Incidental Mutation 'R0269:Fbxl17'
ID |
35168 |
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 |
038495-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.821)
|
Stock # |
R0269 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 63691987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 42
(F42V)
|
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: F523V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000024761 Gene: ENSMUSG00000023965 AA Change: F523V
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: ENSMUST00000090318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112839
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112840
AA Change: F42V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108459 Gene: ENSMUSG00000023965 AA Change: F42V
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 |
0.2772 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.1%
- 20x: 93.6%
|
Validation Efficiency |
100% (59/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,838,201 (GRCm39) |
V231I |
possibly damaging |
Het |
Abca1 |
T |
C |
4: 53,044,228 (GRCm39) |
D1798G |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
Amhr2 |
T |
C |
15: 102,355,503 (GRCm39) |
C189R |
probably benign |
Het |
Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,511,246 (GRCm39) |
Y153C |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
Cd46 |
T |
G |
1: 194,746,996 (GRCm39) |
I339L |
probably benign |
Het |
Cdkn2aip |
A |
G |
8: 48,165,012 (GRCm39) |
S234P |
probably damaging |
Het |
Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
Csf2rb2 |
G |
T |
15: 78,173,065 (GRCm39) |
T265N |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,762,340 (GRCm39) |
F436L |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,753,446 (GRCm39) |
F24S |
probably benign |
Het |
Defb12 |
G |
T |
8: 19,164,375 (GRCm39) |
A34E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
Gldc |
T |
A |
19: 30,096,002 (GRCm39) |
I670F |
probably damaging |
Het |
Guf1 |
A |
C |
5: 69,716,942 (GRCm39) |
Q168P |
probably damaging |
Het |
Hcn2 |
A |
G |
10: 79,570,075 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,203,942 (GRCm39) |
M190V |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,738,767 (GRCm39) |
E294G |
probably benign |
Het |
Kdelr1 |
T |
A |
7: 45,523,463 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,090,511 (GRCm39) |
H1158Q |
probably damaging |
Het |
Laptm5 |
A |
T |
4: 130,658,127 (GRCm39) |
N185Y |
probably benign |
Het |
Mgat4a |
A |
G |
1: 37,529,388 (GRCm39) |
Y164H |
possibly damaging |
Het |
Mlh3 |
C |
A |
12: 85,315,179 (GRCm39) |
V336L |
probably benign |
Het |
Myadm |
A |
G |
7: 3,345,273 (GRCm39) |
T12A |
unknown |
Het |
Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
Or8g34 |
T |
C |
9: 39,373,090 (GRCm39) |
M118T |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
Recql5 |
T |
C |
11: 115,819,050 (GRCm39) |
D172G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
Rgs7 |
A |
G |
1: 175,098,386 (GRCm39) |
S58P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
Sgsm1 |
T |
C |
5: 113,434,795 (GRCm39) |
|
probably null |
Het |
Slc22a19 |
A |
T |
19: 7,686,986 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,936,332 (GRCm39) |
Y428* |
probably null |
Het |
Smarca4 |
T |
G |
9: 21,547,497 (GRCm39) |
M260R |
probably benign |
Het |
Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,830,069 (GRCm39) |
I322V |
probably benign |
Het |
Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,712,661 (GRCm39) |
I61N |
probably damaging |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
Trmt11 |
T |
A |
10: 30,463,485 (GRCm39) |
H210L |
probably benign |
Het |
Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 188,542,373 (GRCm39) |
M3313K |
probably benign |
Het |
Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGGTAACAGAAAGCTCTGCTTC -3'
(R):5'- TTGGTGCAGATCCAAAGGACCCAC -3'
Sequencing Primer
(F):5'- aggcagaccacaagttcaag -3'
(R):5'- TCCAAAGGACCCACTGGAAAG -3'
|
Posted On |
2013-05-09 |