Incidental Mutation 'IGL02982:Ces1a'
ID |
406577 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces1a
|
Ensembl Gene |
ENSMUSG00000071047 |
Gene Name |
carboxylesterase 1A |
Synonyms |
Gm4976 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02982
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93771603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 65
(F65L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
AlphaFold |
E9PYP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095211
AA Change: F65L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092836 Gene: ENSMUSG00000071047 AA Change: F65L
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
545 |
5.7e-169 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
286 |
8.4e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210764
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
G |
T |
8: 25,294,447 (GRCm39) |
A384D |
probably benign |
Het |
Adamts19 |
T |
A |
18: 59,157,590 (GRCm39) |
C961S |
probably damaging |
Het |
Agbl2 |
G |
A |
2: 90,636,159 (GRCm39) |
C565Y |
probably damaging |
Het |
Aox3 |
G |
A |
1: 58,166,846 (GRCm39) |
E190K |
probably benign |
Het |
Arf2 |
T |
G |
11: 103,872,602 (GRCm39) |
D74E |
probably damaging |
Het |
Bptf |
T |
G |
11: 106,967,500 (GRCm39) |
D960A |
probably damaging |
Het |
Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
Def8 |
T |
C |
8: 124,183,278 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 38,944,992 (GRCm39) |
L1295P |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,392,595 (GRCm39) |
H1061R |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,122,545 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
C |
16: 36,746,172 (GRCm39) |
D2917A |
probably damaging |
Het |
Gpc5 |
G |
A |
14: 115,607,400 (GRCm39) |
C334Y |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,214,871 (GRCm39) |
L252Q |
probably damaging |
Het |
Iars1 |
C |
T |
13: 49,863,185 (GRCm39) |
R546C |
probably benign |
Het |
Kbtbd8 |
G |
T |
6: 95,103,547 (GRCm39) |
V399L |
probably benign |
Het |
Kcnd2 |
A |
T |
6: 21,217,148 (GRCm39) |
D284V |
probably damaging |
Het |
Kcnj6 |
T |
C |
16: 94,633,376 (GRCm39) |
K227R |
possibly damaging |
Het |
Lhx9 |
A |
T |
1: 138,766,349 (GRCm39) |
H155Q |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,501,922 (GRCm39) |
V221A |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,815,491 (GRCm39) |
K2237* |
probably null |
Het |
Ntf3 |
A |
T |
6: 126,079,340 (GRCm39) |
D55E |
probably damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,865 (GRCm39) |
I84F |
probably benign |
Het |
Or4c15b |
G |
T |
2: 89,113,453 (GRCm39) |
T29K |
probably damaging |
Het |
Plek |
T |
A |
11: 16,931,826 (GRCm39) |
I342F |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,574,182 (GRCm39) |
Y853H |
probably damaging |
Het |
Psg29 |
A |
G |
7: 16,945,632 (GRCm39) |
T401A |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,158,533 (GRCm39) |
T822A |
probably benign |
Het |
Ptprq |
A |
C |
10: 107,422,545 (GRCm39) |
F1616V |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,305,998 (GRCm39) |
V19E |
probably damaging |
Het |
Scamp2 |
G |
A |
9: 57,488,832 (GRCm39) |
A178T |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,817,135 (GRCm39) |
H299R |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,014,854 (GRCm39) |
I445V |
probably benign |
Het |
Tas2r135 |
A |
G |
6: 42,383,187 (GRCm39) |
E242G |
probably benign |
Het |
Ttc22 |
T |
C |
4: 106,495,783 (GRCm39) |
V379A |
probably damaging |
Het |
Unc5d |
C |
T |
8: 29,142,881 (GRCm39) |
G857E |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,929,739 (GRCm39) |
I43V |
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,883,649 (GRCm39) |
M152K |
probably benign |
Het |
Wrn |
C |
T |
8: 33,833,094 (GRCm39) |
G133R |
probably damaging |
Het |
Zfyve26 |
G |
A |
12: 79,310,644 (GRCm39) |
T187M |
probably damaging |
Het |
Zic2 |
A |
G |
14: 122,715,979 (GRCm39) |
E367G |
probably damaging |
Het |
|
Other mutations in Ces1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00475:Ces1a
|
APN |
8 |
93,747,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00556:Ces1a
|
APN |
8 |
93,771,687 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00841:Ces1a
|
APN |
8 |
93,766,164 (GRCm39) |
nonsense |
probably null |
|
IGL01510:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01511:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01518:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01519:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01828:Ces1a
|
APN |
8 |
93,751,829 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01934:Ces1a
|
APN |
8 |
93,759,278 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02456:Ces1a
|
APN |
8 |
93,766,126 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02712:Ces1a
|
APN |
8 |
93,762,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03178:Ces1a
|
APN |
8 |
93,747,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Ces1a
|
APN |
8 |
93,766,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R0556:Ces1a
|
UTSW |
8 |
93,771,740 (GRCm39) |
missense |
probably benign |
0.01 |
R0613:Ces1a
|
UTSW |
8 |
93,752,209 (GRCm39) |
missense |
probably benign |
0.11 |
R0627:Ces1a
|
UTSW |
8 |
93,768,671 (GRCm39) |
missense |
probably benign |
0.03 |
R0686:Ces1a
|
UTSW |
8 |
93,749,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R0724:Ces1a
|
UTSW |
8 |
93,766,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R0930:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1063:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1215:Ces1a
|
UTSW |
8 |
93,759,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Ces1a
|
UTSW |
8 |
93,760,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R1417:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1850:Ces1a
|
UTSW |
8 |
93,753,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R2072:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2074:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2075:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2114:Ces1a
|
UTSW |
8 |
93,766,179 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2213:Ces1a
|
UTSW |
8 |
93,751,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R2346:Ces1a
|
UTSW |
8 |
93,751,947 (GRCm39) |
missense |
probably benign |
0.07 |
R2347:Ces1a
|
UTSW |
8 |
93,751,947 (GRCm39) |
missense |
probably benign |
0.07 |
R2483:Ces1a
|
UTSW |
8 |
93,753,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Ces1a
|
UTSW |
8 |
93,747,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Ces1a
|
UTSW |
8 |
93,751,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R4691:Ces1a
|
UTSW |
8 |
93,759,287 (GRCm39) |
missense |
probably benign |
0.00 |
R4992:Ces1a
|
UTSW |
8 |
93,771,650 (GRCm39) |
missense |
probably benign |
0.08 |
R5074:Ces1a
|
UTSW |
8 |
93,759,303 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6086:Ces1a
|
UTSW |
8 |
93,753,981 (GRCm39) |
missense |
probably benign |
0.03 |
R7390:Ces1a
|
UTSW |
8 |
93,771,469 (GRCm39) |
splice site |
probably null |
|
R8926:Ces1a
|
UTSW |
8 |
93,751,841 (GRCm39) |
missense |
probably benign |
0.05 |
R9365:Ces1a
|
UTSW |
8 |
93,774,727 (GRCm39) |
missense |
probably benign |
0.00 |
R9582:Ces1a
|
UTSW |
8 |
93,766,156 (GRCm39) |
missense |
probably benign |
0.33 |
R9636:Ces1a
|
UTSW |
8 |
93,759,263 (GRCm39) |
missense |
probably benign |
0.17 |
Z1088:Ces1a
|
UTSW |
8 |
93,752,235 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Ces1a
|
UTSW |
8 |
93,762,713 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2016-08-02 |