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: 0.065)
|
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 |