Incidental Mutation 'R5550:Ces2b'
| ID |
435089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| MMRRC Submission |
043107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R5550 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105565069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 551
(D551G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059449]
[ENSMUST00000163042]
|
| AlphaFold |
Q6PDB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059449
AA Change: D551G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: D551G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
| Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
| Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
| Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
| Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
| Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
| Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
| Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
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 |
|
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 |
|
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'- TGTGATATATCCACAGGAACCC -3'
(R):5'- GGGCTTACACATCCACAGTG -3'
Sequencing Primer
(F):5'- CCAACAGCGAGGGTCTAC -3'
(R):5'- GGCTTACACATCCACAGTGTAATTTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation