Incidental Mutation 'IGL03244:Ces2e'
| ID |
414337 |
| 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: 0.050)
|
| Stock # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105652892-105661304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105655451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 125
(Y125H)
|
| 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: Y125H
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: Y125H
| 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: Y125H
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: Y125H
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,098,341 (GRCm39) |
V460A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
Het |
|
| Other mutations in Ces2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Ces2e
|
APN |
8 |
105,656,197 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation