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: 0.053)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105563501 bp (GRCm39)
|
| 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: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,771,973 (GRCm39) |
T414S |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,449,134 (GRCm39) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,709,611 (GRCm39) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,097,769 (GRCm39) |
S708R |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
| Or1e1f |
A |
G |
11: 73,856,291 (GRCm39) |
N286D |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
| Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
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 |
|
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'- TGTGGTTACCTCAGATCGTGAAC -3'
(R):5'- TGGAGTATCAGCAACCCATTTTC -3'
Sequencing Primer
(F):5'- AGATCGTGAACCTTTTTGCCTATAC -3'
(R):5'- GAGTATCAGCAACCCATTTTCTTCTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation