Incidental Mutation 'R8280:Ces1c'
| ID |
638152 |
| 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 |
067703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93825809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 550
(H550L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
|
| AlphaFold |
P23953 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034189
AA Change: H550L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: H550L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
534 |
4e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
235 |
6.2e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,667 (GRCm39) |
V248A |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,440,274 (GRCm39) |
I373T |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,352,650 (GRCm39) |
M308K |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,060,851 (GRCm39) |
M3111T |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,344,839 (GRCm39) |
D1095G |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 28,704,328 (GRCm39) |
V818I |
probably benign |
Het |
| Cluap1 |
A |
G |
16: 3,729,017 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
G |
T |
6: 21,986,820 (GRCm39) |
R4L |
unknown |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,532 (GRCm39) |
I229T |
probably benign |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,713 (GRCm39) |
C169R |
probably damaging |
Het |
| Dip2a |
C |
T |
10: 76,100,610 (GRCm39) |
V1522M |
possibly damaging |
Het |
| Diras2 |
A |
G |
13: 52,661,863 (GRCm39) |
M148T |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,408,538 (GRCm39) |
A3508S |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,123,281 (GRCm39) |
E13G |
probably damaging |
Het |
| Farsa |
T |
G |
8: 85,587,808 (GRCm39) |
I113S |
probably damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,166,364 (GRCm39) |
S137* |
probably null |
Het |
| Fer1l4 |
T |
C |
2: 155,891,620 (GRCm39) |
D114G |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,868,015 (GRCm39) |
*185R |
probably null |
Het |
| Gm5901 |
G |
A |
7: 105,027,105 (GRCm39) |
|
probably null |
Het |
| Heatr4 |
C |
A |
12: 84,016,670 (GRCm39) |
E532D |
probably benign |
Het |
| Il10 |
C |
T |
1: 130,947,749 (GRCm39) |
P34L |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,522,828 (GRCm39) |
E205G |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,916,046 (GRCm39) |
L271P |
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,078,286 (GRCm39) |
|
probably null |
Het |
| Naaa |
T |
C |
5: 92,411,308 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ndufaf7 |
G |
A |
17: 79,251,275 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nmral1 |
A |
G |
16: 4,531,659 (GRCm39) |
S199P |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,744 (GRCm39) |
F100L |
probably benign |
Het |
| Or4c122 |
A |
T |
2: 89,079,234 (GRCm39) |
I268K |
probably damaging |
Het |
| Or4k2 |
A |
C |
14: 50,423,723 (GRCm39) |
L318* |
probably null |
Het |
| Or4x6 |
C |
A |
2: 89,949,742 (GRCm39) |
V67L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,729 (GRCm39) |
I205V |
noncoding transcript |
Het |
| Or8b52 |
T |
A |
9: 38,576,783 (GRCm39) |
Y119F |
probably damaging |
Het |
| Or8g21 |
C |
T |
9: 38,906,075 (GRCm39) |
V219I |
probably benign |
Het |
| Paxbp1 |
G |
T |
16: 90,831,123 (GRCm39) |
H418N |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,813,433 (GRCm39) |
Y931C |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,372 (GRCm39) |
S239P |
probably benign |
Het |
| Rragd |
A |
G |
4: 32,995,112 (GRCm39) |
R76G |
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,219 (GRCm39) |
W278* |
probably null |
Het |
| Slc22a8 |
T |
A |
19: 8,586,627 (GRCm39) |
Y379* |
probably null |
Het |
| Taar8c |
T |
A |
10: 23,976,835 (GRCm39) |
I326F |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,890,884 (GRCm39) |
S715T |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,055,359 (GRCm39) |
I1M |
unknown |
Het |
| Trio |
A |
G |
15: 27,902,996 (GRCm39) |
I214T |
unknown |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,071 (GRCm39) |
S54T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,038,864 (GRCm39) |
T1115A |
probably benign |
Het |
| Zscan4f |
A |
T |
7: 11,251,599 (GRCm39) |
I212F |
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 |
|
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 |
|
|
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'- GGATTCATTTTCAGCTCAAGACAC -3'
(R):5'- CCCAGGAGAGGTATCTATTTGATTCTG -3'
Sequencing Primer
(F):5'- TTCATTTTCAGCTCAAGACACAATCC -3'
(R):5'- CTGTTTCCAGGAACCCTAATGGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation