Incidental Mutation 'IGL01519:Ces1a'
| ID |
278553 |
| 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 # |
IGL01519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93771726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 24
(P24T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
| AlphaFold |
E9PYP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095211
AA Change: P24T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: P24T
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap17b |
T |
C |
X: 35,875,503 (GRCm39) |
D668G |
probably damaging |
Het |
| Btbd3 |
A |
G |
2: 138,121,697 (GRCm39) |
M127V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,518,575 (GRCm39) |
T462A |
possibly damaging |
Het |
| Chd1 |
G |
A |
17: 17,598,831 (GRCm39) |
G98R |
probably damaging |
Het |
| Ckap2 |
G |
A |
8: 22,658,914 (GRCm39) |
R610C |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,895,157 (GRCm39) |
R1168H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,460,246 (GRCm39) |
T3515I |
probably benign |
Het |
| Dcn |
A |
G |
10: 97,319,385 (GRCm39) |
Q54R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,227,006 (GRCm39) |
I86V |
probably benign |
Het |
| Dram2 |
T |
A |
3: 106,478,945 (GRCm39) |
I179N |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,158,939 (GRCm39) |
M2275I |
probably benign |
Het |
| Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,646 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,092,696 (GRCm39) |
I22L |
unknown |
Het |
| Golga4 |
A |
G |
9: 118,356,160 (GRCm39) |
E104G |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,753,698 (GRCm39) |
R699H |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,262 (GRCm39) |
E181A |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,699 (GRCm39) |
F50S |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,410,398 (GRCm39) |
I46N |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,123,071 (GRCm39) |
D35G |
probably benign |
Het |
| Plod2 |
G |
A |
9: 92,477,348 (GRCm39) |
V347I |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,144,331 (GRCm39) |
R161G |
probably benign |
Het |
| Snx13 |
T |
C |
12: 35,188,471 (GRCm39) |
|
probably benign |
Het |
| Taf1 |
T |
A |
X: 100,606,412 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,313,634 (GRCm39) |
Y351C |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,544,384 (GRCm39) |
D2133E |
probably damaging |
Het |
| Thap7 |
A |
C |
16: 17,346,609 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,306,919 (GRCm39) |
S1505T |
probably benign |
Het |
| Trav9-2 |
C |
T |
14: 53,828,809 (GRCm39) |
R60W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
IGL02982:Ces1a
|
APN |
8 |
93,771,603 (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 |
2015-04-16 |
Incidental Mutation