Incidental Mutation 'R9289:Ces1f'
| ID |
704146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1f
|
| Ensembl Gene |
ENSMUSG00000031725 |
| Gene Name |
carboxylesterase 1F |
| Synonyms |
CesML1, TGH-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R9289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93992491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 320
(S320N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
|
| AlphaFold |
Q91WU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034178
AA Change: S320N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: S320N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
2.5e-166 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
244 |
4e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,333 (GRCm39) |
T306I |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,175 (GRCm39) |
I250T |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,334,672 (GRCm39) |
T51A |
probably benign |
Het |
| C1rb |
G |
T |
6: 124,552,272 (GRCm39) |
R330L |
possibly damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
T |
10: 41,607,082 (GRCm39) |
D160E |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,656,936 (GRCm39) |
S3039P |
possibly damaging |
Het |
| Chia1 |
A |
T |
3: 106,022,502 (GRCm39) |
|
probably benign |
Het |
| Chka |
T |
G |
19: 3,935,953 (GRCm39) |
F220V |
possibly damaging |
Het |
| Cmtm2b |
A |
G |
8: 105,048,980 (GRCm39) |
|
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,098,079 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,920,603 (GRCm39) |
T304A |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,189 (GRCm39) |
D164E |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,071,152 (GRCm39) |
K661I |
probably damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,568,681 (GRCm39) |
L1581H |
probably damaging |
Het |
| Fam219a |
C |
A |
4: 41,521,942 (GRCm39) |
G46V |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,490,766 (GRCm39) |
V1028M |
probably damaging |
Het |
| Glb1 |
C |
A |
9: 114,249,558 (GRCm39) |
A129E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,447,608 (GRCm39) |
V1767A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,199 (GRCm39) |
S591T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,885,187 (GRCm39) |
K1023R |
probably benign |
Het |
| Mfng |
C |
A |
15: 78,643,457 (GRCm39) |
S250I |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,796,800 (GRCm39) |
T723A |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,785,534 (GRCm39) |
H299L |
probably benign |
Het |
| Naa40 |
T |
C |
19: 7,211,485 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ncdn |
A |
C |
4: 126,643,903 (GRCm39) |
F306L |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,377,254 (GRCm39) |
C246R |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,168,355 (GRCm39) |
Y945* |
probably null |
Het |
| Or2av9 |
T |
A |
11: 58,380,745 (GRCm39) |
I279L |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2y14 |
C |
T |
11: 49,404,635 (GRCm39) |
P57S |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,816 (GRCm39) |
W28R |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,028,853 (GRCm39) |
D1044E |
|
Het |
| Pgm2l1 |
T |
A |
7: 99,919,629 (GRCm39) |
I575K |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,272,100 (GRCm39) |
I553T |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,130 (GRCm39) |
V2513A |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,593 (GRCm39) |
V983E |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,241,547 (GRCm39) |
S190P |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,716,982 (GRCm39) |
E163G |
probably benign |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,060 (GRCm39) |
H44R |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,792 (GRCm39) |
C513* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,998,257 (GRCm39) |
K379E |
probably damaging |
Het |
| Slc52a2 |
G |
T |
15: 76,424,475 (GRCm39) |
V238L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,639 (GRCm39) |
H3171R |
possibly damaging |
Het |
| Tada3 |
A |
G |
6: 113,347,264 (GRCm39) |
V342A |
possibly damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,262 (GRCm39) |
V264A |
probably damaging |
Het |
| Tmco5 |
G |
A |
2: 116,710,745 (GRCm39) |
A22T |
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,975,697 (GRCm39) |
F549S |
probably benign |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,086 (GRCm39) |
F54S |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,736,281 (GRCm39) |
K5* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,381,367 (GRCm39) |
I139T |
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,878 (GRCm39) |
V711D |
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 |
|
|
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 |
|
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'- CAATGGGAATAGCTGCACCAGAC -3'
(R):5'- CAAAAGTTTGGTCTCTGTGGC -3'
Sequencing Primer
(F):5'- CAGGGCTTAAAGACAGAATTCATG -3'
(R):5'- GCTCACAGGCCTTCTAAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation