Incidental Mutation 'R5365:Ces2e'
| ID |
423087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2e
|
| Ensembl Gene |
ENSMUSG00000031886 |
| Gene Name |
carboxylesterase 2E |
| Synonyms |
Ces5, 9030624L02Rik |
| MMRRC Submission |
042943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105652892-105661304 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 105653846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034355]
[ENSMUST00000109410]
|
| AlphaFold |
Q8BK48 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034355
|
| SMART Domains |
Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
| 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 null
Transcript: ENSMUST00000109410
|
| SMART Domains |
Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
| Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
| Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
| Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
| Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
| Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
| Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
| Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
| Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
| Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCATGTTGGCATCTCCAC -3'
(R):5'- CTGATCTTTGACCCAGGAGAC -3'
Sequencing Primer
(F):5'- ATGTTGGCATCTCCACCCACAG -3'
(R):5'- ACGCACTGCACATCATAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation