Incidental Mutation 'R4920:Ces2b'
ID |
378518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces2b
|
Ensembl Gene |
ENSMUSG00000050097 |
Gene Name |
carboxyesterase 2B |
Synonyms |
|
MMRRC Submission |
042522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R4920 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105563538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 422
(Y422H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
AlphaFold |
Q6PDB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059449
AA Change: Y422H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063005 Gene: ENSMUSG00000050097 AA Change: Y422H
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
10 |
535 |
8.5e-175 |
PFAM |
Pfam:Abhydrolase_3
|
140 |
305 |
1.8e-11 |
PFAM |
Pfam:Peptidase_S9
|
161 |
296 |
9e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163042
|
SMART Domains |
Protein: ENSMUSP00000124796 Gene: ENSMUSG00000050097
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,709,696 (GRCm39) |
D51G |
unknown |
Het |
Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
Dync1i2 |
G |
A |
2: 71,077,668 (GRCm39) |
R243Q |
probably damaging |
Het |
Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
Gsdmd |
T |
C |
15: 75,736,206 (GRCm39) |
S112P |
probably damaging |
Het |
Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Noa1 |
T |
C |
5: 77,454,334 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
Zfp189 |
G |
A |
4: 49,529,302 (GRCm39) |
C135Y |
probably damaging |
Het |
|
Other mutations in Ces2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01388:Ces2b
|
APN |
8 |
105,561,236 (GRCm39) |
splice site |
probably benign |
|
IGL01905:Ces2b
|
APN |
8 |
105,560,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02528:Ces2b
|
APN |
8 |
105,561,601 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02659:Ces2b
|
APN |
8 |
105,559,202 (GRCm39) |
splice site |
probably benign |
|
IGL02885:Ces2b
|
APN |
8 |
105,561,563 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Ces2b
|
UTSW |
8 |
105,563,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Ces2b
|
UTSW |
8 |
105,563,144 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0403:Ces2b
|
UTSW |
8 |
105,560,577 (GRCm39) |
missense |
probably damaging |
0.98 |
R0600:Ces2b
|
UTSW |
8 |
105,562,542 (GRCm39) |
missense |
probably benign |
0.06 |
R0637:Ces2b
|
UTSW |
8 |
105,561,237 (GRCm39) |
splice site |
probably benign |
|
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
R3036:Ces2b
|
UTSW |
8 |
105,561,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3086:Ces2b
|
UTSW |
8 |
105,559,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4761:Ces2b
|
UTSW |
8 |
105,563,193 (GRCm39) |
critical splice donor site |
probably null |
|
R4937:Ces2b
|
UTSW |
8 |
105,559,413 (GRCm39) |
missense |
probably benign |
0.29 |
R5211:Ces2b
|
UTSW |
8 |
105,561,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5550:Ces2b
|
UTSW |
8 |
105,565,069 (GRCm39) |
missense |
probably benign |
0.00 |
R5790:Ces2b
|
UTSW |
8 |
105,560,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R6403:Ces2b
|
UTSW |
8 |
105,562,901 (GRCm39) |
nonsense |
probably null |
|
R6692:Ces2b
|
UTSW |
8 |
105,563,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:Ces2b
|
UTSW |
8 |
105,563,501 (GRCm39) |
missense |
probably benign |
0.32 |
R6899:Ces2b
|
UTSW |
8 |
105,563,398 (GRCm39) |
splice site |
probably null |
|
R7148:Ces2b
|
UTSW |
8 |
105,564,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7270:Ces2b
|
UTSW |
8 |
105,564,472 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7571:Ces2b
|
UTSW |
8 |
105,561,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R7626:Ces2b
|
UTSW |
8 |
105,564,017 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7841:Ces2b
|
UTSW |
8 |
105,561,692 (GRCm39) |
missense |
probably benign |
0.19 |
R7892:Ces2b
|
UTSW |
8 |
105,559,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Ces2b
|
UTSW |
8 |
105,561,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Ces2b
|
UTSW |
8 |
105,559,258 (GRCm39) |
missense |
unknown |
|
R8296:Ces2b
|
UTSW |
8 |
105,563,112 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8721:Ces2b
|
UTSW |
8 |
105,560,527 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9100:Ces2b
|
UTSW |
8 |
105,558,221 (GRCm39) |
unclassified |
probably benign |
|
R9361:Ces2b
|
UTSW |
8 |
105,564,039 (GRCm39) |
critical splice donor site |
probably null |
|
R9461:Ces2b
|
UTSW |
8 |
105,564,011 (GRCm39) |
missense |
probably benign |
0.39 |
R9477:Ces2b
|
UTSW |
8 |
105,560,556 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Ces2b
|
UTSW |
8 |
105,560,560 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ces2b
|
UTSW |
8 |
105,559,227 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
|
Posted On |
2016-04-15 |