Incidental Mutation 'R6199:Ces1e'
| ID |
503104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1e
|
| Ensembl Gene |
ENSMUSG00000061959 |
| Gene Name |
carboxylesterase 1E |
| Synonyms |
Es22, egasyn, Eg, Es-22 |
| MMRRC Submission |
044339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93927846-93956233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93944163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 218
(F218L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034173]
[ENSMUST00000176282]
|
| AlphaFold |
Q64176 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034173
AA Change: F219L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: F219L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
546 |
1.7e-174 |
PFAM |
|
Pfam:Abhydrolase_3
|
137 |
282 |
5.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175983
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176282
AA Change: F218L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: F218L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
8.9e-166 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
292 |
2.7e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
| Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
| Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
| Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
| Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
| Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
| Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Insc |
A |
T |
7: 114,390,401 (GRCm39) |
|
probably null |
Het |
| Izumo4 |
G |
A |
10: 80,538,707 (GRCm39) |
G53D |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
| Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
| Man1a |
C |
T |
10: 53,890,552 (GRCm39) |
V288I |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
| Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,012 (GRCm39) |
L227P |
probably damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
| Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
| Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
| Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
|
| Other mutations in Ces1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Ces1e
|
APN |
8 |
93,944,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01358:Ces1e
|
APN |
8 |
93,940,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01597:Ces1e
|
APN |
8 |
93,937,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01875:Ces1e
|
APN |
8 |
93,950,524 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02244:Ces1e
|
APN |
8 |
93,938,977 (GRCm39) |
splice site |
probably null |
|
|
IGL03260:Ces1e
|
APN |
8 |
93,950,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03302:Ces1e
|
APN |
8 |
93,950,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
chaingun
|
UTSW |
8 |
93,950,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chomper
|
UTSW |
8 |
93,928,467 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4651001:Ces1e
|
UTSW |
8 |
93,941,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0158:Ces1e
|
UTSW |
8 |
93,946,057 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0317:Ces1e
|
UTSW |
8 |
93,950,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0530:Ces1e
|
UTSW |
8 |
93,946,149 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Ces1e
|
UTSW |
8 |
93,950,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3013:Ces1e
|
UTSW |
8 |
93,929,915 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3815:Ces1e
|
UTSW |
8 |
93,928,467 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4810:Ces1e
|
UTSW |
8 |
93,935,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Ces1e
|
UTSW |
8 |
93,950,716 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5155:Ces1e
|
UTSW |
8 |
93,928,034 (GRCm39) |
makesense |
probably null |
|
|
R5262:Ces1e
|
UTSW |
8 |
93,950,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Ces1e
|
UTSW |
8 |
93,935,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5403:Ces1e
|
UTSW |
8 |
93,935,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5410:Ces1e
|
UTSW |
8 |
93,937,070 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5813:Ces1e
|
UTSW |
8 |
93,948,305 (GRCm39) |
nonsense |
probably null |
|
|
R5891:Ces1e
|
UTSW |
8 |
93,929,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5966:Ces1e
|
UTSW |
8 |
93,946,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6381:Ces1e
|
UTSW |
8 |
93,944,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Ces1e
|
UTSW |
8 |
93,950,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Ces1e
|
UTSW |
8 |
93,941,756 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7180:Ces1e
|
UTSW |
8 |
93,941,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Ces1e
|
UTSW |
8 |
93,937,045 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7421:Ces1e
|
UTSW |
8 |
93,941,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8296:Ces1e
|
UTSW |
8 |
93,929,947 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8901:Ces1e
|
UTSW |
8 |
93,937,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ces1e
|
UTSW |
8 |
93,946,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0014:Ces1e
|
UTSW |
8 |
93,929,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ces1e
|
UTSW |
8 |
93,937,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCGTTGTCTAATGCTGAGC -3'
(R):5'- AGACATGTATTAGGCCTGCAGAG -3'
Sequencing Primer
(F):5'- CCGTTGTCTAATGCTGAGCAATAAAC -3'
(R):5'- GGCCTGCAGAGCACAACTTATTTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation