Incidental Mutation 'R6795:Ces3a'
| ID |
532976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3a
|
| Ensembl Gene |
ENSMUSG00000069922 |
| Gene Name |
carboxylesterase 3A |
| Synonyms |
Es-male carboxylesterase, Es31 |
| MMRRC Submission |
044908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6795 (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 A
at 105777228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 184
(G184R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093222]
[ENSMUST00000093223]
|
| AlphaFold |
Q63880 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093222
AA Change: G184R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: G184R
| 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 |
possibly damaging
Transcript: ENSMUST00000093223
AA Change: G184R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: G184R
| 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 |
|
| Meta Mutation Damage Score |
0.6447 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
C |
A |
4: 73,869,065 (GRCm39) |
|
probably benign |
Het |
| A2m |
T |
A |
6: 121,625,281 (GRCm39) |
|
probably null |
Het |
| Aadacl2fm3 |
A |
T |
3: 59,776,357 (GRCm39) |
Y176F |
probably damaging |
Het |
| Agps |
A |
G |
2: 75,724,402 (GRCm39) |
D472G |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,726,961 (GRCm39) |
V158A |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,833,873 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,985 (GRCm39) |
N147D |
probably damaging |
Het |
| Cd8b1 |
T |
A |
6: 71,303,324 (GRCm39) |
L133Q |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,652,887 (GRCm39) |
S19R |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,694,449 (GRCm39) |
N494S |
probably damaging |
Het |
| Dlgap1 |
C |
A |
17: 71,125,069 (GRCm39) |
A614E |
possibly damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| Ephb2 |
A |
C |
4: 136,400,646 (GRCm39) |
L544R |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,045,232 (GRCm39) |
T21S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,811,303 (GRCm39) |
M2541L |
probably benign |
Het |
| Galnt2 |
T |
C |
8: 125,070,175 (GRCm39) |
F530S |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,262,676 (GRCm39) |
C871Y |
probably damaging |
Het |
| Gmds |
C |
T |
13: 32,418,335 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,841,270 (GRCm39) |
V620A |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,994,230 (GRCm39) |
T908A |
probably damaging |
Het |
| Or5d18 |
C |
T |
2: 87,864,668 (GRCm39) |
V272I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcf11 |
A |
C |
7: 92,306,786 (GRCm39) |
N1127K |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,338 (GRCm39) |
K1979E |
probably damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,980 (GRCm39) |
|
probably benign |
Het |
| Sema5b |
T |
A |
16: 35,478,941 (GRCm39) |
C588* |
probably null |
Het |
| Skint5 |
C |
T |
4: 113,524,420 (GRCm39) |
E854K |
unknown |
Het |
| Slc25a42 |
A |
G |
8: 70,641,040 (GRCm39) |
Y187H |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,953,577 (GRCm39) |
D182E |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,740 (GRCm39) |
I1047V |
probably damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,102 (GRCm39) |
D593G |
probably damaging |
Het |
| Thnsl1 |
C |
T |
2: 21,218,303 (GRCm39) |
Q165* |
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
| Ttf2 |
G |
A |
3: 100,866,578 (GRCm39) |
A518V |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,422 (GRCm39) |
Y28C |
possibly damaging |
Het |
| Zzef1 |
A |
G |
11: 72,741,485 (GRCm39) |
E709G |
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 |
|
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 |
|
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'- TACAAGGTGAGTGGCTGGAGTC -3'
(R):5'- TGGATGTCAGGAATCAACTAGGC -3'
Sequencing Primer
(F):5'- TGGCTGGAGTCCAAGAAGCTG -3'
(R):5'- GAACCGGGTCTACTTAGTGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation