Incidental Mutation 'R1118:Ces1f'
| ID |
97570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1f
|
| Ensembl Gene |
ENSMUSG00000031725 |
| Gene Name |
carboxylesterase 1F |
| Synonyms |
CesML1, TGH-2 |
| MMRRC Submission |
039191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 93993870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
|
| AlphaFold |
Q91WU0 |
| Predicted Effect |
probably benign
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: ENSMUST00000151261
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
A |
G |
18: 63,085,095 (GRCm39) |
T431A |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,896,534 (GRCm39) |
I721F |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,686,643 (GRCm39) |
D58G |
possibly damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,916,248 (GRCm39) |
D575G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,237,698 (GRCm39) |
H938L |
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,468,656 (GRCm39) |
D259G |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,341,053 (GRCm39) |
I2223V |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,397,459 (GRCm39) |
D921G |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,250,849 (GRCm39) |
S325P |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,091 (GRCm39) |
D3581V |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,584 (GRCm39) |
|
probably null |
Het |
| Gap43 |
T |
C |
16: 42,112,167 (GRCm39) |
E198G |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
C |
15: 76,132,779 (GRCm39) |
F182S |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,503,563 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,618,124 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,631,916 (GRCm39) |
S384P |
probably benign |
Het |
| Lbr |
A |
C |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
G |
A |
15: 82,000,068 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,662,969 (GRCm39) |
V462A |
probably benign |
Het |
| Mrgpra3 |
A |
C |
7: 47,239,039 (GRCm39) |
L296V |
possibly damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
| Otud4 |
C |
T |
8: 80,379,980 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,815 (GRCm39) |
F16I |
probably benign |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pdxdc1 |
T |
A |
16: 13,697,278 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,039,828 (GRCm39) |
|
probably null |
Het |
| Phf11a |
T |
C |
14: 59,521,778 (GRCm39) |
D131G |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,858,953 (GRCm39) |
H1446Y |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,563,352 (GRCm39) |
S4P |
probably damaging |
Het |
| Slc52a2 |
T |
C |
15: 76,423,808 (GRCm39) |
|
probably benign |
Het |
| Slc9a4 |
G |
A |
1: 40,623,490 (GRCm39) |
|
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,773,333 (GRCm39) |
D551G |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,436,352 (GRCm39) |
Y1234C |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,721,582 (GRCm39) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Stmn4 |
T |
G |
14: 66,591,844 (GRCm39) |
|
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tex14 |
A |
T |
11: 87,413,343 (GRCm39) |
R1031S |
probably benign |
Het |
| Tia1 |
G |
A |
6: 86,396,091 (GRCm39) |
V96I |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,664,406 (GRCm39) |
M991T |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,217,127 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,853,782 (GRCm39) |
P393S |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,576,860 (GRCm39) |
R286Q |
probably benign |
Het |
| Wdr87-ps |
G |
A |
7: 29,233,669 (GRCm39) |
|
noncoding transcript |
Het |
| Wrap73 |
A |
T |
4: 154,236,884 (GRCm39) |
|
probably null |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGGTGAATCATCTGCTCCTGC -3'
(R):5'- ACTGATGCTGCTCTTGACATCTGTG -3'
Sequencing Primer
(F):5'- GATAGACCTTGACTCTTCAGGAGC -3'
(R):5'- ATTGTTCACTGCATGCGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation