Incidental Mutation 'R6403:Ces2b'
| ID |
516220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| MMRRC Submission |
044382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 105562901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 323
(L323*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
| AlphaFold |
Q6PDB7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059449
AA Change: L323*
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: L323*
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,594 (GRCm39) |
I623V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,538 (GRCm39) |
R317* |
probably null |
Het |
| Carmil1 |
G |
A |
13: 24,265,950 (GRCm39) |
R271C |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 113,837,686 (GRCm39) |
I286F |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,691 (GRCm39) |
V285D |
probably damaging |
Het |
| Dok5 |
G |
T |
2: 170,671,820 (GRCm39) |
A79S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,160 (GRCm39) |
N557S |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,464,644 (GRCm39) |
R178H |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,840,971 (GRCm39) |
S35P |
probably damaging |
Het |
| Il3ra |
G |
T |
14: 14,347,137 (GRCm38) |
A3S |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,304,624 (GRCm39) |
|
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,485 (GRCm39) |
S420R |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,975,045 (GRCm39) |
N293S |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,647,269 (GRCm39) |
I235T |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,969,802 (GRCm39) |
T550A |
probably benign |
Het |
| Nckipsd |
G |
T |
9: 108,688,882 (GRCm39) |
R139L |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,289,846 (GRCm39) |
V14A |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,538 (GRCm39) |
L22P |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,343 (GRCm39) |
Q118* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,399 (GRCm39) |
C668F |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,211,252 (GRCm39) |
M231K |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,999,128 (GRCm39) |
V333A |
probably benign |
Het |
| Trit1 |
C |
A |
4: 122,933,372 (GRCm39) |
T103K |
possibly damaging |
Het |
| Tspan13 |
A |
G |
12: 36,065,704 (GRCm39) |
F203S |
probably damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,528,939 (GRCm39) |
D388N |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,683,015 (GRCm39) |
A55V |
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 |
|
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 |
|
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'- GCAGATCATCCTGAAACTAGTGAG -3'
(R):5'- ATTGTTTGAGCAGAGCCCATG -3'
Sequencing Primer
(F):5'- TCATCCTGAAACTAGTGAGAAATGAG -3'
(R):5'- TTTGAGCAGAGCCCATGACCTAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation