Incidental Mutation 'IGL02140:Ces3a'
ID |
281494 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces3a
|
Ensembl Gene |
ENSMUSG00000069922 |
Gene Name |
carboxylesterase 3A |
Synonyms |
Es-male carboxylesterase, Es31 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
IGL02140
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105775233-105785045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105782263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 325
(E325G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093222]
[ENSMUST00000093223]
|
AlphaFold |
Q63880 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093222
AA Change: E372G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000090910 Gene: ENSMUSG00000069922 AA Change: E372G
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
16 |
547 |
1.1e-163 |
PFAM |
Pfam:Abhydrolase_3
|
147 |
305 |
5.2e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093223
AA Change: E325G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000090911 Gene: ENSMUSG00000069922 AA Change: E325G
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
16 |
320 |
1.4e-111 |
PFAM |
Pfam:Abhydrolase_3
|
147 |
319 |
4.8e-14 |
PFAM |
Pfam:COesterase
|
312 |
500 |
1.2e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213031
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213054
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,195,034 (GRCm39) |
V144I |
probably benign |
Het |
B3gat1 |
A |
G |
9: 26,669,043 (GRCm39) |
K325E |
possibly damaging |
Het |
Cd36 |
T |
A |
5: 18,033,766 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,515,639 (GRCm39) |
G136D |
unknown |
Het |
Cyp3a25 |
T |
G |
5: 145,946,273 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
C |
5: 146,039,690 (GRCm39) |
L321P |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,095,391 (GRCm39) |
S34P |
probably damaging |
Het |
Defa27 |
A |
T |
8: 21,805,674 (GRCm39) |
K13* |
probably null |
Het |
Disp2 |
T |
C |
2: 118,621,350 (GRCm39) |
F694S |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,437,732 (GRCm39) |
A454S |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,147,791 (GRCm39) |
D946E |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,791,379 (GRCm39) |
E880G |
probably damaging |
Het |
Fgfr4 |
T |
C |
13: 55,308,992 (GRCm39) |
V371A |
probably benign |
Het |
Frem3 |
G |
T |
8: 81,340,736 (GRCm39) |
V1010F |
possibly damaging |
Het |
Gm13283 |
G |
A |
4: 88,679,272 (GRCm39) |
V88I |
probably benign |
Het |
Gm5134 |
G |
A |
10: 75,821,945 (GRCm39) |
V260I |
probably benign |
Het |
Grhl2 |
A |
G |
15: 37,270,830 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,820,920 (GRCm39) |
W1090R |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,293,570 (GRCm39) |
V3506I |
probably benign |
Het |
Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
Iglv3 |
T |
A |
16: 19,060,160 (GRCm39) |
Q56L |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,079,831 (GRCm39) |
M436K |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,359,113 (GRCm39) |
K1110N |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,959,776 (GRCm39) |
E694G |
probably damaging |
Het |
Nup37 |
A |
C |
10: 87,994,791 (GRCm39) |
K118T |
probably benign |
Het |
Or10al7 |
A |
G |
17: 38,366,481 (GRCm39) |
M1T |
probably null |
Het |
Or4a73 |
T |
C |
2: 89,420,586 (GRCm39) |
E291G |
probably damaging |
Het |
P3h1 |
A |
G |
4: 119,095,062 (GRCm39) |
D273G |
probably damaging |
Het |
Pcsk9 |
T |
C |
4: 106,311,843 (GRCm39) |
D178G |
probably benign |
Het |
Phyhipl |
T |
C |
10: 70,406,660 (GRCm39) |
K53R |
probably damaging |
Het |
Pkp3 |
T |
G |
7: 140,669,249 (GRCm39) |
L697R |
probably damaging |
Het |
Rab11fip3 |
A |
G |
17: 26,286,866 (GRCm39) |
V429A |
probably benign |
Het |
Rgl2 |
A |
G |
17: 34,152,098 (GRCm39) |
N295S |
probably damaging |
Het |
Spag5 |
A |
T |
11: 78,206,459 (GRCm39) |
D817V |
possibly damaging |
Het |
Tas2r117 |
C |
A |
6: 132,780,558 (GRCm39) |
T232K |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
Timd4 |
T |
A |
11: 46,710,841 (GRCm39) |
S248T |
possibly damaging |
Het |
Tmem207 |
A |
T |
16: 26,335,490 (GRCm39) |
N82K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,538,557 (GRCm39) |
T34714S |
possibly damaging |
Het |
Vmn1r194 |
G |
A |
13: 22,428,706 (GRCm39) |
V108I |
probably benign |
Het |
Vmn2r24 |
T |
A |
6: 123,757,631 (GRCm39) |
S166R |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,479,696 (GRCm39) |
F159S |
probably damaging |
Het |
Wdr72 |
A |
T |
9: 74,117,505 (GRCm39) |
Q739L |
probably benign |
Het |
|
Other mutations in Ces3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00955:Ces3a
|
APN |
8 |
105,777,202 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01557:Ces3a
|
APN |
8 |
105,784,383 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02092:Ces3a
|
APN |
8 |
105,776,962 (GRCm39) |
splice site |
probably benign |
|
K3955:Ces3a
|
UTSW |
8 |
105,777,259 (GRCm39) |
splice site |
probably benign |
|
R0724:Ces3a
|
UTSW |
8 |
105,776,827 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1066:Ces3a
|
UTSW |
8 |
105,782,288 (GRCm39) |
missense |
probably benign |
0.01 |
R1223:Ces3a
|
UTSW |
8 |
105,784,661 (GRCm39) |
missense |
probably benign |
0.00 |
R1224:Ces3a
|
UTSW |
8 |
105,778,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Ces3a
|
UTSW |
8 |
105,784,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1513:Ces3a
|
UTSW |
8 |
105,776,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1740:Ces3a
|
UTSW |
8 |
105,775,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Ces3a
|
UTSW |
8 |
105,782,212 (GRCm39) |
missense |
probably benign |
|
R3407:Ces3a
|
UTSW |
8 |
105,777,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R4002:Ces3a
|
UTSW |
8 |
105,784,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Ces3a
|
UTSW |
8 |
105,780,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R5045:Ces3a
|
UTSW |
8 |
105,777,248 (GRCm39) |
critical splice donor site |
probably null |
|
R5331:Ces3a
|
UTSW |
8 |
105,784,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R5450:Ces3a
|
UTSW |
8 |
105,784,550 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5535:Ces3a
|
UTSW |
8 |
105,778,196 (GRCm39) |
missense |
probably benign |
0.34 |
R5640:Ces3a
|
UTSW |
8 |
105,778,377 (GRCm39) |
missense |
probably benign |
0.42 |
R5881:Ces3a
|
UTSW |
8 |
105,777,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R6795:Ces3a
|
UTSW |
8 |
105,777,228 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7112:Ces3a
|
UTSW |
8 |
105,784,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Ces3a
|
UTSW |
8 |
105,782,239 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7419:Ces3a
|
UTSW |
8 |
105,783,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Ces3a
|
UTSW |
8 |
105,780,322 (GRCm39) |
splice site |
probably null |
|
R7793:Ces3a
|
UTSW |
8 |
105,782,293 (GRCm39) |
critical splice donor site |
probably null |
|
R7934:Ces3a
|
UTSW |
8 |
105,775,345 (GRCm39) |
critical splice donor site |
probably null |
|
R8512:Ces3a
|
UTSW |
8 |
105,784,661 (GRCm39) |
missense |
probably benign |
0.00 |
R8757:Ces3a
|
UTSW |
8 |
105,784,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R8759:Ces3a
|
UTSW |
8 |
105,784,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R9353:Ces3a
|
UTSW |
8 |
105,776,547 (GRCm39) |
missense |
probably benign |
0.17 |
Z1176:Ces3a
|
UTSW |
8 |
105,780,234 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Posted On |
2015-04-16 |