Incidental Mutation 'IGL01597:Ces1e'
| ID |
91704 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces1e
|
| Ensembl Gene |
ENSMUSG00000061959 |
| Gene Name |
carboxylesterase 1E |
| Synonyms |
Es22, egasyn, Eg, Es-22 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93927846-93956233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93937001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 357
(I357F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034173]
[ENSMUST00000176282]
|
| AlphaFold |
Q64176 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034173
AA Change: I358F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: I358F
| 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 benign
Transcript: ENSMUST00000176282
AA Change: I357F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: I357F
| 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 |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
| Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
| Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
| Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
| Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
| Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
| Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
| Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably 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 |
|
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 |
|
|
R6199:Ces1e
|
UTSW |
8 |
93,944,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation