Incidental Mutation 'R4986:Ces2f'
| ID |
385879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2f
|
| Ensembl Gene |
ENSMUSG00000062826 |
| Gene Name |
carboxylesterase 2F |
| Synonyms |
2310038E17Rik |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105673988-105686679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105678657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 298
(S298N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076384]
[ENSMUST00000212820]
[ENSMUST00000212926]
|
| AlphaFold |
Q08ED5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076384
AA Change: S298N
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: S298N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
12 |
540 |
2.7e-167 |
PFAM |
|
Pfam:Abhydrolase_3
|
145 |
261 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212820
AA Change: S298N
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212926
AA Change: S167N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit epidermal and follicular hyperkeratosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
probably benign |
Het |
|
| Other mutations in Ces2f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Ces2f
|
APN |
8 |
105,676,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00160:Ces2f
|
APN |
8 |
105,676,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01680:Ces2f
|
APN |
8 |
105,680,705 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01683:Ces2f
|
APN |
8 |
105,679,733 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02685:Ces2f
|
APN |
8 |
105,679,730 (GRCm39) |
nonsense |
probably null |
|
|
R0545:Ces2f
|
UTSW |
8 |
105,676,668 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0707:Ces2f
|
UTSW |
8 |
105,677,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1170:Ces2f
|
UTSW |
8 |
105,680,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1476:Ces2f
|
UTSW |
8 |
105,679,134 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4105:Ces2f
|
UTSW |
8 |
105,677,824 (GRCm39) |
splice site |
probably null |
|
|
R4394:Ces2f
|
UTSW |
8 |
105,677,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Ces2f
|
UTSW |
8 |
105,679,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Ces2f
|
UTSW |
8 |
105,676,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Ces2f
|
UTSW |
8 |
105,679,155 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6610:Ces2f
|
UTSW |
8 |
105,676,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7078:Ces2f
|
UTSW |
8 |
105,681,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7357:Ces2f
|
UTSW |
8 |
105,676,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7480:Ces2f
|
UTSW |
8 |
105,681,338 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7497:Ces2f
|
UTSW |
8 |
105,681,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8403:Ces2f
|
UTSW |
8 |
105,674,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8558:Ces2f
|
UTSW |
8 |
105,679,758 (GRCm39) |
nonsense |
probably null |
|
|
R8826:Ces2f
|
UTSW |
8 |
105,679,734 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8869:Ces2f
|
UTSW |
8 |
105,676,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Ces2f
|
UTSW |
8 |
105,677,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Ces2f
|
UTSW |
8 |
105,679,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9000:Ces2f
|
UTSW |
8 |
105,677,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9057:Ces2f
|
UTSW |
8 |
105,674,744 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9505:Ces2f
|
UTSW |
8 |
105,676,669 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9723:Ces2f
|
UTSW |
8 |
105,677,463 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9765:Ces2f
|
UTSW |
8 |
105,676,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces2f
|
UTSW |
8 |
105,674,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGCTGTCAACTCTGAGCAAC -3'
(R):5'- ACTCTATGAGGCAAGCTGC -3'
Sequencing Primer
(F):5'- TCAACTCTGAGCAACAGGAAAATAG -3'
(R):5'- GCAAGCTGCACCTTTCATTTTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation