Incidental Mutation 'R2442:Ces1c'
| ID |
249823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1c
|
| Ensembl Gene |
ENSMUSG00000057400 |
| Gene Name |
carboxylesterase 1C |
| Synonyms |
Ces-N, Es-N, Es-1, Ee-1, Es-4, Es1 |
| MMRRC Submission |
040400-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93849840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 38
(D38G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
[ENSMUST00000211843]
|
| AlphaFold |
P23953 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034189
AA Change: D193G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: D193G
| 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 damaging
Transcript: ENSMUST00000134161
AA Change: D38G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123146
Gene: ENSMUSG00000057400
AA Change: D38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_3
|
1 |
140 |
3.2e-7 |
PFAM |
|
Pfam:COesterase
|
1 |
177 |
4.9e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211843
AA Change: D38G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212091
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
| Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
| Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
| Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
| Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
| Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
| Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
| Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 78,969,807 (GRCm39) |
M268V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
| Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
| N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
| Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
| Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
| Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTGGATGCTTTCTAACAG -3'
(R):5'- AGGCAAGTAAATTCCCCTTAGC -3'
Sequencing Primer
(F):5'- GACTGGATGCTTTCTAACAGGTTCC -3'
(R):5'- AGCAGCCTGTCAGTGATATC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation