Incidental Mutation 'IGL03124:Ces1f'
ID |
410092 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces1f
|
Ensembl Gene |
ENSMUSG00000031725 |
Gene Name |
carboxylesterase 1F |
Synonyms |
CesML1, TGH-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL03124
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94002012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 39
(N39D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
[ENSMUST00000140026]
|
AlphaFold |
Q91WU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034178
AA Change: N39D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034178 Gene: ENSMUSG00000031725 AA Change: N39D
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
545 |
2.5e-166 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
244 |
4e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140026
|
SMART Domains |
Protein: ENSMUSP00000116525 Gene: ENSMUSG00000031725
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
C |
A |
8: 122,268,449 (GRCm39) |
|
probably benign |
Het |
4931414P19Rik |
A |
G |
14: 54,832,596 (GRCm39) |
V193A |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,989,490 (GRCm39) |
S645P |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,655,401 (GRCm39) |
I3316V |
probably benign |
Het |
Apc |
T |
G |
18: 34,433,038 (GRCm39) |
H424Q |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,202,537 (GRCm39) |
|
probably null |
Het |
Car13 |
C |
T |
3: 14,722,000 (GRCm39) |
P182L |
possibly damaging |
Het |
Ccdc87 |
T |
G |
19: 4,891,082 (GRCm39) |
S525A |
probably damaging |
Het |
Cyp2j13 |
C |
A |
4: 95,950,159 (GRCm39) |
A281S |
possibly damaging |
Het |
Cyp4f15 |
G |
A |
17: 32,904,786 (GRCm39) |
|
probably null |
Het |
Fat4 |
C |
A |
3: 39,035,701 (GRCm39) |
R3118S |
possibly damaging |
Het |
Glg1 |
C |
T |
8: 111,926,803 (GRCm39) |
V171M |
probably damaging |
Het |
Hivep1 |
G |
T |
13: 42,312,380 (GRCm39) |
G1540V |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,385,258 (GRCm39) |
D234G |
unknown |
Het |
Igsf10 |
T |
C |
3: 59,227,086 (GRCm39) |
T2196A |
probably benign |
Het |
Kctd19 |
T |
A |
8: 106,113,702 (GRCm39) |
Q657L |
possibly damaging |
Het |
Klhl40 |
T |
A |
9: 121,609,751 (GRCm39) |
I512N |
probably damaging |
Het |
Lima1 |
A |
T |
15: 99,694,615 (GRCm39) |
|
probably benign |
Het |
Map2k4 |
A |
C |
11: 65,581,617 (GRCm39) |
I365S |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,874,753 (GRCm39) |
K1346N |
probably damaging |
Het |
Met |
T |
A |
6: 17,492,077 (GRCm39) |
F280I |
probably benign |
Het |
Ncapg |
A |
G |
5: 45,828,551 (GRCm39) |
T101A |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,886,452 (GRCm39) |
F605L |
probably benign |
Het |
Odr4 |
A |
G |
1: 150,262,176 (GRCm39) |
V88A |
probably benign |
Het |
Or51k1 |
G |
T |
7: 103,661,001 (GRCm39) |
Q303K |
probably benign |
Het |
Or5ae2 |
T |
A |
7: 84,505,931 (GRCm39) |
M118K |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,212,459 (GRCm39) |
M322K |
probably benign |
Het |
Pck2 |
C |
T |
14: 55,782,790 (GRCm39) |
T373I |
probably damaging |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pecr |
A |
C |
1: 72,316,499 (GRCm39) |
S69A |
probably benign |
Het |
Pgap6 |
G |
A |
17: 26,335,808 (GRCm39) |
R65Q |
probably damaging |
Het |
Pitpnb |
A |
G |
5: 111,478,696 (GRCm39) |
E6G |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Plbd2 |
A |
T |
5: 120,631,142 (GRCm39) |
F212I |
possibly damaging |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scp2 |
T |
A |
4: 107,921,103 (GRCm39) |
I36F |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,895 (GRCm39) |
T74A |
probably damaging |
Het |
Spmip6 |
T |
C |
4: 41,507,287 (GRCm39) |
N170D |
possibly damaging |
Het |
St6galnac1 |
G |
A |
11: 116,666,125 (GRCm39) |
A35V |
probably benign |
Het |
Tasor2 |
A |
T |
13: 3,624,704 (GRCm39) |
Y1749N |
probably benign |
Het |
Trav17 |
T |
C |
14: 54,044,106 (GRCm39) |
V4A |
probably benign |
Het |
Vmn1r57 |
A |
T |
7: 5,224,021 (GRCm39) |
H182L |
possibly damaging |
Het |
Vwa8 |
A |
T |
14: 79,296,255 (GRCm39) |
|
probably benign |
Het |
Zgpat |
A |
G |
2: 181,007,973 (GRCm39) |
Y170C |
probably benign |
Het |
|
Other mutations in Ces1f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Ces1f
|
APN |
8 |
93,994,620 (GRCm39) |
missense |
probably benign |
|
IGL01143:Ces1f
|
APN |
8 |
93,998,458 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01571:Ces1f
|
APN |
8 |
93,984,996 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01731:Ces1f
|
APN |
8 |
93,993,948 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01733:Ces1f
|
APN |
8 |
93,996,642 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02124:Ces1f
|
APN |
8 |
93,992,488 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL03058:Ces1f
|
APN |
8 |
93,996,600 (GRCm39) |
critical splice donor site |
probably null |
|
3-1:Ces1f
|
UTSW |
8 |
94,002,059 (GRCm39) |
missense |
probably benign |
0.29 |
G5030:Ces1f
|
UTSW |
8 |
94,000,847 (GRCm39) |
missense |
probably benign |
0.03 |
R0025:Ces1f
|
UTSW |
8 |
93,998,513 (GRCm39) |
missense |
probably benign |
0.27 |
R0025:Ces1f
|
UTSW |
8 |
93,998,513 (GRCm39) |
missense |
probably benign |
0.27 |
R0113:Ces1f
|
UTSW |
8 |
94,006,327 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R0201:Ces1f
|
UTSW |
8 |
93,993,957 (GRCm39) |
missense |
probably null |
0.01 |
R0306:Ces1f
|
UTSW |
8 |
94,003,172 (GRCm39) |
splice site |
probably benign |
|
R0317:Ces1f
|
UTSW |
8 |
93,990,019 (GRCm39) |
missense |
probably benign |
0.05 |
R0558:Ces1f
|
UTSW |
8 |
94,002,017 (GRCm39) |
missense |
probably benign |
|
R0791:Ces1f
|
UTSW |
8 |
93,998,517 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0833:Ces1f
|
UTSW |
8 |
93,996,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R0836:Ces1f
|
UTSW |
8 |
93,996,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R1087:Ces1f
|
UTSW |
8 |
93,984,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Ces1f
|
UTSW |
8 |
93,993,870 (GRCm39) |
splice site |
probably benign |
|
R1147:Ces1f
|
UTSW |
8 |
93,984,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1147:Ces1f
|
UTSW |
8 |
93,984,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1183:Ces1f
|
UTSW |
8 |
93,994,633 (GRCm39) |
missense |
probably benign |
0.01 |
R1371:Ces1f
|
UTSW |
8 |
94,006,277 (GRCm39) |
missense |
probably damaging |
0.98 |
R1480:Ces1f
|
UTSW |
8 |
94,000,782 (GRCm39) |
missense |
probably benign |
0.07 |
R1522:Ces1f
|
UTSW |
8 |
93,998,517 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1681:Ces1f
|
UTSW |
8 |
94,002,042 (GRCm39) |
missense |
probably benign |
0.00 |
R1865:Ces1f
|
UTSW |
8 |
94,000,893 (GRCm39) |
splice site |
probably benign |
|
R2437:Ces1f
|
UTSW |
8 |
93,996,767 (GRCm39) |
splice site |
probably null |
|
R3038:Ces1f
|
UTSW |
8 |
93,983,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4199:Ces1f
|
UTSW |
8 |
93,983,517 (GRCm39) |
missense |
probably benign |
0.00 |
R4406:Ces1f
|
UTSW |
8 |
93,989,950 (GRCm39) |
missense |
probably benign |
|
R5385:Ces1f
|
UTSW |
8 |
93,992,388 (GRCm39) |
nonsense |
probably null |
|
R5450:Ces1f
|
UTSW |
8 |
93,992,423 (GRCm39) |
missense |
probably benign |
0.04 |
R5627:Ces1f
|
UTSW |
8 |
94,006,327 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R6182:Ces1f
|
UTSW |
8 |
93,983,124 (GRCm39) |
missense |
probably benign |
0.43 |
R6256:Ces1f
|
UTSW |
8 |
93,992,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6379:Ces1f
|
UTSW |
8 |
94,006,279 (GRCm39) |
missense |
probably benign |
|
R6443:Ces1f
|
UTSW |
8 |
94,001,993 (GRCm39) |
missense |
probably benign |
0.00 |
R6967:Ces1f
|
UTSW |
8 |
93,994,625 (GRCm39) |
missense |
probably benign |
0.00 |
R7158:Ces1f
|
UTSW |
8 |
93,994,644 (GRCm39) |
missense |
probably benign |
0.00 |
R7323:Ces1f
|
UTSW |
8 |
93,998,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Ces1f
|
UTSW |
8 |
93,998,562 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Ces1f
|
UTSW |
8 |
93,983,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Ces1f
|
UTSW |
8 |
93,984,938 (GRCm39) |
missense |
probably benign |
0.00 |
R7864:Ces1f
|
UTSW |
8 |
94,000,769 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7999:Ces1f
|
UTSW |
8 |
93,989,623 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9048:Ces1f
|
UTSW |
8 |
93,989,695 (GRCm39) |
missense |
probably benign |
0.32 |
R9289:Ces1f
|
UTSW |
8 |
93,992,491 (GRCm39) |
missense |
probably benign |
0.06 |
R9389:Ces1f
|
UTSW |
8 |
93,996,600 (GRCm39) |
critical splice donor site |
probably null |
|
R9598:Ces1f
|
UTSW |
8 |
93,983,494 (GRCm39) |
missense |
probably benign |
0.27 |
R9745:Ces1f
|
UTSW |
8 |
93,989,740 (GRCm39) |
missense |
probably benign |
0.18 |
X0026:Ces1f
|
UTSW |
8 |
93,996,684 (GRCm39) |
missense |
probably benign |
0.12 |
|
Posted On |
2016-08-02 |