Incidental Mutation 'R9113:Fbxl17'
| ID |
692381 |
| 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 |
068920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.821)
|
| Stock # |
R9113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63532085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 586
(V586A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
[ENSMUST00000112840]
|
| AlphaFold |
Q9QZN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024761
AA Change: V586A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: V586A
| 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 |
probably benign
Transcript: ENSMUST00000112840
AA Change: V105A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: V105A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,591,656 (GRCm39) |
I791F |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,822,498 (GRCm39) |
M389T |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,910,877 (GRCm39) |
V1065M |
probably damaging |
Het |
| Agbl1 |
C |
A |
7: 76,239,225 (GRCm39) |
A827E |
unknown |
Het |
| Alox5ap |
T |
C |
5: 149,216,015 (GRCm39) |
F67S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,072 (GRCm39) |
N2566S |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 77,985,701 (GRCm39) |
D722G |
probably damaging |
Het |
| Atp5mf |
A |
G |
5: 145,128,315 (GRCm39) |
L4P |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,940,557 (GRCm39) |
V130A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,882,700 (GRCm39) |
D1222G |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,075 (GRCm39) |
V161E |
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,426,144 (GRCm39) |
S1335P |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 113,888,192 (GRCm39) |
Y267* |
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,201,825 (GRCm39) |
Y38H |
unknown |
Het |
| Coro2a |
C |
T |
4: 46,563,047 (GRCm39) |
G36S |
|
Het |
| Ctsc |
A |
T |
7: 87,959,104 (GRCm39) |
K461N |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,712,831 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,880,713 (GRCm39) |
I2628T |
probably damaging |
Het |
| Dnajb5 |
T |
C |
4: 42,953,233 (GRCm39) |
I20T |
probably damaging |
Het |
| Dus2 |
C |
T |
8: 106,775,333 (GRCm39) |
Q287* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,887,452 (GRCm39) |
|
probably benign |
Het |
| Gm4924 |
G |
A |
10: 82,214,113 (GRCm39) |
C637Y |
unknown |
Het |
| Gorasp1 |
A |
G |
9: 119,757,442 (GRCm39) |
F310S |
probably damaging |
Het |
| Gsta5 |
A |
T |
9: 78,212,667 (GRCm39) |
I213F |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,883,328 (GRCm39) |
T2726I |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,475,231 (GRCm39) |
P940Q |
probably benign |
Het |
| Klk1b22 |
G |
A |
7: 43,765,692 (GRCm39) |
V183M |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,378 (GRCm39) |
M294T |
probably damaging |
Het |
| Krtap6-2 |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA |
16: 89,216,613 (GRCm39) |
|
probably benign |
Het |
| Lep |
T |
C |
6: 29,071,093 (GRCm39) |
L139P |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,224,532 (GRCm39) |
D64G |
probably damaging |
Het |
| Lyzl1 |
C |
T |
18: 4,168,604 (GRCm39) |
A28V |
probably null |
Het |
| Mcam |
T |
C |
9: 44,051,693 (GRCm39) |
V483A |
probably benign |
Het |
| Mia2 |
C |
T |
12: 59,217,053 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,197,782 (GRCm39) |
T742A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 71,861,493 (GRCm39) |
Y61C |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,741 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
G |
T |
18: 78,900,948 (GRCm39) |
H906Q |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,670,984 (GRCm39) |
V1032A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,236,140 (GRCm39) |
M285T |
probably damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,131,352 (GRCm39) |
Q553* |
probably null |
Het |
| Steap2 |
A |
G |
5: 5,727,475 (GRCm39) |
Y287H |
probably damaging |
Het |
| Tas2r135 |
T |
G |
6: 42,383,315 (GRCm39) |
F285V |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,618,538 (GRCm39) |
T16249A |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,579,343 (GRCm39) |
T299A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,811,288 (GRCm39) |
I457M |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 19,023,883 (GRCm39) |
E437G |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,953,894 (GRCm39) |
E1333V |
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 |
|
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 |
|
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'- TGCACTGAGCTCACATACAC -3'
(R):5'- CACTCAACTTGAAAGCAGAGCTG -3'
Sequencing Primer
(F):5'- CACATACACATCCATTCTACTGTG -3'
(R):5'- GCAGAGCTGTAAGTCTTCCTGATAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation