Incidental Mutation 'R7013:Ces1c'
| ID |
545128 |
| 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 |
045114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93857392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 63
(L63Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
|
| AlphaFold |
P23953 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034189
AA Change: L63Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: L63Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,345 (GRCm39) |
I213V |
probably null |
Het |
| Abcc4 |
A |
T |
14: 118,763,755 (GRCm39) |
C952S |
probably benign |
Het |
| Adhfe1 |
T |
C |
1: 9,620,816 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
A |
12: 8,060,080 (GRCm39) |
L2854* |
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,109 (GRCm39) |
N693K |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,933,649 (GRCm39) |
V508A |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 70,000,214 (GRCm39) |
E288G |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,806,270 (GRCm39) |
S455P |
possibly damaging |
Het |
| Crmp1 |
A |
T |
5: 37,426,036 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,780 (GRCm39) |
D528G |
unknown |
Het |
| Dact2 |
T |
C |
17: 14,423,796 (GRCm39) |
T66A |
probably benign |
Het |
| Dkk2 |
T |
C |
3: 131,880,760 (GRCm39) |
L135P |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,278,129 (GRCm39) |
N381S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,591,578 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,114,340 (GRCm39) |
P1240S |
probably damaging |
Het |
| Esyt1 |
A |
T |
10: 128,361,520 (GRCm39) |
V58E |
probably damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,338 (GRCm39) |
A326S |
probably damaging |
Het |
| Fam20b |
A |
G |
1: 156,518,135 (GRCm39) |
S220P |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,745,817 (GRCm39) |
T402I |
probably benign |
Het |
| Galnt10 |
A |
T |
11: 57,656,410 (GRCm39) |
D198V |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,483,108 (GRCm39) |
E604D |
probably benign |
Het |
| Il20rb |
A |
G |
9: 100,343,481 (GRCm39) |
Y258H |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,285,776 (GRCm39) |
S409R |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,131,425 (GRCm39) |
V97F |
possibly damaging |
Het |
| Lbhd1 |
T |
C |
19: 8,861,523 (GRCm39) |
S52P |
probably damaging |
Het |
| Lman2l |
A |
G |
1: 36,482,599 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,788,625 (GRCm39) |
M493I |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,188,774 (GRCm39) |
D132G |
probably damaging |
Het |
| Nlrp1a |
G |
A |
11: 71,014,378 (GRCm39) |
R291W |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,247 (GRCm39) |
Y259* |
probably null |
Het |
| Or4a79 |
T |
A |
2: 89,551,730 (GRCm39) |
I242F |
probably benign |
Het |
| Or4b13 |
C |
T |
2: 90,082,441 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,308 (GRCm39) |
A37V |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,656 (GRCm39) |
I37F |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,738,787 (GRCm39) |
V158A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,674 (GRCm39) |
N376D |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,072,659 (GRCm39) |
I207N |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,402 (GRCm39) |
V698A |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,877,826 (GRCm39) |
M222K |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,839,365 (GRCm39) |
K121E |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,655,296 (GRCm39) |
V335D |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,215,222 (GRCm39) |
C251* |
probably null |
Het |
| Tmprss11d |
C |
A |
5: 86,474,432 (GRCm39) |
R37L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,576,265 (GRCm39) |
N904S |
possibly damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,714 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r66 |
T |
C |
7: 10,008,683 (GRCm39) |
R117G |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,362,113 (GRCm39) |
D1025G |
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 |
|
|
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 |
|
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'- TGCCTCATCTCCATACTGGA -3'
(R):5'- AACCATGAATCCAGGTTTGATCTACC -3'
Sequencing Primer
(F):5'- TTGGTCAATAGAGATGCCTACAGCC -3'
(R):5'- AGGTTTGATCTACCCCCTCTGATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation