Incidental Mutation 'IGL00420:Ces1c'
| ID |
4987 |
| 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 # |
IGL00420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93833301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 388
(E388G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
[ENSMUST00000211843]
|
| AlphaFold |
P23953 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034189
AA Change: E388G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: E388G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
534 |
4e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
235 |
6.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211843
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
| Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,697,231 (GRCm39) |
|
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
| Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
| Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,098 (GRCm39) |
C420S |
probably benign |
Het |
| Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
| Slc2a8 |
G |
T |
2: 32,863,636 (GRCm39) |
Q469K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,553,550 (GRCm39) |
V519A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
| Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,683,714 (GRCm39) |
M110L |
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
| Other mutations in Ces1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Ces1c
|
APN |
8 |
93,825,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00787:Ces1c
|
APN |
8 |
93,846,994 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
2012-04-20 |
Incidental Mutation