Incidental Mutation 'IGL01388:Ces2b'
ID |
79129 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces2b
|
Ensembl Gene |
ENSMUSG00000050097 |
Gene Name |
carboxyesterase 2B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL01388
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 105561236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
AlphaFold |
Q6PDB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059449
|
SMART Domains |
Protein: ENSMUSP00000063005 Gene: ENSMUSG00000050097
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap28 |
T |
G |
17: 68,160,034 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,645,264 (GRCm39) |
M924K |
probably benign |
Het |
Commd4 |
G |
A |
9: 57,063,273 (GRCm39) |
|
probably benign |
Het |
Ctnna3 |
A |
G |
10: 63,339,886 (GRCm39) |
E24G |
possibly damaging |
Het |
Cyp2a22 |
C |
T |
7: 26,637,217 (GRCm39) |
R189H |
probably benign |
Het |
Gapdhrt |
T |
C |
14: 11,281,836 (GRCm38) |
D33G |
probably damaging |
Het |
Gm20426 |
T |
C |
6: 90,155,694 (GRCm39) |
|
probably benign |
Het |
Gm6802 |
T |
G |
12: 19,540,546 (GRCm39) |
|
noncoding transcript |
Het |
Igkv8-21 |
A |
G |
6: 70,292,153 (GRCm39) |
S30P |
probably benign |
Het |
Lig4 |
A |
G |
8: 10,023,586 (GRCm39) |
Y65H |
probably damaging |
Het |
Mpzl1 |
T |
C |
1: 165,433,336 (GRCm39) |
D105G |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,736,703 (GRCm39) |
I451V |
possibly damaging |
Het |
Nos2 |
G |
T |
11: 78,848,278 (GRCm39) |
V1062L |
probably damaging |
Het |
Oas2 |
A |
G |
5: 120,886,657 (GRCm39) |
S170P |
probably damaging |
Het |
Or1j19 |
G |
T |
2: 36,677,367 (GRCm39) |
V277L |
probably benign |
Het |
Or5w11 |
T |
A |
2: 87,458,973 (GRCm39) |
H55Q |
probably benign |
Het |
Or8b3b |
A |
T |
9: 38,584,379 (GRCm39) |
Y120* |
probably null |
Het |
Or8g37 |
A |
G |
9: 39,731,298 (GRCm39) |
D121G |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,877,546 (GRCm39) |
L367P |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,405,464 (GRCm39) |
T439A |
probably damaging |
Het |
Plekhm2 |
T |
C |
4: 141,369,312 (GRCm39) |
Y124C |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,543,108 (GRCm39) |
W155R |
probably damaging |
Het |
Prl7c1 |
C |
A |
13: 27,960,198 (GRCm39) |
A115S |
probably damaging |
Het |
Psg25 |
T |
C |
7: 18,263,590 (GRCm39) |
I78V |
possibly damaging |
Het |
Ptpn9 |
T |
A |
9: 56,944,002 (GRCm39) |
V292E |
probably benign |
Het |
Ptprs |
G |
A |
17: 56,728,261 (GRCm39) |
R908C |
probably damaging |
Het |
Rps6ka1 |
C |
T |
4: 133,599,275 (GRCm39) |
V51I |
probably damaging |
Het |
Scube1 |
T |
C |
15: 83,504,332 (GRCm39) |
I492V |
probably benign |
Het |
Trappc2 |
G |
A |
X: 165,232,775 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,187,554 (GRCm39) |
V739A |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 103,136,018 (GRCm39) |
|
probably benign |
Het |
Vmn2r27 |
G |
A |
6: 124,200,791 (GRCm39) |
P389S |
possibly damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,798 (GRCm39) |
F212I |
possibly damaging |
Het |
|
Other mutations in Ces2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R4920:Ces2b
|
UTSW |
8 |
105,563,538 (GRCm39) |
missense |
probably benign |
|
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 |
|
|
Posted On |
2013-11-05 |