Incidental Mutation 'R1223:Ces3a'
| ID |
152806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3a
|
| Ensembl Gene |
ENSMUSG00000069922 |
| Gene Name |
carboxylesterase 3A |
| Synonyms |
Es-male carboxylesterase, Es31 |
| MMRRC Submission |
039292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105775233-105785045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105784661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 548
(T548S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093222]
[ENSMUST00000093223]
|
| AlphaFold |
Q63880 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093222
AA Change: T548S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: T548S
| 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: T501S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: T501S
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
T |
16: 4,116,612 (GRCm39) |
V873E |
probably damaging |
Het |
| Arl10 |
A |
G |
13: 54,726,744 (GRCm39) |
D174G |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,730 (GRCm39) |
Y592F |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,134,265 (GRCm39) |
E694G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,679,779 (GRCm39) |
Y163H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,070 (GRCm39) |
S421P |
possibly damaging |
Het |
| Cysltr2 |
A |
T |
14: 73,267,539 (GRCm39) |
V57E |
probably damaging |
Het |
| Ddx47 |
G |
A |
6: 134,989,277 (GRCm39) |
V34I |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,769,660 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
G |
T |
18: 20,706,550 (GRCm39) |
C22F |
probably benign |
Het |
| Gbp10 |
A |
C |
5: 105,366,867 (GRCm39) |
V455G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,103 (GRCm39) |
I797F |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,359,595 (GRCm39) |
V62E |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,557,838 (GRCm39) |
E58G |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,512 (GRCm39) |
T182A |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,773 (GRCm39) |
I123F |
probably benign |
Het |
| Or9m1 |
G |
A |
2: 87,733,163 (GRCm39) |
P286S |
probably damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,699 (GRCm39) |
L191F |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,609,720 (GRCm39) |
R406C |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,690,457 (GRCm39) |
L714F |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,755,670 (GRCm39) |
F1886S |
probably damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,306,277 (GRCm39) |
E32G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,120 (GRCm39) |
L260P |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,975,282 (GRCm39) |
N175I |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,525 (GRCm39) |
I68F |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,515 (GRCm39) |
T325S |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,948,733 (GRCm39) |
N484S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,693,431 (GRCm39) |
M1833K |
possibly damaging |
Het |
| Thoc5 |
A |
G |
11: 4,871,922 (GRCm39) |
E449G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,464 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCACAGGGTGAGTAGGTTACAC -3'
(R):5'- ACAGCAGCATGGTCCAGGCTAAAG -3'
Sequencing Primer
(F):5'- TACACAGGGCAGGCTTTGG -3'
(R):5'- GGTCCAGGCTAAAGTCTCTGAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation