Incidental Mutation 'IGL01557:Ces3a'
| ID |
90748 |
| 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 # |
IGL01557
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105775233-105785045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105784383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 439
(T439K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093222]
[ENSMUST00000093223]
|
| AlphaFold |
Q63880 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093222
AA Change: T486K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: T486K
| 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 damaging
Transcript: ENSMUST00000093223
AA Change: T439K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: T439K
| 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: ENSMUST00000212481
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
| Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
| Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
| Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
| Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
| Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
| Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
| Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,426 (GRCm39) |
V195D |
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 |
|
IGL02092:Ces3a
|
APN |
8 |
105,776,962 (GRCm39) |
splice site |
probably benign |
|
|
IGL02140:Ces3a
|
APN |
8 |
105,782,263 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2013-12-09 |
Incidental Mutation