Incidental Mutation 'R4002:Ces3a'
ID |
311310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces3a
|
Ensembl Gene |
ENSMUSG00000069922 |
Gene Name |
carboxylesterase 3A |
Synonyms |
Es-male carboxylesterase, Es31 |
MMRRC Submission |
041609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105775233-105785045 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105784093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 431
(D431V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093222]
[ENSMUST00000093223]
|
AlphaFold |
Q63880 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093222
AA Change: D431V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090910 Gene: ENSMUSG00000069922 AA Change: D431V
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: D384V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000090911 Gene: ENSMUSG00000069922 AA Change: D384V
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
|
Meta Mutation Damage Score |
0.3023 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (29/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,274,964 (GRCm39) |
N222K |
possibly damaging |
Het |
Abca13 |
A |
T |
11: 9,535,415 (GRCm39) |
M4680L |
probably benign |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Afdn |
T |
C |
17: 14,104,179 (GRCm39) |
S1157P |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,629,479 (GRCm39) |
T63A |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,801,176 (GRCm39) |
|
probably benign |
Het |
Cdh18 |
T |
A |
15: 23,383,048 (GRCm39) |
L277I |
possibly damaging |
Het |
Dbx1 |
T |
C |
7: 49,286,265 (GRCm39) |
S67G |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,381,116 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,670,840 (GRCm39) |
T471S |
probably benign |
Het |
Efcab8 |
A |
T |
2: 153,623,726 (GRCm39) |
K70N |
probably benign |
Het |
Grcc10 |
A |
T |
6: 124,717,933 (GRCm39) |
M1K |
probably null |
Het |
Higd2a |
G |
C |
13: 54,738,540 (GRCm39) |
C53S |
probably damaging |
Het |
Kcna4 |
C |
T |
2: 107,126,259 (GRCm39) |
P331L |
probably damaging |
Het |
Keg1 |
T |
A |
19: 12,696,307 (GRCm39) |
S164T |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,617,154 (GRCm39) |
V1031A |
probably benign |
Het |
Obsl1 |
G |
A |
1: 75,476,743 (GRCm39) |
T737I |
possibly damaging |
Het |
Or10al7 |
G |
A |
17: 38,365,879 (GRCm39) |
L193F |
probably damaging |
Het |
Or7g33 |
C |
T |
9: 19,449,202 (GRCm39) |
R8K |
probably benign |
Het |
Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,854,630 (GRCm39) |
M202V |
probably damaging |
Het |
Tcf19 |
A |
G |
17: 35,826,822 (GRCm39) |
|
probably null |
Het |
Tlr11 |
T |
C |
14: 50,599,984 (GRCm39) |
F657L |
probably benign |
Het |
Ttf2 |
G |
A |
3: 100,855,541 (GRCm39) |
Q96* |
probably null |
Het |
Ube2frt |
G |
A |
12: 36,140,635 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp810 |
C |
T |
9: 22,190,188 (GRCm39) |
C240Y |
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 |
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'- TCAAAAGCAGTGGTGTGACC -3'
(R):5'- TAGCCTAGGGATGGGATATCTG -3'
Sequencing Primer
(F):5'- GTAACGTTCATGCCAGCACTTAGG -3'
(R):5'- ATATCTGTTTGTTCTTACCCAGGAG -3'
|
Posted On |
2015-04-29 |