Incidental Mutation 'R4025:Fbxl7'
ID |
313463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxl7
|
Ensembl Gene |
ENSMUSG00000043556 |
Gene Name |
F-box and leucine-rich repeat protein 7 |
Synonyms |
FBL7, Fbl6, D230018M15Rik |
MMRRC Submission |
040958-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4025 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
26540540-26895650 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26552905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059204]
|
AlphaFold |
Q5BJ29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059204
AA Change: S121P
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000061305 Gene: ENSMUSG00000043556 AA Change: S121P
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
Atad5 |
A |
G |
11: 80,011,512 (GRCm39) |
D1293G |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,168,624 (GRCm39) |
K1428N |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
Gm9920 |
A |
G |
15: 54,975,966 (GRCm39) |
R25G |
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,735,706 (GRCm39) |
A1651V |
probably benign |
Het |
Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Nutm2 |
A |
G |
13: 50,623,389 (GRCm39) |
I29V |
probably benign |
Het |
Odf2 |
C |
T |
2: 29,816,827 (GRCm39) |
R763W |
probably damaging |
Het |
Or8d4 |
T |
C |
9: 40,038,796 (GRCm39) |
T154A |
probably benign |
Het |
Papss2 |
T |
C |
19: 32,629,323 (GRCm39) |
I304T |
probably damaging |
Het |
Polr2a |
T |
A |
11: 69,634,485 (GRCm39) |
I693F |
possibly damaging |
Het |
Ppm1d |
T |
A |
11: 85,236,583 (GRCm39) |
I454N |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,316,378 (GRCm39) |
E2366G |
probably benign |
Het |
Slc22a20 |
T |
C |
19: 6,035,808 (GRCm39) |
T121A |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,525,685 (GRCm39) |
S262P |
probably damaging |
Het |
Slfn4 |
A |
T |
11: 83,078,040 (GRCm39) |
N276I |
probably damaging |
Het |
Spag7 |
C |
A |
11: 70,555,300 (GRCm39) |
E130D |
probably damaging |
Het |
Spns1 |
A |
T |
7: 125,976,118 (GRCm39) |
C28* |
probably null |
Het |
Stab1 |
C |
T |
14: 30,876,909 (GRCm39) |
G805D |
possibly damaging |
Het |
Swi5 |
T |
C |
2: 32,171,800 (GRCm39) |
D41G |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uxs1 |
T |
C |
1: 43,841,776 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,341,746 (GRCm39) |
D1329G |
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 |
R2410:Fbxl7
|
UTSW |
15 |
26,895,111 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
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'- ACTGACAATGACAGTCTCCAGC -3'
(R):5'- CACCGACTTTGCCAGGATTTC -3'
Sequencing Primer
(F):5'- ATGACAGTCTCCAGCATGAG -3'
(R):5'- CCGACTTTGCCAGGATTTCAGAATG -3'
|
Posted On |
2015-04-30 |