Incidental Mutation 'R3909:Fbxl17'
ID |
309319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl17
|
Ensembl Gene |
ENSMUSG00000023965 |
Gene Name |
F-box and leucine-rich repeat protein 17 |
Synonyms |
6330576B01Rik, C130023C01Rik, Fbxo13, Fbx13 |
MMRRC Submission |
040814-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.821)
|
Stock # |
R3909 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 63806802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 71
(P71S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
|
AlphaFold |
Q9QZN1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024761
AA Change: P71S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000024761 Gene: ENSMUSG00000023965 AA Change: P71S
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
low complexity region
|
103 |
138 |
N/A |
INTRINSIC |
low complexity region
|
180 |
193 |
N/A |
INTRINSIC |
low complexity region
|
214 |
245 |
N/A |
INTRINSIC |
low complexity region
|
246 |
270 |
N/A |
INTRINSIC |
FBOX
|
324 |
365 |
3.1e-8 |
SMART |
LRR
|
359 |
384 |
4.6e-1 |
SMART |
LRR
|
385 |
410 |
2e-1 |
SMART |
LRR
|
411 |
436 |
8.5e-2 |
SMART |
LRR
|
437 |
462 |
6.9e-4 |
SMART |
LRR
|
463 |
488 |
1.3e-5 |
SMART |
LRR
|
489 |
514 |
5.2e-2 |
SMART |
LRR
|
515 |
539 |
2.9e-3 |
SMART |
LRR
|
540 |
564 |
2e-1 |
SMART |
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
LRR
|
591 |
615 |
8.4e-4 |
SMART |
LRR
|
616 |
641 |
2.2e-1 |
SMART |
LRR
|
642 |
667 |
6.3e-1 |
SMART |
|
Meta Mutation Damage Score |
0.0595 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (35/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,705 (GRCm39) |
D237G |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
Prps1l1 |
A |
T |
12: 35,035,797 (GRCm39) |
H304L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
Het |
|
Other mutations in Fbxl17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01420:Fbxl17
|
APN |
17 |
63,692,047 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02201:Fbxl17
|
APN |
17 |
63,806,024 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02256:Fbxl17
|
APN |
17 |
63,806,085 (GRCm39) |
missense |
probably benign |
|
IGL03408:Fbxl17
|
APN |
17 |
63,387,541 (GRCm39) |
nonsense |
probably null |
|
R0268:Fbxl17
|
UTSW |
17 |
63,692,062 (GRCm39) |
splice site |
probably benign |
|
R0269:Fbxl17
|
UTSW |
17 |
63,691,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R0313:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R0315:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Fbxl17
|
UTSW |
17 |
63,692,062 (GRCm39) |
splice site |
probably benign |
|
R0356:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R0553:Fbxl17
|
UTSW |
17 |
63,663,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Fbxl17
|
UTSW |
17 |
63,691,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R0629:Fbxl17
|
UTSW |
17 |
63,778,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Fbxl17
|
UTSW |
17 |
63,794,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Fbxl17
|
UTSW |
17 |
63,692,060 (GRCm39) |
splice site |
probably null |
|
R3001:Fbxl17
|
UTSW |
17 |
63,532,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R3002:Fbxl17
|
UTSW |
17 |
63,532,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R3121:Fbxl17
|
UTSW |
17 |
63,778,419 (GRCm39) |
missense |
probably damaging |
0.96 |
R4789:Fbxl17
|
UTSW |
17 |
63,794,910 (GRCm39) |
missense |
probably benign |
0.40 |
R6606:Fbxl17
|
UTSW |
17 |
63,794,783 (GRCm39) |
missense |
probably damaging |
0.97 |
R7153:Fbxl17
|
UTSW |
17 |
63,367,346 (GRCm39) |
missense |
probably benign |
0.09 |
R7722:Fbxl17
|
UTSW |
17 |
63,663,823 (GRCm39) |
missense |
probably damaging |
0.99 |
R7794:Fbxl17
|
UTSW |
17 |
63,663,806 (GRCm39) |
missense |
probably damaging |
0.97 |
R7841:Fbxl17
|
UTSW |
17 |
63,794,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R8076:Fbxl17
|
UTSW |
17 |
63,367,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R8178:Fbxl17
|
UTSW |
17 |
63,794,967 (GRCm39) |
splice site |
probably null |
|
R8338:Fbxl17
|
UTSW |
17 |
63,663,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8873:Fbxl17
|
UTSW |
17 |
63,691,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R9113:Fbxl17
|
UTSW |
17 |
63,532,085 (GRCm39) |
missense |
probably benign |
0.09 |
R9431:Fbxl17
|
UTSW |
17 |
63,387,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9444:Fbxl17
|
UTSW |
17 |
63,778,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R9581:Fbxl17
|
UTSW |
17 |
63,806,525 (GRCm39) |
missense |
probably benign |
|
R9660:Fbxl17
|
UTSW |
17 |
63,806,426 (GRCm39) |
missense |
probably benign |
0.00 |
R9756:Fbxl17
|
UTSW |
17 |
63,367,310 (GRCm39) |
missense |
probably damaging |
0.98 |
X0019:Fbxl17
|
UTSW |
17 |
63,367,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTTGCAAACCATCTCGAG -3'
(R):5'- ATATGGGCCACCTTCTCTCGAAG -3'
Sequencing Primer
(F):5'- AAACCATCTCGAGGGCCGTG -3'
(R):5'- TCTCGAAGGAGCCGCGTAAC -3'
|
Posted On |
2015-04-17 |