Incidental Mutation 'R2410:Fbxl7'
| ID |
249961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl7
|
| Ensembl Gene |
ENSMUSG00000043556 |
| Gene Name |
F-box and leucine-rich repeat protein 7 |
| Synonyms |
FBL7, Fbl6, D230018M15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2410 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
26540540-26895650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26895111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 9
(Y9H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059204]
|
| AlphaFold |
Q5BJ29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059204
AA Change: Y9H
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: Y9H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
79 |
N/A |
INTRINSIC |
|
FBOX
|
117 |
157 |
2.7e-11 |
SMART |
|
LRR_CC
|
185 |
210 |
2e-7 |
SMART |
|
LRR_CC
|
211 |
236 |
2.1e-7 |
SMART |
|
LRR
|
237 |
262 |
6.3e-7 |
SMART |
|
LRR
|
271 |
296 |
3.5e-1 |
SMART |
|
LRR_CC
|
297 |
322 |
1.7e-8 |
SMART |
|
LRR_CC
|
323 |
348 |
5.5e-8 |
SMART |
|
LRR_CC
|
349 |
374 |
6.5e-8 |
SMART |
|
LRR_CC
|
375 |
400 |
9.1e-10 |
SMART |
|
LRR_CC
|
401 |
426 |
2.1e-8 |
SMART |
|
LRR_CC
|
427 |
452 |
1.8e-7 |
SMART |
|
Blast:LRR
|
453 |
477 |
2e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226377
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
| Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
| Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
| Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
| Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,491,278 (GRCm39) |
I66V |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
probably benign |
Het |
|
| Other mutations in Fbxl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Fbxl7
|
APN |
15 |
26,789,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0482:Fbxl7
|
UTSW |
15 |
26,543,632 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1734:Fbxl7
|
UTSW |
15 |
26,543,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Fbxl7
|
UTSW |
15 |
26,552,851 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1859:Fbxl7
|
UTSW |
15 |
26,543,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Fbxl7
|
UTSW |
15 |
26,543,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3704:Fbxl7
|
UTSW |
15 |
26,543,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Fbxl7
|
UTSW |
15 |
26,552,905 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4387:Fbxl7
|
UTSW |
15 |
26,543,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Fbxl7
|
UTSW |
15 |
26,553,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5070:Fbxl7
|
UTSW |
15 |
26,789,640 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5180:Fbxl7
|
UTSW |
15 |
26,543,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Fbxl7
|
UTSW |
15 |
26,543,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Fbxl7
|
UTSW |
15 |
26,552,979 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6256:Fbxl7
|
UTSW |
15 |
26,553,088 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6874:Fbxl7
|
UTSW |
15 |
26,553,028 (GRCm39) |
missense |
probably benign |
|
|
R7143:Fbxl7
|
UTSW |
15 |
26,543,244 (GRCm39) |
missense |
probably benign |
|
|
R7941:Fbxl7
|
UTSW |
15 |
26,543,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Fbxl7
|
UTSW |
15 |
26,552,902 (GRCm39) |
missense |
probably benign |
|
|
R9211:Fbxl7
|
UTSW |
15 |
26,789,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9402:Fbxl7
|
UTSW |
15 |
26,552,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTTAAGAGACCCCAGTGG -3'
(R):5'- CACAAGTCTCTGCTCACTCG -3'
Sequencing Primer
(F):5'- TGGTGGAAAGGCACGTCC -3'
(R):5'- AATCTGAGAGCTCCGGTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation