Incidental Mutation 'R8403:Ces2f'
| ID |
652276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2f
|
| Ensembl Gene |
ENSMUSG00000062826 |
| Gene Name |
carboxylesterase 2F |
| Synonyms |
2310038E17Rik |
| MMRRC Submission |
067813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105673988-105686679 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105674808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076384]
[ENSMUST00000212820]
[ENSMUST00000212926]
|
| AlphaFold |
Q08ED5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076384
AA Change: V70A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075722
Gene: ENSMUSG00000062826
AA Change: V70A
| 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 |
possibly damaging
Transcript: ENSMUST00000212820
AA Change: V70A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212926
AA Change: V70A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
A |
11: 62,140,141 (GRCm39) |
C72S |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,782 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,494,220 (GRCm39) |
I460N |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,575 (GRCm39) |
S366F |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,327 (GRCm39) |
S223G |
possibly damaging |
Het |
| Ces2c |
T |
A |
8: 105,574,714 (GRCm39) |
V57D |
probably damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,416 (GRCm39) |
P114S |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,483 (GRCm39) |
F666S |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,297 (GRCm39) |
D440V |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,585,718 (GRCm39) |
E107G |
probably damaging |
Het |
| Dop1a |
G |
T |
9: 86,382,925 (GRCm39) |
R286L |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,908 (GRCm39) |
T987I |
probably benign |
Het |
| Fastkd1 |
G |
T |
2: 69,517,425 (GRCm39) |
Y818* |
probably null |
Het |
| Fer1l4 |
A |
C |
2: 155,894,163 (GRCm39) |
F47V |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,275,790 (GRCm39) |
*125R |
probably null |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,959 (GRCm39) |
L209P |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,141,654 (GRCm39) |
D348E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,918 (GRCm39) |
I417N |
|
Het |
| Lmo7 |
T |
C |
14: 102,139,800 (GRCm39) |
S1028P |
probably benign |
Het |
| Lrrc37a |
C |
G |
11: 103,392,411 (GRCm39) |
E1005Q |
probably benign |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,585 (GRCm39) |
I372K |
possibly damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,051,348 (GRCm39) |
D34G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,948 (GRCm39) |
V274D |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,068,279 (GRCm39) |
D496G |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,905,244 (GRCm39) |
V282A |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,266,258 (GRCm39) |
V615I |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,658 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,699,364 (GRCm39) |
I2959T |
possibly damaging |
Het |
| Sema4a |
T |
G |
3: 88,359,341 (GRCm39) |
K117Q |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,139,004 (GRCm39) |
M486T |
possibly damaging |
Het |
| Sntb2 |
T |
A |
8: 107,728,166 (GRCm39) |
C371* |
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,184,044 (GRCm39) |
T529A |
probably benign |
Het |
| Tchp |
G |
T |
5: 114,846,827 (GRCm39) |
R38L |
possibly damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,773,926 (GRCm39) |
V320A |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,646 (GRCm39) |
D187V |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,163 (GRCm39) |
E168G |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,931,985 (GRCm39) |
I5N |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,087,175 (GRCm39) |
G446R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,001,487 (GRCm39) |
V444I |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
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 |
|
R4986:Ces2f
|
UTSW |
8 |
105,678,657 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
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'- GAAATTCCACGACTTACCCAGG -3'
(R):5'- ATGTCCCTCATCACAGGCAGAG -3'
Sequencing Primer
(F):5'- TTACCCAGGCAAGTGATTCCAG -3'
(R):5'- TCATCACAGGCAGAGAACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation