Incidental Mutation 'IGL03058:Ces1f'
ID |
409353 |
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 # |
IGL03058
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 93996600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
[ENSMUST00000140026]
|
AlphaFold |
Q91WU0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034178
|
SMART Domains |
Protein: ENSMUSP00000034178 Gene: ENSMUSG00000031725
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
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 |
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 |
2016-08-02 |