Incidental Mutation 'IGL01733:Ces1f'
| ID |
105574 |
| 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 # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93996642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 217
(I217T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
[ENSMUST00000140026]
|
| AlphaFold |
Q91WU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034178
AA Change: I217T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: I217T
| 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: ENSMUST00000124066
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151261
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
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 |
|
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 |
|
|
IGL03124:Ces1f
|
APN |
8 |
94,002,012 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation