Incidental Mutation 'R0577:Fbxw17'
| ID |
56271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw17
|
| Ensembl Gene |
ENSMUSG00000037816 |
| Gene Name |
F-box and WD-40 domain protein 17 |
| Synonyms |
1110064L07Rik |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
110 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
50571900-50587816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50585619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 274
(L274P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046974]
[ENSMUST00000176479]
[ENSMUST00000176543]
[ENSMUST00000176772]
|
| AlphaFold |
Q8CFE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046974
AA Change: L274P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041750
Gene: ENSMUSG00000037816
AA Change: L274P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
3 |
47 |
1.4e-6 |
PFAM |
|
Pfam:F-box-like
|
4 |
48 |
6.7e-12 |
PFAM |
|
WD40
|
85 |
133 |
9.94e-1 |
SMART |
|
Blast:WD40
|
136 |
175 |
6e-12 |
BLAST |
|
WD40
|
369 |
408 |
1.07e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176424
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176470
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176772
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
| Other mutations in Fbxw17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Fbxw17
|
APN |
13 |
50,577,336 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02477:Fbxw17
|
APN |
13 |
50,577,853 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0364:Fbxw17
|
UTSW |
13 |
50,586,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1709:Fbxw17
|
UTSW |
13 |
50,585,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1791:Fbxw17
|
UTSW |
13 |
50,579,810 (GRCm39) |
unclassified |
probably benign |
|
|
R4811:Fbxw17
|
UTSW |
13 |
50,579,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5013:Fbxw17
|
UTSW |
13 |
50,586,506 (GRCm39) |
missense |
probably benign |
|
|
R5153:Fbxw17
|
UTSW |
13 |
50,573,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Fbxw17
|
UTSW |
13 |
50,586,390 (GRCm39) |
intron |
probably benign |
|
|
R5475:Fbxw17
|
UTSW |
13 |
50,579,684 (GRCm39) |
missense |
probably benign |
|
|
R6146:Fbxw17
|
UTSW |
13 |
50,586,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6294:Fbxw17
|
UTSW |
13 |
50,577,839 (GRCm39) |
missense |
probably benign |
|
|
R6644:Fbxw17
|
UTSW |
13 |
50,577,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Fbxw17
|
UTSW |
13 |
50,587,300 (GRCm39) |
splice site |
probably null |
|
|
R7007:Fbxw17
|
UTSW |
13 |
50,577,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Fbxw17
|
UTSW |
13 |
50,586,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Fbxw17
|
UTSW |
13 |
50,587,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Fbxw17
|
UTSW |
13 |
50,579,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Fbxw17
|
UTSW |
13 |
50,579,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Fbxw17
|
UTSW |
13 |
50,587,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8820:Fbxw17
|
UTSW |
13 |
50,587,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8872:Fbxw17
|
UTSW |
13 |
50,586,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9222:Fbxw17
|
UTSW |
13 |
50,577,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9308:Fbxw17
|
UTSW |
13 |
50,572,004 (GRCm39) |
missense |
probably benign |
|
|
R9558:Fbxw17
|
UTSW |
13 |
50,577,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Fbxw17
|
UTSW |
13 |
50,579,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Fbxw17
|
UTSW |
13 |
50,579,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATTGCATTATGTGGGCAGCCAG -3'
(R):5'- CCGGTACATGAAACATGCAGCAAAG -3'
Sequencing Primer
(F):5'- GCTGTCCAGGCAGTCCTAC -3'
(R):5'- ACAGCAGTGTCCTGAAGTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation