Incidental Mutation 'R5231:Bche'
| ID |
398504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bche
|
| Ensembl Gene |
ENSMUSG00000027792 |
| Gene Name |
butyrylcholinesterase |
| Synonyms |
C730038G20Rik |
| MMRRC Submission |
042803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
73543141-73615748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73608194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 411
(P411S)
|
| 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: P411S
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000029367
Gene: ENSMUSG00000027792
AA Change: P411S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141329
Gene: ENSMUSG00000027792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
10 |
174 |
6.9e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153917
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
| Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
| Deup1 |
G |
T |
9: 15,486,495 (GRCm39) |
A395E |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
| Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
| Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
| Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
| Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
| Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,853,094 (GRCm39) |
F64S |
possibly damaging |
Het |
| Mmp10 |
T |
C |
9: 7,502,501 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
| Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
C |
A |
9: 92,148,784 (GRCm39) |
P208H |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,586 (GRCm39) |
Y172C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAGCCATGCATCACTCC -3'
(R):5'- GGATGGCGATTTTCTCACCG -3'
Sequencing Primer
(F):5'- CCATCCATTCCGGCCAAGG -3'
(R):5'- AGCTCAGATCTTAGTGGGAGTTAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation