Incidental Mutation 'R1224:Ces3a'
| ID |
152837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3a
|
| Ensembl Gene |
ENSMUSG00000069922 |
| Gene Name |
carboxylesterase 3A |
| Synonyms |
Es-male carboxylesterase, Es31 |
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1224 (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 105778141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 204
(D204V)
|
| 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: D204V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: D204V
| 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: D204V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: D204V
| 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: ENSMUST00000212329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213054
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,471 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Atp6ap1l |
G |
A |
13: 91,034,675 (GRCm39) |
Q236* |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,938,824 (GRCm39) |
L75P |
probably damaging |
Het |
| Krt31 |
C |
T |
11: 99,940,690 (GRCm39) |
|
probably null |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,809,311 (GRCm39) |
T299S |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
possibly 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 |
|
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'- ACCATCTAAGAGCCAGCTCTGACTG -3'
(R):5'- AGAATCTTGCTGATGACAACCCCAC -3'
Sequencing Primer
(F):5'- CACATACTAGGAAAACAGGTGATTC -3'
(R):5'- ACTCTGCGATATGGCTCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation