Incidental Mutation 'R0358:Fbxl17'
ID |
65642 |
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 |
038564-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.821)
|
Stock # |
R0358 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 63663846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 67
(R67C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
[ENSMUST00000112840]
|
AlphaFold |
Q9QZN1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024761
AA Change: R548C
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000024761 Gene: ENSMUSG00000023965 AA Change: R548C
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112839
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112840
AA Change: R67C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108459 Gene: ENSMUSG00000023965 AA Change: R67C
Domain | Start | End | E-Value | Type |
LRR
|
8 |
33 |
1.2e1 |
SMART |
LRR
|
34 |
58 |
6.57e-1 |
SMART |
LRR
|
59 |
83 |
4.67e1 |
SMART |
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
LRR
|
110 |
134 |
1.89e-1 |
SMART |
LRR
|
135 |
160 |
5.25e1 |
SMART |
LRR
|
161 |
186 |
1.47e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169134
|
Meta Mutation Damage Score |
0.4300 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.5%
|
Validation Efficiency |
100% (64/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
A |
17: 79,935,585 (GRCm39) |
|
probably benign |
Het |
Abca16 |
A |
T |
7: 120,143,939 (GRCm39) |
K1651N |
probably benign |
Het |
Abcb1b |
T |
C |
5: 8,871,423 (GRCm39) |
S326P |
probably benign |
Het |
Ache |
A |
G |
5: 137,288,635 (GRCm39) |
T114A |
probably benign |
Het |
Akap3 |
T |
A |
6: 126,843,775 (GRCm39) |
V798D |
probably damaging |
Het |
Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
Aqp4 |
T |
C |
18: 15,531,302 (GRCm39) |
N153S |
probably benign |
Het |
Arhgap23 |
G |
A |
11: 97,354,414 (GRCm39) |
V265M |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,020,322 (GRCm39) |
M326K |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,334,961 (GRCm39) |
|
probably benign |
Het |
Cars1 |
A |
T |
7: 143,142,219 (GRCm39) |
|
probably benign |
Het |
Cep83 |
A |
T |
10: 94,555,593 (GRCm39) |
M96L |
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,231,449 (GRCm39) |
|
probably benign |
Het |
Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
Cul7 |
G |
A |
17: 46,974,670 (GRCm39) |
|
probably null |
Het |
Dhrs2 |
G |
A |
14: 55,473,574 (GRCm39) |
V78M |
probably damaging |
Het |
Dhx38 |
A |
T |
8: 110,279,094 (GRCm39) |
D1051E |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,755,627 (GRCm39) |
|
probably benign |
Het |
Egln3 |
T |
C |
12: 54,250,082 (GRCm39) |
E89G |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,294,410 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
T |
2: 82,813,677 (GRCm39) |
N3332I |
possibly damaging |
Het |
Gbp2b |
A |
T |
3: 142,312,550 (GRCm39) |
E311V |
probably damaging |
Het |
Gcnt2 |
G |
T |
13: 41,014,329 (GRCm39) |
A167S |
probably damaging |
Het |
Gm9797 |
A |
T |
10: 11,485,088 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
A |
G |
4: 133,305,215 (GRCm39) |
|
probably null |
Het |
Gpr22 |
T |
C |
12: 31,759,981 (GRCm39) |
N47S |
probably benign |
Het |
Il18rap |
A |
T |
1: 40,588,202 (GRCm39) |
H600L |
possibly damaging |
Het |
Larp7 |
A |
G |
3: 127,340,737 (GRCm39) |
|
probably null |
Het |
Mep1a |
A |
G |
17: 43,789,841 (GRCm39) |
Y490H |
possibly damaging |
Het |
Mrgprh |
T |
A |
17: 13,096,237 (GRCm39) |
V159D |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,402,231 (GRCm39) |
I64N |
probably damaging |
Het |
Nup214 |
G |
A |
2: 31,894,312 (GRCm39) |
|
probably null |
Het |
Or10d1b |
A |
G |
9: 39,613,297 (GRCm39) |
I256T |
possibly damaging |
Het |
Or13a21 |
G |
T |
7: 139,998,856 (GRCm39) |
L277M |
probably damaging |
Het |
Or2o1 |
T |
A |
11: 49,051,071 (GRCm39) |
C77S |
probably benign |
Het |
Or4k15b |
A |
T |
14: 50,272,743 (GRCm39) |
L39Q |
probably damaging |
Het |
Pef1 |
A |
G |
4: 130,021,180 (GRCm39) |
T245A |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,838,217 (GRCm39) |
|
probably benign |
Het |
Ppig |
A |
G |
2: 69,573,942 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
G |
T |
4: 132,562,039 (GRCm39) |
F60L |
probably damaging |
Het |
Psmd11 |
G |
A |
11: 80,353,510 (GRCm39) |
|
probably benign |
Het |
Ptk6 |
G |
T |
2: 180,840,315 (GRCm39) |
H230Q |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,863,226 (GRCm39) |
Y1496C |
probably damaging |
Het |
Rhbdl3 |
G |
T |
11: 80,244,457 (GRCm39) |
W388L |
probably damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,109 (GRCm39) |
M185K |
probably benign |
Het |
S100a13 |
A |
T |
3: 90,423,299 (GRCm39) |
I97F |
probably damaging |
Het |
Slc22a16 |
T |
G |
10: 40,463,488 (GRCm39) |
|
probably null |
Het |
Tcte1 |
A |
T |
17: 45,846,211 (GRCm39) |
T272S |
probably benign |
Het |
Terf1 |
T |
C |
1: 15,876,062 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,783,988 (GRCm39) |
N189K |
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
Trpv4 |
A |
G |
5: 114,768,493 (GRCm39) |
F525S |
probably damaging |
Het |
Ttll7 |
A |
G |
3: 146,649,871 (GRCm39) |
T634A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,929,918 (GRCm39) |
D47G |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,269,977 (GRCm39) |
N1741K |
possibly damaging |
Het |
Wdr87-ps |
A |
T |
7: 29,231,636 (GRCm39) |
|
noncoding transcript |
Het |
Zfp451 |
T |
A |
1: 33,816,810 (GRCm39) |
H163L |
probably damaging |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2013-08-08 |