Incidental Mutation 'R9048:Ces1f'
| ID |
688184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1f
|
| Ensembl Gene |
ENSMUSG00000031725 |
| Gene Name |
carboxylesterase 1F |
| Synonyms |
CesML1, TGH-2 |
| MMRRC Submission |
068874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R9048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93989695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 407
(D407G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
|
| AlphaFold |
Q91WU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034178
AA Change: D407G
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: D407G
| 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: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
| Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
| Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
| Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
| Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
| Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
| Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
| Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
| Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
| Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
| Podn |
G |
C |
4: 107,878,596 (GRCm39) |
R424G |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
| Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,427,530 (GRCm39) |
N250D |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,032,620 (GRCm39) |
D1188G |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
| Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
| Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
| Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
probably null |
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 |
|
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'- TCTGTCTATCCTAGGGAGTATGC -3'
(R):5'- GCCACTGGCTGAGAAATACAG -3'
Sequencing Primer
(F):5'- TATGCAGGTTAGAGGCCATAGC -3'
(R):5'- CACTGGCTGAGAAATACAGATGTTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation