Incidental Mutation 'R4131:Ces1c'
| ID |
314677 |
| 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 |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93827312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 484
(M484T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
|
| AlphaFold |
P23953 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034189
AA Change: M484T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: M484T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
534 |
4e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
235 |
6.2e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
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 |
|
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 |
|
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'- AGGCTGACAACCTCCATAGAG -3'
(R):5'- GCTCTTCTCATACTGGAGCATTTG -3'
Sequencing Primer
(F):5'- GAGCTTACATCTTTAGGAACGGCC -3'
(R):5'- CTCATACTGGAGCATTTGACTGTATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation