Incidental Mutation 'R8721:Ces2b'
| ID |
662118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| MMRRC Submission |
068717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R8721 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105560527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 114
(V114D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
| AlphaFold |
Q6PDB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059449
AA Change: V114D
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: V114D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
10 |
535 |
8.5e-175 |
PFAM |
|
Pfam:Abhydrolase_3
|
140 |
305 |
1.8e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
161 |
296 |
9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163042
|
| SMART Domains |
Protein: ENSMUSP00000124796
Gene: ENSMUSG00000050097
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,035,115 (GRCm39) |
D684G |
possibly damaging |
Het |
| Abhd16a |
T |
C |
17: 35,310,571 (GRCm39) |
V94A |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,806 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
G |
T |
16: 85,594,775 (GRCm39) |
T621K |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,023,565 (GRCm39) |
T200S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,427,058 (GRCm39) |
V598A |
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,933,928 (GRCm39) |
F323S |
possibly damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,879,335 (GRCm39) |
S1785P |
unknown |
Het |
| Cfap73 |
T |
C |
5: 120,768,089 (GRCm39) |
E223G |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,314,015 (GRCm39) |
N78S |
possibly damaging |
Het |
| Cyp7a1 |
G |
T |
4: 6,268,273 (GRCm39) |
A484E |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,986,124 (GRCm39) |
T1170K |
probably damaging |
Het |
| Fam83d |
G |
T |
2: 158,627,522 (GRCm39) |
V404L |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,157,382 (GRCm39) |
V289I |
probably benign |
Het |
| Frs2 |
T |
G |
10: 116,909,935 (GRCm39) |
I476L |
probably benign |
Het |
| Gbp2b |
A |
T |
3: 142,312,705 (GRCm39) |
I363F |
possibly damaging |
Het |
| Gm8267 |
A |
T |
14: 44,959,507 (GRCm39) |
F186I |
possibly damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,605 (GRCm39) |
L3P |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,315,189 (GRCm39) |
L3671F |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,982,922 (GRCm39) |
D260G |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,111,619 (GRCm39) |
K440E |
probably damaging |
Het |
| Morn4 |
A |
T |
19: 42,066,439 (GRCm39) |
N49K |
possibly damaging |
Het |
| Mtmr6 |
T |
G |
14: 60,527,128 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
T |
16: 34,817,176 (GRCm39) |
D1848V |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,140,064 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,440,186 (GRCm39) |
K87E |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,055,386 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,969,846 (GRCm39) |
Q405L |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,703,798 (GRCm39) |
S30P |
|
Het |
| Suclg1 |
G |
T |
6: 73,246,362 (GRCm39) |
L218F |
probably damaging |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,002,889 (GRCm39) |
L846P |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,599 (GRCm39) |
N199S |
probably benign |
Het |
| Traj35 |
C |
T |
14: 54,421,272 (GRCm39) |
T14I |
|
Het |
| Tril |
A |
G |
6: 53,797,183 (GRCm39) |
V13A |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,278 (GRCm39) |
S625T |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,784 (GRCm39) |
F464L |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,075,044 (GRCm39) |
|
probably null |
Het |
| Zfp346 |
A |
G |
13: 55,261,491 (GRCm39) |
S94G |
possibly damaging |
Het |
| Zfp429 |
T |
A |
13: 67,538,331 (GRCm39) |
Y371F |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,522 (GRCm39) |
E186V |
probably benign |
Het |
|
| Other mutations in Ces2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Ces2b
|
APN |
8 |
105,561,236 (GRCm39) |
splice site |
probably benign |
|
|
IGL01905:Ces2b
|
APN |
8 |
105,560,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Ces2b
|
APN |
8 |
105,561,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Ces2b
|
APN |
8 |
105,559,202 (GRCm39) |
splice site |
probably benign |
|
|
IGL02885:Ces2b
|
APN |
8 |
105,561,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Ces2b
|
UTSW |
8 |
105,563,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Ces2b
|
UTSW |
8 |
105,563,144 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0403:Ces2b
|
UTSW |
8 |
105,560,577 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0600:Ces2b
|
UTSW |
8 |
105,562,542 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0637:Ces2b
|
UTSW |
8 |
105,561,237 (GRCm39) |
splice site |
probably benign |
|
|
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1574:Ces2b
|
UTSW |
8 |
105,562,521 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3036:Ces2b
|
UTSW |
8 |
105,561,258 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3086:Ces2b
|
UTSW |
8 |
105,559,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4761:Ces2b
|
UTSW |
8 |
105,563,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4920:Ces2b
|
UTSW |
8 |
105,563,538 (GRCm39) |
missense |
probably benign |
|
|
R4937:Ces2b
|
UTSW |
8 |
105,559,413 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5211:Ces2b
|
UTSW |
8 |
105,561,695 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5550:Ces2b
|
UTSW |
8 |
105,565,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5790:Ces2b
|
UTSW |
8 |
105,560,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Ces2b
|
UTSW |
8 |
105,562,901 (GRCm39) |
nonsense |
probably null |
|
|
R6692:Ces2b
|
UTSW |
8 |
105,563,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Ces2b
|
UTSW |
8 |
105,563,501 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6899:Ces2b
|
UTSW |
8 |
105,563,398 (GRCm39) |
splice site |
probably null |
|
|
R7148:Ces2b
|
UTSW |
8 |
105,564,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7270:Ces2b
|
UTSW |
8 |
105,564,472 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7571:Ces2b
|
UTSW |
8 |
105,561,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Ces2b
|
UTSW |
8 |
105,564,017 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7841:Ces2b
|
UTSW |
8 |
105,561,692 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7892:Ces2b
|
UTSW |
8 |
105,559,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Ces2b
|
UTSW |
8 |
105,561,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Ces2b
|
UTSW |
8 |
105,559,258 (GRCm39) |
missense |
unknown |
|
|
R8296:Ces2b
|
UTSW |
8 |
105,563,112 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9100:Ces2b
|
UTSW |
8 |
105,558,221 (GRCm39) |
unclassified |
probably benign |
|
|
R9361:Ces2b
|
UTSW |
8 |
105,564,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9461:Ces2b
|
UTSW |
8 |
105,564,011 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9477:Ces2b
|
UTSW |
8 |
105,560,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ces2b
|
UTSW |
8 |
105,560,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces2b
|
UTSW |
8 |
105,559,227 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGACACCCACAGTCTTTC -3'
(R):5'- TCCATCCTGTAAAGGAACTCAGG -3'
Sequencing Primer
(F):5'- GGAGGTCTCCTTAAAAATCTGGCTC -3'
(R):5'- GGAACTCAGGTTGCTTTTGTCCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation