Incidental Mutation 'IGL02885:Ces2b'
ID |
362953 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces2b
|
Ensembl Gene |
ENSMUSG00000050097 |
Gene Name |
carboxyesterase 2B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL02885
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
105558204-105566725 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105561563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 219
(V219A)
|
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: V219A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063005 Gene: ENSMUSG00000050097 AA Change: V219A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,948,152 (GRCm39) |
N683S |
probably benign |
Het |
Ahi1 |
T |
A |
10: 20,931,012 (GRCm39) |
F46I |
possibly damaging |
Het |
Als2 |
C |
T |
1: 59,206,650 (GRCm39) |
V1598I |
probably benign |
Het |
Arid1b |
A |
T |
17: 5,392,428 (GRCm39) |
D1986V |
probably damaging |
Het |
Bhlhe41 |
T |
A |
6: 145,810,989 (GRCm39) |
D2V |
probably damaging |
Het |
Borcs6 |
A |
G |
11: 68,951,072 (GRCm39) |
D150G |
possibly damaging |
Het |
Ccdc88a |
G |
T |
11: 29,398,050 (GRCm39) |
R261L |
probably damaging |
Het |
Ccne2 |
T |
A |
4: 11,198,723 (GRCm39) |
|
probably benign |
Het |
Cenpk |
A |
G |
13: 104,385,903 (GRCm39) |
D266G |
probably damaging |
Het |
Cpa1 |
A |
G |
6: 30,645,169 (GRCm39) |
R382G |
probably damaging |
Het |
Cplx4 |
G |
T |
18: 66,089,984 (GRCm39) |
T145N |
probably damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,079,102 (GRCm39) |
I269V |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,440,545 (GRCm39) |
Y1192C |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,923,471 (GRCm39) |
Y694H |
probably damaging |
Het |
Eea1 |
C |
A |
10: 95,877,346 (GRCm39) |
N1353K |
probably benign |
Het |
Fam111a |
T |
A |
19: 12,561,488 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,442,204 (GRCm39) |
S1169P |
probably benign |
Het |
Frk |
G |
T |
10: 34,360,067 (GRCm39) |
A23S |
probably benign |
Het |
Fyb2 |
T |
C |
4: 104,861,118 (GRCm39) |
V594A |
probably damaging |
Het |
Gtpbp3 |
C |
A |
8: 71,942,064 (GRCm39) |
|
probably benign |
Het |
Hoxa5 |
G |
T |
6: 52,179,688 (GRCm39) |
A229D |
probably damaging |
Het |
Ift25 |
G |
A |
4: 107,130,866 (GRCm39) |
C52Y |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,913,007 (GRCm39) |
F1780L |
possibly damaging |
Het |
Jade2 |
A |
T |
11: 51,722,123 (GRCm39) |
D143E |
probably damaging |
Het |
Kdm1a |
T |
C |
4: 136,279,846 (GRCm39) |
I719V |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lmx1b |
G |
T |
2: 33,457,216 (GRCm39) |
Q206K |
probably benign |
Het |
Lrrtm4 |
G |
A |
6: 79,998,786 (GRCm39) |
G66D |
probably damaging |
Het |
Myg1 |
G |
T |
15: 102,240,594 (GRCm39) |
G90C |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,539,407 (GRCm39) |
V2785I |
probably benign |
Het |
Ncr1 |
C |
A |
7: 4,341,225 (GRCm39) |
P35Q |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,033,855 (GRCm39) |
C326S |
probably damaging |
Het |
Or12j2 |
T |
C |
7: 139,916,072 (GRCm39) |
F99S |
possibly damaging |
Het |
Or3a1 |
G |
T |
11: 74,225,519 (GRCm39) |
H179Q |
possibly damaging |
Het |
Or52r1 |
A |
T |
7: 102,537,243 (GRCm39) |
V39E |
possibly damaging |
Het |
Pde4d |
A |
G |
13: 110,084,795 (GRCm39) |
Y520C |
probably damaging |
Het |
Ppm1d |
A |
G |
11: 85,217,770 (GRCm39) |
M178V |
possibly damaging |
Het |
Samd3 |
G |
A |
10: 26,147,762 (GRCm39) |
R479K |
probably benign |
Het |
Semp2l2b |
T |
A |
10: 21,943,057 (GRCm39) |
I308F |
possibly damaging |
Het |
Serpinb6a |
A |
G |
13: 34,102,782 (GRCm39) |
V226A |
probably benign |
Het |
Slc26a4 |
T |
C |
12: 31,575,475 (GRCm39) |
E737G |
probably benign |
Het |
Slc34a3 |
A |
G |
2: 25,121,069 (GRCm39) |
C340R |
probably damaging |
Het |
Spata31d1b |
C |
A |
13: 59,866,941 (GRCm39) |
|
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,013 (GRCm39) |
V173A |
probably benign |
Het |
Vmn2r66 |
A |
T |
7: 84,644,723 (GRCm39) |
D562E |
probably benign |
Het |
Zfp395 |
C |
T |
14: 65,633,344 (GRCm39) |
P451L |
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 |
|
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 |
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 |
|
|
Posted On |
2015-12-18 |