Incidental Mutation 'IGL01389:Ces2e'
ID |
79141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces2e
|
Ensembl Gene |
ENSMUSG00000031886 |
Gene Name |
carboxylesterase 2E |
Synonyms |
Ces5, 9030624L02Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01389
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105652892-105661304 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105656197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 169
(D169E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034355]
[ENSMUST00000109410]
|
AlphaFold |
Q8BK48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034355
AA Change: D169E
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034355 Gene: ENSMUSG00000031886 AA Change: D169E
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
11 |
538 |
1.2e-174 |
PFAM |
Pfam:Abhydrolase_3
|
143 |
252 |
4.6e-11 |
PFAM |
Pfam:Peptidase_S9
|
159 |
296 |
2.3e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109410
AA Change: D169E
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105037 Gene: ENSMUSG00000031886 AA Change: D169E
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
9 |
538 |
1.7e-171 |
PFAM |
Pfam:Abhydrolase_3
|
143 |
246 |
6.6e-11 |
PFAM |
Pfam:Peptidase_S9
|
158 |
276 |
2.1e-7 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
Dock11 |
T |
C |
X: 35,256,701 (GRCm39) |
V576A |
probably benign |
Het |
Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
Numbl |
T |
G |
7: 26,980,472 (GRCm39) |
F485V |
possibly damaging |
Het |
Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,461,131 (GRCm39) |
M311K |
probably damaging |
Het |
Slc22a21 |
A |
G |
11: 53,870,407 (GRCm39) |
S93P |
probably damaging |
Het |
Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
Tcaim |
A |
G |
9: 122,643,627 (GRCm39) |
E109G |
possibly damaging |
Het |
Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
Het |
|
Other mutations in Ces2e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02045:Ces2e
|
APN |
8 |
105,657,290 (GRCm39) |
splice site |
probably benign |
|
IGL02656:Ces2e
|
APN |
8 |
105,653,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02904:Ces2e
|
APN |
8 |
105,657,970 (GRCm39) |
missense |
probably benign |
|
IGL02972:Ces2e
|
APN |
8 |
105,653,693 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03244:Ces2e
|
APN |
8 |
105,655,451 (GRCm39) |
missense |
probably benign |
0.38 |
R0585:Ces2e
|
UTSW |
8 |
105,656,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R0762:Ces2e
|
UTSW |
8 |
105,656,496 (GRCm39) |
missense |
probably damaging |
0.98 |
R1004:Ces2e
|
UTSW |
8 |
105,656,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Ces2e
|
UTSW |
8 |
105,653,646 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1731:Ces2e
|
UTSW |
8 |
105,656,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Ces2e
|
UTSW |
8 |
105,659,171 (GRCm39) |
critical splice donor site |
probably null |
|
R3087:Ces2e
|
UTSW |
8 |
105,657,347 (GRCm39) |
missense |
probably benign |
0.18 |
R3693:Ces2e
|
UTSW |
8 |
105,655,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Ces2e
|
UTSW |
8 |
105,655,341 (GRCm39) |
splice site |
probably null |
|
R4873:Ces2e
|
UTSW |
8 |
105,653,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Ces2e
|
UTSW |
8 |
105,653,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Ces2e
|
UTSW |
8 |
105,660,330 (GRCm39) |
missense |
probably benign |
0.09 |
R5365:Ces2e
|
UTSW |
8 |
105,653,846 (GRCm39) |
critical splice donor site |
probably null |
|
R5529:Ces2e
|
UTSW |
8 |
105,656,543 (GRCm39) |
missense |
probably benign |
0.00 |
R5601:Ces2e
|
UTSW |
8 |
105,656,126 (GRCm39) |
missense |
probably benign |
0.42 |
R5968:Ces2e
|
UTSW |
8 |
105,659,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6128:Ces2e
|
UTSW |
8 |
105,655,428 (GRCm39) |
missense |
probably benign |
0.03 |
R7337:Ces2e
|
UTSW |
8 |
105,657,688 (GRCm39) |
splice site |
probably null |
|
R7363:Ces2e
|
UTSW |
8 |
105,659,632 (GRCm39) |
splice site |
probably null |
|
R7489:Ces2e
|
UTSW |
8 |
105,656,412 (GRCm39) |
missense |
probably benign |
0.26 |
R7548:Ces2e
|
UTSW |
8 |
105,658,538 (GRCm39) |
missense |
probably benign |
|
R8068:Ces2e
|
UTSW |
8 |
105,659,629 (GRCm39) |
critical splice donor site |
probably null |
|
R9426:Ces2e
|
UTSW |
8 |
105,656,220 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ces2e
|
UTSW |
8 |
105,659,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Ces2e
|
UTSW |
8 |
105,657,979 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-05 |