Incidental Mutation 'IGL00160:Ces2f'
| ID |
1372 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces2f
|
| Ensembl Gene |
ENSMUSG00000062826 |
| Gene Name |
carboxylesterase 2F |
| Synonyms |
2310038E17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105673988-105686679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105676605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 100
(N100Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076384]
[ENSMUST00000212820]
[ENSMUST00000212926]
|
| AlphaFold |
Q08ED5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076384
AA Change: N100Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: N100Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
12 |
540 |
2.7e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
145 |
261 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212820
AA Change: N100Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212926
AA Change: N100Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit epidermal and follicular hyperkeratosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
| Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
| Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
| Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,893,189 (GRCm39) |
D322G |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
| Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
| N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
| Snrnp70 |
A |
G |
7: 45,026,778 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
| Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
T |
C |
2: 21,217,260 (GRCm39) |
F338S |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
| Usp46 |
T |
C |
5: 74,163,347 (GRCm39) |
E333G |
probably null |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
| Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
| Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
| Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,039 (GRCm39) |
H108R |
probably damaging |
Het |
|
| Other mutations in Ces2f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Ces2f
|
APN |
8 |
105,676,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01680:Ces2f
|
APN |
8 |
105,680,705 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01683:Ces2f
|
APN |
8 |
105,679,733 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02685:Ces2f
|
APN |
8 |
105,679,730 (GRCm39) |
nonsense |
probably null |
|
|
R0545:Ces2f
|
UTSW |
8 |
105,676,668 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0707:Ces2f
|
UTSW |
8 |
105,677,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1170:Ces2f
|
UTSW |
8 |
105,680,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1476:Ces2f
|
UTSW |
8 |
105,679,134 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4105:Ces2f
|
UTSW |
8 |
105,677,824 (GRCm39) |
splice site |
probably null |
|
|
R4394:Ces2f
|
UTSW |
8 |
105,677,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Ces2f
|
UTSW |
8 |
105,679,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Ces2f
|
UTSW |
8 |
105,676,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4986:Ces2f
|
UTSW |
8 |
105,678,657 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5502:Ces2f
|
UTSW |
8 |
105,679,155 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6610:Ces2f
|
UTSW |
8 |
105,676,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7078:Ces2f
|
UTSW |
8 |
105,681,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7357:Ces2f
|
UTSW |
8 |
105,676,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7480:Ces2f
|
UTSW |
8 |
105,681,338 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7497:Ces2f
|
UTSW |
8 |
105,681,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8403:Ces2f
|
UTSW |
8 |
105,674,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8558:Ces2f
|
UTSW |
8 |
105,679,758 (GRCm39) |
nonsense |
probably null |
|
|
R8826:Ces2f
|
UTSW |
8 |
105,679,734 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8869:Ces2f
|
UTSW |
8 |
105,676,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Ces2f
|
UTSW |
8 |
105,677,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Ces2f
|
UTSW |
8 |
105,679,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9000:Ces2f
|
UTSW |
8 |
105,677,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9057:Ces2f
|
UTSW |
8 |
105,674,744 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9505:Ces2f
|
UTSW |
8 |
105,676,669 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9723:Ces2f
|
UTSW |
8 |
105,677,463 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9765:Ces2f
|
UTSW |
8 |
105,676,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces2f
|
UTSW |
8 |
105,674,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-07-12 |
Incidental Mutation