Incidental Mutation 'R7892:Ces2b'
| ID |
609389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| MMRRC Submission |
045944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7892 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105559385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 84
(W84R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
| AlphaFold |
Q6PDB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059449
AA Change: W84R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: W84R
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
G |
16: 14,436,349 (GRCm39) |
E134G |
|
Het |
| Acsm4 |
G |
A |
7: 119,293,889 (GRCm39) |
V87M |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 90,009,288 (GRCm39) |
N125S |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,760,885 (GRCm39) |
E47G |
unknown |
Het |
| C1ra |
A |
G |
6: 124,496,374 (GRCm39) |
M367V |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,436,579 (GRCm39) |
T835A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,232,865 (GRCm39) |
E741G |
probably damaging |
Het |
| Cspg4b |
C |
T |
13: 113,456,140 (GRCm39) |
R729C |
|
Het |
| D330020A13Rik |
T |
C |
6: 120,271,819 (GRCm39) |
L165P |
unknown |
Het |
| Dtnbp1 |
A |
T |
13: 45,075,765 (GRCm39) |
L326* |
probably null |
Het |
| Ecpas |
T |
C |
4: 58,828,593 (GRCm39) |
I947V |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,003,588 (GRCm39) |
|
probably null |
Het |
| Fbxl9 |
A |
T |
8: 106,042,165 (GRCm39) |
I221N |
possibly damaging |
Het |
| Fuom |
T |
A |
7: 139,679,492 (GRCm39) |
I143F |
unknown |
Het |
| Gm14444 |
A |
T |
2: 174,858,524 (GRCm39) |
M33L |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,540,643 (GRCm39) |
T2889A |
probably benign |
Het |
| Kif5b |
G |
A |
18: 6,212,517 (GRCm39) |
T769M |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,343,682 (GRCm39) |
R567H |
not run |
Het |
| Kmt2c |
A |
T |
5: 25,504,814 (GRCm39) |
M3498K |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,829,700 (GRCm39) |
L15* |
probably null |
Het |
| Malt1 |
G |
A |
18: 65,597,187 (GRCm39) |
|
probably null |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Oacyl |
T |
C |
18: 65,870,918 (GRCm39) |
L373P |
probably benign |
Het |
| Or10d1 |
A |
C |
9: 39,483,845 (GRCm39) |
S237A |
possibly damaging |
Het |
| Or4b1d |
T |
C |
2: 89,968,836 (GRCm39) |
I216V |
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,662 (GRCm39) |
C95* |
probably null |
Het |
| Or5b21 |
C |
T |
19: 12,839,843 (GRCm39) |
R235* |
probably null |
Het |
| Pcdh20 |
A |
T |
14: 88,704,867 (GRCm39) |
L811* |
probably null |
Het |
| Pgrmc2 |
A |
T |
3: 41,037,415 (GRCm39) |
D5E |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,585,401 (GRCm39) |
F49L |
probably benign |
Het |
| Pip5k1b |
T |
C |
19: 24,337,457 (GRCm39) |
D277G |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,895 (GRCm39) |
V11A |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,817,661 (GRCm39) |
V201E |
not run |
Het |
| Samhd1 |
A |
G |
2: 156,958,415 (GRCm39) |
S269P |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,920,132 (GRCm39) |
V15A |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,024 (GRCm39) |
D42G |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,403,810 (GRCm39) |
N2664Y |
probably damaging |
Het |
| Tcstv1b |
G |
T |
13: 120,634,695 (GRCm39) |
|
probably benign |
Het |
| Treh |
A |
G |
9: 44,596,015 (GRCm39) |
Y435C |
probably damaging |
Het |
| Trim59 |
A |
G |
3: 68,945,140 (GRCm39) |
S67P |
probably benign |
Het |
| Trim68 |
A |
T |
7: 102,328,004 (GRCm39) |
C309S |
unknown |
Het |
| Tubb4a |
G |
T |
17: 57,387,880 (GRCm39) |
S382* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,217 (GRCm39) |
I829N |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,722 (GRCm39) |
T128A |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,208,588 (GRCm39) |
I630L |
possibly damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,306,156 (GRCm39) |
I632T |
probably benign |
Het |
| Zfp558 |
A |
G |
9: 18,379,993 (GRCm39) |
S13P |
possibly damaging |
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 |
|
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 |
|
R8721:Ces2b
|
UTSW |
8 |
105,560,527 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- CTGGCAGATGGTTGCAGATAC -3'
(R):5'- AACACATCACTAGGAAAATGCATGG -3'
Sequencing Primer
(F):5'- CAGATGGTTGCAGATACATAACCCTG -3'
(R):5'- GCATGGTGCACTCATCCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation