Incidental Mutation 'IGL00787:Ces1c'
| ID |
12532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces1c
|
| Ensembl Gene |
ENSMUSG00000057400 |
| Gene Name |
carboxylesterase 1C |
| Synonyms |
Ces-N, Es-N, Es-1, Ee-1, Es-4, Es1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL00787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93846994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 87
(S87T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
[ENSMUST00000211843]
|
| AlphaFold |
P23953 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034189
AA Change: S233T
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: S233T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
534 |
4e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
235 |
6.2e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211843
AA Change: S87T
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212091
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
T |
A |
3: 98,069,486 (GRCm39) |
S440T |
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,841,401 (GRCm39) |
N827K |
probably damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,501,907 (GRCm39) |
|
probably null |
Het |
| Cwh43 |
T |
A |
5: 73,578,832 (GRCm39) |
F280I |
possibly damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,027 (GRCm39) |
Y320* |
probably null |
Het |
| Dgkh |
A |
C |
14: 78,855,954 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,022,020 (GRCm39) |
V1161E |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,803,349 (GRCm39) |
R399G |
probably benign |
Het |
| Gpr75 |
T |
A |
11: 30,842,290 (GRCm39) |
F398L |
probably benign |
Het |
| Kif24 |
G |
A |
4: 41,397,583 (GRCm39) |
T525I |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,226,973 (GRCm39) |
|
probably benign |
Het |
| Klc2 |
T |
G |
19: 5,161,690 (GRCm39) |
E300A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,122,198 (GRCm39) |
V171I |
probably benign |
Het |
| Nop2 |
C |
T |
6: 125,110,509 (GRCm39) |
S45L |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,512,854 (GRCm39) |
T579A |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
|
| Other mutations in Ces1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Ces1c
|
APN |
8 |
93,833,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00558:Ces1c
|
APN |
8 |
93,825,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00851:Ces1c
|
APN |
8 |
93,849,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01598:Ces1c
|
APN |
8 |
93,845,041 (GRCm39) |
missense |
probably benign |
|
|
IGL02616:Ces1c
|
APN |
8 |
93,833,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03087:Ces1c
|
APN |
8 |
93,845,042 (GRCm39) |
missense |
probably benign |
|
|
IGL03203:Ces1c
|
APN |
8 |
93,851,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Ces1c
|
UTSW |
8 |
93,834,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0119:Ces1c
|
UTSW |
8 |
93,833,345 (GRCm39) |
unclassified |
probably benign |
|
|
R0255:Ces1c
|
UTSW |
8 |
93,854,152 (GRCm39) |
missense |
probably benign |
|
|
R0759:Ces1c
|
UTSW |
8 |
93,857,492 (GRCm39) |
nonsense |
probably null |
|
|
R1499:Ces1c
|
UTSW |
8 |
93,854,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1926:Ces1c
|
UTSW |
8 |
93,854,232 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2087:Ces1c
|
UTSW |
8 |
93,834,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2142:Ces1c
|
UTSW |
8 |
93,857,468 (GRCm39) |
missense |
probably benign |
|
|
R2442:Ces1c
|
UTSW |
8 |
93,849,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Ces1c
|
UTSW |
8 |
93,830,821 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3079:Ces1c
|
UTSW |
8 |
93,846,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Ces1c
|
UTSW |
8 |
93,846,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3609:Ces1c
|
UTSW |
8 |
93,846,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4131:Ces1c
|
UTSW |
8 |
93,827,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Ces1c
|
UTSW |
8 |
93,845,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4988:Ces1c
|
UTSW |
8 |
93,827,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Ces1c
|
UTSW |
8 |
93,854,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Ces1c
|
UTSW |
8 |
93,857,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5586:Ces1c
|
UTSW |
8 |
93,854,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7013:Ces1c
|
UTSW |
8 |
93,857,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Ces1c
|
UTSW |
8 |
93,857,470 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7611:Ces1c
|
UTSW |
8 |
93,851,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Ces1c
|
UTSW |
8 |
93,833,231 (GRCm39) |
missense |
probably benign |
|
|
R8280:Ces1c
|
UTSW |
8 |
93,825,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8705:Ces1c
|
UTSW |
8 |
93,857,518 (GRCm39) |
missense |
probably benign |
|
|
R8752:Ces1c
|
UTSW |
8 |
93,846,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Ces1c
|
UTSW |
8 |
93,833,254 (GRCm39) |
missense |
probably benign |
|
|
R9470:Ces1c
|
UTSW |
8 |
93,830,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation