Incidental Mutation 'R9353:Ces3a'
| ID |
708221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3a
|
| Ensembl Gene |
ENSMUSG00000069922 |
| Gene Name |
carboxylesterase 3A |
| Synonyms |
Es-male carboxylesterase, Es31 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105775233-105785045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105776547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 45
(R45L)
|
| 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: R45L
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: R45L
| 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: R45L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: R45L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,517,890 (GRCm39) |
V316D |
possibly damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,774,954 (GRCm39) |
E159G |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,691 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,427,433 (GRCm39) |
D1046G |
probably damaging |
Het |
| Ccl12 |
A |
T |
11: 81,993,437 (GRCm39) |
D25V |
possibly damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cntln |
G |
T |
4: 84,802,597 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,421,107 (GRCm39) |
|
probably null |
Het |
| Cxxc4 |
G |
T |
3: 133,945,913 (GRCm39) |
G165C |
unknown |
Het |
| Dab2ip |
G |
A |
2: 35,598,851 (GRCm39) |
C181Y |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,434 (GRCm39) |
V403A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,578,507 (GRCm39) |
S3089P |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,067,571 (GRCm39) |
I1196N |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,116,462 (GRCm39) |
Y76C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,707,028 (GRCm39) |
H299Q |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,259 (GRCm39) |
N85S |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,623 (GRCm39) |
F999L |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,211 (GRCm39) |
S614R |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,587,088 (GRCm39) |
T457A |
probably benign |
Het |
| Inmt |
C |
T |
6: 55,151,984 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
C |
T |
2: 166,947,007 (GRCm39) |
G614S |
probably benign |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kdm5a |
T |
A |
6: 120,404,730 (GRCm39) |
V1324E |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,804 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 103,012,800 (GRCm39) |
H397Q |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,872,622 (GRCm39) |
D105E |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,545 (GRCm39) |
T1214A |
unknown |
Het |
| Nav3 |
A |
G |
10: 109,554,065 (GRCm39) |
S1766P |
probably damaging |
Het |
| Ncdn |
T |
A |
4: 126,644,464 (GRCm39) |
E119D |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,691,471 (GRCm39) |
A416E |
probably damaging |
Het |
| Nek5 |
A |
G |
8: 22,563,961 (GRCm39) |
V623A |
probably benign |
Het |
| Oas1g |
A |
G |
5: 121,023,986 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,062 (GRCm39) |
T224A |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,916 (GRCm39) |
S352P |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,382 (GRCm39) |
F535S |
probably damaging |
Het |
| Pitpnb |
T |
C |
5: 111,530,891 (GRCm39) |
L228P |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,161,145 (GRCm39) |
H368N |
probably damaging |
Het |
| Snrnp35 |
T |
A |
5: 124,628,559 (GRCm39) |
V124E |
probably damaging |
Het |
| Spdye4a |
C |
T |
5: 143,204,793 (GRCm39) |
M224I |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,792,267 (GRCm39) |
Y424H |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,271,060 (GRCm39) |
D190E |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,051 (GRCm39) |
D887G |
probably damaging |
Het |
| Tiam2 |
C |
T |
17: 3,558,074 (GRCm39) |
Q1233* |
probably null |
Het |
| Tmem88 |
A |
G |
11: 69,288,939 (GRCm39) |
V38A |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,902 (GRCm39) |
M30I |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,261 (GRCm39) |
H247R |
probably damaging |
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 |
|
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 |
|
Z1176:Ces3a
|
UTSW |
8 |
105,780,234 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTAGCCACTTGTTGAAGAGC -3'
(R):5'- TGCAGGGGTACTCACATTGG -3'
Sequencing Primer
(F):5'- ACTTGTTGAAGAGCCTAGCC -3'
(R):5'- ACTCACATTGGGGGATTGATGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation