Incidental Mutation 'R8801:Fbxo41'
ID |
671491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo41
|
Ensembl Gene |
ENSMUSG00000047013 |
Gene Name |
F-box protein 41 |
Synonyms |
D6Ertd538e |
MMRRC Submission |
068611-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.349)
|
Stock # |
R8801 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85461663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 15
(E15V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
|
AlphaFold |
Q6NS60 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159062
AA Change: E15V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125671 Gene: ENSMUSG00000047013 AA Change: E15V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
Pfam:F-box
|
536 |
592 |
4.8e-5 |
PFAM |
Pfam:F-box-like
|
554 |
593 |
9e-10 |
PFAM |
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161078
AA Change: E15V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124524 Gene: ENSMUSG00000047013 AA Change: E15V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
Pfam:F-box
|
536 |
592 |
4.8e-5 |
PFAM |
Pfam:F-box-like
|
554 |
593 |
9e-10 |
PFAM |
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161546
AA Change: E15V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124754 Gene: ENSMUSG00000047013 AA Change: E15V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
8 |
33 |
5.81e-2 |
SMART |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
low complexity region
|
100 |
122 |
N/A |
INTRINSIC |
low complexity region
|
162 |
192 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
197 |
340 |
2e-5 |
SMART |
low complexity region
|
352 |
374 |
N/A |
INTRINSIC |
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
low complexity region
|
519 |
540 |
N/A |
INTRINSIC |
Pfam:F-box-like
|
554 |
593 |
5.6e-10 |
PFAM |
low complexity region
|
745 |
759 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
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 an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and premature death by 10 weeks, growth retardation, abnormal gait, dragging hindlimbs, ataxia, impaired balance, impaired coordination, tremors and abnormal neuronal migration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
G |
A |
6: 92,808,972 (GRCm39) |
V100I |
unknown |
Het |
Acta2 |
G |
T |
19: 34,229,207 (GRCm39) |
Q61K |
probably damaging |
Het |
Adamts20 |
T |
G |
15: 94,258,490 (GRCm39) |
D357A |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,009,452 (GRCm39) |
F798S |
probably benign |
Het |
Aldh16a1 |
A |
G |
7: 44,791,438 (GRCm39) |
V779A |
probably benign |
Het |
Arid1b |
C |
A |
17: 5,387,103 (GRCm39) |
P1466T |
probably benign |
Het |
B3gnt2 |
T |
C |
11: 22,787,002 (GRCm39) |
E62G |
probably damaging |
Het |
Bcan |
A |
C |
3: 87,904,582 (GRCm39) |
V58G |
probably damaging |
Het |
Bhlhe41 |
T |
C |
6: 145,810,339 (GRCm39) |
Q66R |
probably damaging |
Het |
Cdh6 |
G |
A |
15: 13,044,847 (GRCm39) |
T425I |
probably damaging |
Het |
Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
G |
4: 128,457,195 (GRCm39) |
Y3554C |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 48,321,024 (GRCm39) |
H262L |
possibly damaging |
Het |
Dgcr8 |
A |
G |
16: 18,098,500 (GRCm39) |
F334S |
probably damaging |
Het |
Dipk1c |
T |
C |
18: 84,757,617 (GRCm39) |
S234P |
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,410,022 (GRCm39) |
T497A |
probably benign |
Het |
Dsp |
T |
C |
13: 38,381,502 (GRCm39) |
V2749A |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 4,916,270 (GRCm39) |
N486D |
unknown |
Het |
Fbn2 |
T |
C |
18: 58,287,021 (GRCm39) |
T213A |
probably damaging |
Het |
Fga |
G |
A |
3: 82,938,188 (GRCm39) |
A188T |
possibly damaging |
Het |
Frk |
C |
T |
10: 34,423,402 (GRCm39) |
S160F |
possibly damaging |
Het |
Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
Gss |
T |
C |
2: 155,406,686 (GRCm39) |
Y432C |
probably damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,423,298 (GRCm39) |
F5I |
unknown |
Het |
Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
Klf12 |
T |
G |
14: 100,260,172 (GRCm39) |
I186L |
probably benign |
Het |
Klrg1 |
C |
T |
6: 122,248,342 (GRCm39) |
V186I |
probably benign |
Het |
Loxl3 |
G |
T |
6: 83,025,629 (GRCm39) |
W329L |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,835,595 (GRCm39) |
V1759E |
probably benign |
Het |
Mlph |
G |
A |
1: 90,870,609 (GRCm39) |
V507I |
probably benign |
Het |
Mroh8 |
G |
A |
2: 157,075,086 (GRCm39) |
T470M |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,888,373 (GRCm39) |
Y175H |
possibly damaging |
Het |
Nedd4l |
A |
G |
18: 65,288,346 (GRCm39) |
E2G |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 91,009,393 (GRCm39) |
|
probably benign |
Het |
Optc |
A |
G |
1: 133,832,819 (GRCm39) |
S94P |
possibly damaging |
Het |
Or8k33 |
A |
G |
2: 86,383,727 (GRCm39) |
V247A |
probably benign |
Het |
Oxtr |
T |
A |
6: 112,466,873 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,758,305 (GRCm39) |
R1463G |
probably benign |
Het |
Pramel30 |
A |
G |
4: 144,059,438 (GRCm39) |
Y383C |
probably benign |
Het |
Psmc3ip |
T |
C |
11: 100,984,617 (GRCm39) |
N76S |
probably benign |
Het |
Reln |
T |
A |
5: 22,155,854 (GRCm39) |
M2213L |
possibly damaging |
Het |
Rock1 |
T |
C |
18: 10,070,260 (GRCm39) |
D1271G |
probably damaging |
Het |
Rprd1a |
T |
G |
18: 24,641,280 (GRCm39) |
E112A |
probably benign |
Het |
Sacm1l |
A |
T |
9: 123,411,384 (GRCm39) |
D391V |
probably damaging |
Het |
Serpina3f |
A |
T |
12: 104,185,737 (GRCm39) |
H314L |
probably benign |
Het |
Setd5 |
T |
A |
6: 113,127,853 (GRCm39) |
S1269T |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,308,335 (GRCm39) |
E740G |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,663,742 (GRCm39) |
Q46L |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,173,618 (GRCm39) |
A21T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,792,985 (GRCm39) |
L286H |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,822,848 (GRCm39) |
T721A |
probably benign |
Het |
Vps41 |
T |
C |
13: 18,998,403 (GRCm39) |
S241P |
possibly damaging |
Het |
|
Other mutations in Fbxo41 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00571:Fbxo41
|
APN |
6 |
85,455,084 (GRCm39) |
splice site |
probably null |
|
IGL00919:Fbxo41
|
APN |
6 |
85,455,552 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01135:Fbxo41
|
APN |
6 |
85,454,890 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02084:Fbxo41
|
APN |
6 |
85,457,747 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02343:Fbxo41
|
APN |
6 |
85,455,153 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03284:Fbxo41
|
APN |
6 |
85,456,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Fbxo41
|
UTSW |
6 |
85,454,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Fbxo41
|
UTSW |
6 |
85,455,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Fbxo41
|
UTSW |
6 |
85,455,453 (GRCm39) |
nonsense |
probably null |
|
R2065:Fbxo41
|
UTSW |
6 |
85,455,453 (GRCm39) |
nonsense |
probably null |
|
R2067:Fbxo41
|
UTSW |
6 |
85,455,453 (GRCm39) |
nonsense |
probably null |
|
R3433:Fbxo41
|
UTSW |
6 |
85,454,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R3522:Fbxo41
|
UTSW |
6 |
85,461,163 (GRCm39) |
missense |
probably benign |
0.00 |
R4086:Fbxo41
|
UTSW |
6 |
85,455,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4520:Fbxo41
|
UTSW |
6 |
85,461,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4521:Fbxo41
|
UTSW |
6 |
85,461,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4522:Fbxo41
|
UTSW |
6 |
85,461,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4523:Fbxo41
|
UTSW |
6 |
85,461,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4524:Fbxo41
|
UTSW |
6 |
85,461,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4867:Fbxo41
|
UTSW |
6 |
85,452,176 (GRCm39) |
missense |
probably benign |
|
R4970:Fbxo41
|
UTSW |
6 |
85,454,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Fbxo41
|
UTSW |
6 |
85,460,901 (GRCm39) |
missense |
probably damaging |
0.98 |
R5112:Fbxo41
|
UTSW |
6 |
85,454,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Fbxo41
|
UTSW |
6 |
85,456,888 (GRCm39) |
missense |
probably benign |
|
R5331:Fbxo41
|
UTSW |
6 |
85,456,888 (GRCm39) |
missense |
probably benign |
|
R5334:Fbxo41
|
UTSW |
6 |
85,455,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Fbxo41
|
UTSW |
6 |
85,456,883 (GRCm39) |
missense |
probably benign |
0.00 |
R5632:Fbxo41
|
UTSW |
6 |
85,461,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Fbxo41
|
UTSW |
6 |
85,454,638 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5801:Fbxo41
|
UTSW |
6 |
85,461,515 (GRCm39) |
missense |
probably damaging |
0.97 |
R5854:Fbxo41
|
UTSW |
6 |
85,452,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Fbxo41
|
UTSW |
6 |
85,455,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Fbxo41
|
UTSW |
6 |
85,455,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R6615:Fbxo41
|
UTSW |
6 |
85,455,505 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7061:Fbxo41
|
UTSW |
6 |
85,452,448 (GRCm39) |
missense |
probably benign |
0.36 |
R7353:Fbxo41
|
UTSW |
6 |
85,456,958 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7681:Fbxo41
|
UTSW |
6 |
85,455,461 (GRCm39) |
nonsense |
probably null |
|
R8077:Fbxo41
|
UTSW |
6 |
85,450,211 (GRCm39) |
missense |
probably damaging |
0.98 |
X0024:Fbxo41
|
UTSW |
6 |
85,455,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTGCTCTCAAAGACCTCAC -3'
(R):5'- AGGCTGTTGAGCTTCACTTTC -3'
Sequencing Primer
(F):5'- TCAAAGACCTCACGCCGGG -3'
(R):5'- GTTGAGCTTCACTTTCTTTCTTCTAG -3'
|
Posted On |
2021-04-30 |