Incidental Mutation 'IGL02529:Ces2a'
| ID |
297250 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces2a
|
| Ensembl Gene |
ENSMUSG00000055730 |
| Gene Name |
carboxylesterase 2A |
| Synonyms |
9130231C15Rik, Ces6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105460635-105468266 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 105463851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034346]
[ENSMUST00000161824]
[ENSMUST00000164182]
|
| AlphaFold |
Q8QZR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034346
|
| SMART Domains |
Protein: ENSMUSP00000034346
Gene: ENSMUSG00000055730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
9 |
537 |
1.2e-171 |
PFAM |
|
Pfam:Abhydrolase_3
|
142 |
267 |
2.9e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
156 |
347 |
7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161824
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164182
|
| SMART Domains |
Protein: ENSMUSP00000127346
Gene: ENSMUSG00000055730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
8 |
276 |
5e-110 |
PFAM |
|
Pfam:Abhydrolase_3
|
142 |
267 |
2.6e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
156 |
275 |
3e-7 |
PFAM |
|
Pfam:COesterase
|
259 |
504 |
8.3e-47 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
| Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
| Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
| Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
| Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
| Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
| Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
| Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
| Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
| Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
| Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
| Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
Het |
|
| Other mutations in Ces2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Ces2a
|
APN |
8 |
105,468,047 (GRCm39) |
makesense |
probably null |
|
|
IGL02135:Ces2a
|
APN |
8 |
105,466,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02625:Ces2a
|
APN |
8 |
105,466,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02869:Ces2a
|
APN |
8 |
105,465,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Ces2a
|
APN |
8 |
105,464,075 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03349:Ces2a
|
APN |
8 |
105,460,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0010:Ces2a
|
UTSW |
8 |
105,468,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0318:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Ces2a
|
UTSW |
8 |
105,464,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0561:Ces2a
|
UTSW |
8 |
105,464,165 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0619:Ces2a
|
UTSW |
8 |
105,462,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1665:Ces2a
|
UTSW |
8 |
105,464,187 (GRCm39) |
splice site |
probably benign |
|
|
R1737:Ces2a
|
UTSW |
8 |
105,467,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2266:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2267:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2269:Ces2a
|
UTSW |
8 |
105,466,822 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2288:Ces2a
|
UTSW |
8 |
105,464,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Ces2a
|
UTSW |
8 |
105,462,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3176:Ces2a
|
UTSW |
8 |
105,466,010 (GRCm39) |
splice site |
probably benign |
|
|
R3906:Ces2a
|
UTSW |
8 |
105,465,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4344:Ces2a
|
UTSW |
8 |
105,463,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Ces2a
|
UTSW |
8 |
105,463,938 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4780:Ces2a
|
UTSW |
8 |
105,463,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Ces2a
|
UTSW |
8 |
105,464,041 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5763:Ces2a
|
UTSW |
8 |
105,462,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5828:Ces2a
|
UTSW |
8 |
105,465,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6359:Ces2a
|
UTSW |
8 |
105,462,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6440:Ces2a
|
UTSW |
8 |
105,467,954 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7066:Ces2a
|
UTSW |
8 |
105,466,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7267:Ces2a
|
UTSW |
8 |
105,465,672 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7395:Ces2a
|
UTSW |
8 |
105,466,273 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7455:Ces2a
|
UTSW |
8 |
105,464,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7457:Ces2a
|
UTSW |
8 |
105,464,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7567:Ces2a
|
UTSW |
8 |
105,467,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7683:Ces2a
|
UTSW |
8 |
105,463,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8328:Ces2a
|
UTSW |
8 |
105,463,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Ces2a
|
UTSW |
8 |
105,465,665 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9183:Ces2a
|
UTSW |
8 |
105,460,774 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9794:Ces2a
|
UTSW |
8 |
105,467,896 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0022:Ces2a
|
UTSW |
8 |
105,462,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ces2a
|
UTSW |
8 |
105,461,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ces2a
|
UTSW |
8 |
105,460,638 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation