Incidental Mutation 'IGL02244:Ces1e'
ID |
286122 |
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 # |
IGL02244
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93927846-93956233 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 93938977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034173]
[ENSMUST00000176282]
|
AlphaFold |
Q64176 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034173
|
SMART Domains |
Protein: ENSMUSP00000034173 Gene: ENSMUSG00000061959
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 null
Transcript: ENSMUST00000176282
|
SMART Domains |
Protein: ENSMUSP00000135636 Gene: ENSMUSG00000061959
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
G |
T |
16: 90,853,085 (GRCm39) |
T17K |
probably benign |
Het |
Agbl1 |
T |
C |
7: 76,416,120 (GRCm39) |
S714P |
probably damaging |
Het |
Araf |
A |
G |
X: 20,719,835 (GRCm39) |
|
probably benign |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armc8 |
A |
T |
9: 99,365,227 (GRCm39) |
D638E |
probably benign |
Het |
Bpifb5 |
C |
T |
2: 154,067,068 (GRCm39) |
T107I |
possibly damaging |
Het |
Col4a3 |
C |
A |
1: 82,647,492 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
A |
G |
X: 140,382,669 (GRCm39) |
|
probably benign |
Het |
Crocc |
T |
C |
4: 140,765,231 (GRCm39) |
H477R |
probably benign |
Het |
Dgkd |
C |
A |
1: 87,842,863 (GRCm39) |
N130K |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,379,174 (GRCm39) |
Q634* |
probably null |
Het |
Dzip3 |
C |
T |
16: 48,801,351 (GRCm39) |
V58I |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,793,807 (GRCm39) |
|
probably benign |
Het |
Glp2r |
C |
T |
11: 67,612,817 (GRCm39) |
R379H |
probably damaging |
Het |
Kctd12b |
T |
A |
X: 152,472,330 (GRCm39) |
M120L |
probably benign |
Het |
Krt33b |
A |
G |
11: 99,916,189 (GRCm39) |
V258A |
probably benign |
Het |
Lpin1 |
T |
A |
12: 16,591,770 (GRCm39) |
N819I |
probably damaging |
Het |
Lurap1l |
T |
C |
4: 80,871,866 (GRCm39) |
S120P |
probably damaging |
Het |
Lysmd4 |
T |
C |
7: 66,875,672 (GRCm39) |
S112P |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,274,971 (GRCm39) |
K708R |
probably benign |
Het |
Nr3c1 |
T |
A |
18: 39,554,610 (GRCm39) |
|
probably benign |
Het |
Nup62cl |
G |
T |
X: 138,922,780 (GRCm39) |
N239K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,434,210 (GRCm39) |
E1269V |
probably damaging |
Het |
Or52e7 |
C |
T |
7: 104,685,152 (GRCm39) |
T249M |
probably damaging |
Het |
Pcdh9 |
A |
C |
14: 93,564,204 (GRCm39) |
L1084R |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,955,218 (GRCm39) |
M543T |
probably benign |
Het |
Prss53 |
T |
A |
7: 127,487,964 (GRCm39) |
T173S |
possibly damaging |
Het |
Reep2 |
C |
A |
18: 34,973,807 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,003 (GRCm39) |
D703G |
probably benign |
Het |
Sbf2 |
T |
G |
7: 110,159,502 (GRCm39) |
D36A |
probably damaging |
Het |
Sh3kbp1 |
C |
T |
X: 158,586,724 (GRCm39) |
R99W |
probably damaging |
Het |
Sis |
T |
A |
3: 72,863,523 (GRCm39) |
R238S |
probably benign |
Het |
Slc35e2 |
T |
A |
4: 155,703,019 (GRCm39) |
V344D |
probably damaging |
Het |
Specc1 |
G |
A |
11: 62,019,194 (GRCm39) |
V678I |
probably benign |
Het |
Supt6 |
T |
C |
11: 78,123,623 (GRCm39) |
D49G |
possibly damaging |
Het |
Tecpr1 |
G |
A |
5: 144,146,821 (GRCm39) |
A515V |
probably benign |
Het |
Tlr4 |
G |
A |
4: 66,752,298 (GRCm39) |
|
probably null |
Het |
Tmco5b |
A |
G |
2: 113,118,619 (GRCm39) |
E114G |
probably damaging |
Het |
Tspear |
A |
T |
10: 77,688,690 (GRCm39) |
|
probably benign |
Het |
Txlnb |
T |
A |
10: 17,719,116 (GRCm39) |
V649E |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,651,818 (GRCm39) |
|
probably benign |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
Het |
Vmn2r70 |
T |
A |
7: 85,214,211 (GRCm39) |
T314S |
probably benign |
Het |
Zfp938 |
G |
T |
10: 82,061,906 (GRCm39) |
T238K |
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 |
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 |
2015-04-16 |