Incidental Mutation 'IGL01731:Ces1f'
| ID |
105475 |
| 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 # |
IGL01731
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93993948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 278
(S278P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
|
| AlphaFold |
Q91WU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034178
AA Change: S278P
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: S278P
| 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: ENSMUST00000151261
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430093F15Rik |
T |
A |
19: 10,762,711 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,199,749 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
G |
A |
7: 45,652,034 (GRCm39) |
P611L |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,241,385 (GRCm39) |
E547G |
probably benign |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,472 (GRCm39) |
F337L |
possibly damaging |
Het |
| Alg1 |
C |
T |
16: 5,062,383 (GRCm39) |
R422C |
probably benign |
Het |
| Ankrd23 |
A |
G |
1: 36,573,147 (GRCm39) |
L75S |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,439 (GRCm39) |
H578R |
probably damaging |
Het |
| Atp10a |
G |
T |
7: 58,447,310 (GRCm39) |
W684L |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,157,647 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
A |
T |
16: 97,671,372 (GRCm39) |
I509K |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,868,057 (GRCm39) |
T864A |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,111 (GRCm39) |
I208V |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,061,738 (GRCm39) |
S425P |
probably benign |
Het |
| Cxcl1 |
A |
G |
5: 91,039,436 (GRCm39) |
T60A |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,919,632 (GRCm39) |
I139V |
probably benign |
Het |
| Exoc3l |
T |
G |
8: 106,019,587 (GRCm39) |
K394T |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,270,293 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
A |
6: 135,188,903 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hectd1 |
C |
A |
12: 51,849,593 (GRCm39) |
D204Y |
possibly damaging |
Het |
| Hephl1 |
A |
T |
9: 14,981,066 (GRCm39) |
Y789N |
probably damaging |
Het |
| Igfbp6 |
C |
A |
15: 102,053,252 (GRCm39) |
N90K |
probably benign |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,462 (GRCm39) |
D226E |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,490,013 (GRCm39) |
Q163L |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,472 (GRCm39) |
I1188T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,298,278 (GRCm39) |
E2252G |
probably benign |
Het |
| Nepn |
G |
T |
10: 52,276,660 (GRCm39) |
R132L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,342 (GRCm39) |
L193* |
probably null |
Het |
| Ntn1 |
A |
G |
11: 68,276,244 (GRCm39) |
S235P |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,061,873 (GRCm39) |
R684L |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,738 (GRCm39) |
D545G |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,293 (GRCm39) |
S154G |
possibly damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,406,282 (GRCm39) |
T285A |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,980 (GRCm39) |
V146A |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,053 (GRCm39) |
T135S |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,682 (GRCm39) |
I194F |
probably benign |
Het |
| Polr3b |
A |
T |
10: 84,467,704 (GRCm39) |
R95* |
probably null |
Het |
| Prelid2 |
C |
T |
18: 42,070,714 (GRCm39) |
V40M |
probably benign |
Het |
| Ptprb |
T |
G |
10: 116,208,781 (GRCm39) |
L2205R |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,551,240 (GRCm39) |
V79A |
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,598,162 (GRCm39) |
I259T |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,189 (GRCm39) |
N162I |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,721 (GRCm39) |
V75A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,757 (GRCm39) |
*852K |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,505 (GRCm39) |
Q69* |
probably null |
Het |
| Zfp865 |
G |
T |
7: 5,032,875 (GRCm39) |
A287S |
probably benign |
Het |
| Zmpste24 |
T |
A |
4: 120,955,081 (GRCm39) |
Q39L |
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 |
|
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 |
|
|
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