Incidental Mutation 'IGL02256:Fbxl17'
| ID |
286600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxl17
|
| Ensembl Gene |
ENSMUSG00000023965 |
| Gene Name |
F-box and leucine-rich repeat protein 17 |
| Synonyms |
6330576B01Rik, C130023C01Rik, Fbxo13, Fbx13 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.821)
|
| Stock # |
IGL02256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 63806085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 310
(C310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
|
| AlphaFold |
Q9QZN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024761
AA Change: C310G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: C310G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
T |
A |
2: 91,599,399 (GRCm39) |
V173E |
possibly damaging |
Het |
| Dennd4c |
A |
G |
4: 86,717,778 (GRCm39) |
T592A |
probably damaging |
Het |
| Dhcr24 |
G |
A |
4: 106,429,517 (GRCm39) |
G197S |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,369 (GRCm39) |
Y40C |
probably damaging |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hdac10 |
T |
C |
15: 89,010,097 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,263,465 (GRCm39) |
|
probably null |
Het |
| Mrpl19 |
G |
A |
6: 81,941,300 (GRCm39) |
T87I |
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,664 (GRCm39) |
|
probably benign |
Het |
| Nhlrc2 |
A |
G |
19: 56,585,793 (GRCm39) |
E676G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,351,298 (GRCm39) |
D1899G |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,185 (GRCm39) |
D52G |
probably benign |
Het |
| Or10g9b |
A |
G |
9: 39,917,349 (GRCm39) |
F299L |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,098,194 (GRCm39) |
I151F |
probably benign |
Het |
| Or2aj6 |
T |
C |
16: 19,443,756 (GRCm39) |
I31M |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,515,115 (GRCm39) |
V54A |
probably benign |
Het |
| Pbx1 |
A |
T |
1: 168,011,171 (GRCm39) |
H376Q |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,083,861 (GRCm39) |
C877S |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,336,649 (GRCm39) |
L373P |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,376,197 (GRCm39) |
R355W |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,110,206 (GRCm39) |
N127K |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,070,990 (GRCm39) |
I1511V |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,549 (GRCm39) |
R2071H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,070,311 (GRCm39) |
C2492S |
possibly damaging |
Het |
| Tbr1 |
C |
A |
2: 61,635,218 (GRCm39) |
T56N |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,149 (GRCm39) |
Y890* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,287 (GRCm39) |
T207A |
probably benign |
Het |
| Tmem241 |
A |
G |
18: 12,246,489 (GRCm39) |
W54R |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,208,377 (GRCm39) |
V326A |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,258,577 (GRCm39) |
D557Y |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,323,669 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zc3h7a |
A |
C |
16: 10,965,140 (GRCm39) |
S664R |
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 |
|
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 |
|
R3909:Fbxl17
|
UTSW |
17 |
63,806,802 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation