Incidental Mutation 'IGL02084:Fbxo41'
ID |
283486 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxo41
|
Ensembl Gene |
ENSMUSG00000047013 |
Gene Name |
F-box protein 41 |
Synonyms |
D6Ertd538e |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.349)
|
Stock # |
IGL02084
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 85457747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159062]
[ENSMUST00000159062]
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161078]
[ENSMUST00000161078]
[ENSMUST00000161546]
[ENSMUST00000161546]
[ENSMUST00000161546]
|
AlphaFold |
Q6NS60 |
Predicted Effect |
probably null
Transcript: ENSMUST00000159062
|
SMART Domains |
Protein: ENSMUSP00000125671 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000159062
|
SMART Domains |
Protein: ENSMUSP00000125671 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000159062
|
SMART Domains |
Protein: ENSMUSP00000125671 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000161078
|
SMART Domains |
Protein: ENSMUSP00000124524 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000161078
|
SMART Domains |
Protein: ENSMUSP00000124524 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000161078
|
SMART Domains |
Protein: ENSMUSP00000124524 Gene: ENSMUSG00000047013
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 null
Transcript: ENSMUST00000161546
|
SMART Domains |
Protein: ENSMUSP00000124754 Gene: ENSMUSG00000047013
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161546
|
SMART Domains |
Protein: ENSMUSP00000124754 Gene: ENSMUSG00000047013
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161546
|
SMART Domains |
Protein: ENSMUSP00000124754 Gene: ENSMUSG00000047013
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
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 |
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 |
R8801:Fbxo41
|
UTSW |
6 |
85,461,663 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Fbxo41
|
UTSW |
6 |
85,455,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |