Incidental Mutation 'IGL03408:Fbxl17'
| ID |
421664 |
| 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 # |
IGL03408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
63364447-63807012 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 63387541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 133
(R133*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024761]
[ENSMUST00000112840]
|
| AlphaFold |
Q9QZN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024761
AA Change: R614*
|
| SMART Domains |
Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: R614*
| 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 null
Transcript: ENSMUST00000112840
AA Change: R133*
|
| SMART Domains |
Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: R133*
| 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
|
| 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 |
|---|
| Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
| Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
| Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
| Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
| Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
| Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
| Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
| Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
| Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
| Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
| Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation