Incidental Mutation 'IGL01683:Ces2f'
| ID |
103867 |
| 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 # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105673988-105686679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105679733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 409
(F409L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076384]
[ENSMUST00000212820]
[ENSMUST00000212926]
|
| AlphaFold |
Q08ED5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076384
AA Change: F409L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: F409L
| 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 benign
Transcript: ENSMUST00000212820
AA Change: F409L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212926
AA Change: F278L
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,850 (GRCm39) |
T164A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,584,112 (GRCm39) |
A499T |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| H2-M2 |
A |
T |
17: 37,792,406 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,952,091 (GRCm39) |
V239D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,260,530 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
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 |
|
IGL00160:Ces2f
|
APN |
8 |
105,676,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01680:Ces2f
|
APN |
8 |
105,680,705 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
2014-01-21 |
Incidental Mutation