Incidental Mutation 'R0585:Ces2e'
| ID |
55714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2e
|
| Ensembl Gene |
ENSMUSG00000031886 |
| Gene Name |
carboxylesterase 2E |
| Synonyms |
Ces5, 9030624L02Rik |
| MMRRC Submission |
038775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0585 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105652892-105661304 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105656453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 228
(S228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034355]
[ENSMUST00000109410]
|
| AlphaFold |
Q8BK48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034355
AA Change: S228P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: S228P
| 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 damaging
Transcript: ENSMUST00000109410
AA Change: S228P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: S228P
| 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 |
|
| Meta Mutation Damage Score |
0.4800 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
| Eps8l3 |
G |
C |
3: 107,788,513 (GRCm39) |
D33H |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,961,402 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,721 (GRCm39) |
V267A |
probably benign |
Het |
| Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
| Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
| Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,583,346 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
| Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
G |
A |
9: 36,821,056 (GRCm39) |
|
probably benign |
Het |
| Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
| Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
| Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
| Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
| Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTCACTGTTGGCATGGCTTC -3'
(R):5'- TGAACACAGTACCAGCGAACTAGGG -3'
Sequencing Primer
(F):5'- TTTGGCAATGTGGAATGATCAGAAC -3'
(R):5'- TGAGTGCTAAGACAGTAGGTCG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation