Incidental Mutation 'R6720:Ces2b'
| ID |
529542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2b
|
| Ensembl Gene |
ENSMUSG00000050097 |
| Gene Name |
carboxyesterase 2B |
| Synonyms |
|
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
104831572-104840093 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104836869 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 409
(E409D)
|
| 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: E409D
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063005
Gene: ENSMUSG00000050097
AA Change: E409D
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,454,686 (GRCm38) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm38) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,101,222 (GRCm38) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,924,890 (GRCm38) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,794,609 (GRCm38) |
T414S |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,821,119 (GRCm38) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,678,548 (GRCm38) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,618,516 (GRCm38) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm38) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,736,789 (GRCm38) |
S392P |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 195,155,200 (GRCm38) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,000,689 (GRCm38) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,646 (GRCm38) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,102,959 (GRCm38) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,140,264 (GRCm38) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,838,623 (GRCm38) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 138,175,832 (GRCm38) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,657,502 (GRCm38) |
D866G |
probably damaging |
Het |
| Fam129b |
T |
A |
2: 32,905,826 (GRCm38) |
V22D |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,472,497 (GRCm38) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,932,720 (GRCm38) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 83,013,832 (GRCm38) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,807,576 (GRCm38) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,802,304 (GRCm38) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,442,678 (GRCm38) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,877,135 (GRCm38) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,307,381 (GRCm38) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,164,284 (GRCm38) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,366,987 (GRCm38) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,554,347 (GRCm38) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,578,506 (GRCm38) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,058,610 (GRCm38) |
S708R |
probably damaging |
Het |
| Lman1l |
A |
G |
9: 57,614,072 (GRCm38) |
|
probably null |
Het |
| Mmp15 |
A |
G |
8: 95,365,314 (GRCm38) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,423,077 (GRCm38) |
M1140V |
probably benign |
Het |
| Olfr1053 |
A |
G |
2: 86,315,065 (GRCm38) |
S74P |
probably damaging |
Het |
| Olfr1373 |
A |
G |
11: 52,144,693 (GRCm38) |
V279A |
probably benign |
Het |
| Olfr397 |
A |
G |
11: 73,965,465 (GRCm38) |
N286D |
probably damaging |
Het |
| Olfr890 |
T |
A |
9: 38,143,153 (GRCm38) |
M1K |
probably null |
Het |
| Pard3b |
A |
T |
1: 62,159,470 (GRCm38) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,297,979 (GRCm38) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 36,998,069 (GRCm38) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 94,041,389 (GRCm38) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,326,052 (GRCm38) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,540,886 (GRCm38) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,994,062 (GRCm38) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,030,108 (GRCm38) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,573,710 (GRCm38) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,071,432 (GRCm38) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,536,927 (GRCm38) |
V165D |
possibly damaging |
Het |
|
| Other mutations in Ces2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Ces2b
|
APN |
8 |
104,834,604 (GRCm38) |
splice site |
probably benign |
|
|
IGL01905:Ces2b
|
APN |
8 |
104,833,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02528:Ces2b
|
APN |
8 |
104,834,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02659:Ces2b
|
APN |
8 |
104,832,570 (GRCm38) |
splice site |
probably benign |
|
|
IGL02885:Ces2b
|
APN |
8 |
104,834,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Ces2b
|
UTSW |
8 |
104,836,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0092:Ces2b
|
UTSW |
8 |
104,836,512 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0403:Ces2b
|
UTSW |
8 |
104,833,945 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0600:Ces2b
|
UTSW |
8 |
104,835,910 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0637:Ces2b
|
UTSW |
8 |
104,834,605 (GRCm38) |
splice site |
probably benign |
|
|
R1574:Ces2b
|
UTSW |
8 |
104,835,889 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1574:Ces2b
|
UTSW |
8 |
104,835,889 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3036:Ces2b
|
UTSW |
8 |
104,834,626 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3086:Ces2b
|
UTSW |
8 |
104,832,769 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4761:Ces2b
|
UTSW |
8 |
104,836,561 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4920:Ces2b
|
UTSW |
8 |
104,836,906 (GRCm38) |
missense |
probably benign |
|
|
R4937:Ces2b
|
UTSW |
8 |
104,832,781 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5211:Ces2b
|
UTSW |
8 |
104,835,063 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5550:Ces2b
|
UTSW |
8 |
104,838,437 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5790:Ces2b
|
UTSW |
8 |
104,833,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6403:Ces2b
|
UTSW |
8 |
104,836,269 (GRCm38) |
nonsense |
probably null |
|
|
R6692:Ces2b
|
UTSW |
8 |
104,837,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6899:Ces2b
|
UTSW |
8 |
104,836,766 (GRCm38) |
splice site |
probably null |
|
|
R7148:Ces2b
|
UTSW |
8 |
104,838,296 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7270:Ces2b
|
UTSW |
8 |
104,837,840 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7571:Ces2b
|
UTSW |
8 |
104,835,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7626:Ces2b
|
UTSW |
8 |
104,837,385 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7841:Ces2b
|
UTSW |
8 |
104,835,060 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7892:Ces2b
|
UTSW |
8 |
104,832,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8029:Ces2b
|
UTSW |
8 |
104,834,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8293:Ces2b
|
UTSW |
8 |
104,832,626 (GRCm38) |
missense |
unknown |
|
|
R8296:Ces2b
|
UTSW |
8 |
104,836,480 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8721:Ces2b
|
UTSW |
8 |
104,833,895 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9100:Ces2b
|
UTSW |
8 |
104,831,589 (GRCm38) |
unclassified |
probably benign |
|
|
R9361:Ces2b
|
UTSW |
8 |
104,837,407 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9461:Ces2b
|
UTSW |
8 |
104,837,379 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9477:Ces2b
|
UTSW |
8 |
104,833,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0027:Ces2b
|
UTSW |
8 |
104,833,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces2b
|
UTSW |
8 |
104,832,595 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTTACCTCAGATCGTGAAC -3'
(R):5'- TGGAGTATCAGCAACCCATTTTC -3'
Sequencing Primer
(F):5'- AGATCGTGAACCTTTTTGCCTATAC -3'
(R):5'- GAGTATCAGCAACCCATTTTCTTCTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation