A	4: 42,972,097 (GRCm39)	S477T	probably benign	Het
Sspo	T	G	6: 48,425,504 (GRCm39)	C42G	probably damaging	Het
Strc	C	T	2: 121,201,470 (GRCm39)	D1245N	probably benign	Het
Supv3l1	T	A	10: 62,268,118 (GRCm39)	T576S	probably benign	Het
Tecrl	C	T	5: 83,461,154 (GRCm39)	R101Q	probably benign	Het
Tmeff2	A	G	1: 51,220,952 (GRCm39)	Y309C	probably damaging	Het
Tmem43	T	A	6: 91,462,362 (GRCm39)	W316R	probably damaging	Het
Tmigd3	T	C	3: 105,821,554 (GRCm39)	V141A	probably benign	Het
Trav9-1	T	C	14: 53,725,584 (GRCm39)	F8L	probably benign	Het
Trbv5	T	G	6: 41,039,641 (GRCm39)	F82C	probably damaging	Het
Ubtf	T	C	11: 102,205,802 (GRCm39)	N41S	possibly damaging	Het
Uggt1	T	C	1: 36,197,229 (GRCm39)	T1225A	probably benign	Het
Vmn1r72	T	C	7: 11,403,807 (GRCm39)	R214G	possibly damaging	Het
Vmn2r12	T	G	5: 109,234,522 (GRCm39)	K563N	possibly damaging	Het
Vmn2r83	T	C	10: 79,304,873 (GRCm39)	S28P	probably benign	Het
Vwa8	T	G	14: 79,438,552 (GRCm39)	L1875R	probably damaging	Het
Xrcc6	T	A	15: 81,913,866 (GRCm39)	V64E	probably damaging	Het
Zfp292	T	C	4: 34,811,835 (GRCm39)	Y403C	probably damaging	Het
Zfp955a	A	T	17: 33,460,955 (GRCm39)	H392Q	probably damaging	Het
Zfyve19	T	C	2: 119,041,290 (GRCm39)	S69P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCAACCAGTAAATTTAGCTAAGGTC -3'
(R):5'- TGGCTTTCAAACTGGGACCTC -3'

Sequencing Primer
(F):5'- AGCTAAGGTCAAGGTTCTGTTTC -3'
(R):5'- CTCTACCTGTTTACGATGGGAAG -3'

Posted On

2021-08-31