Incidental Mutation 'IGL02343:Fbxo41'
| ID |
289176 |
| 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: 0.429)
|
| Stock # |
IGL02343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85455153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 617
(L617F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
|
| AlphaFold |
Q6NS60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159062
AA Change: L617F
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: L617F
| 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 |
possibly damaging
Transcript: ENSMUST00000161078
AA Change: L617F
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: L617F
| 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 |
possibly damaging
Transcript: ENSMUST00000161546
AA Change: L617F
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: L617F
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
| Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
| Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
| Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
| Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
| S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
| Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
| T |
C |
A |
17: 8,658,732 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably 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 |
|
|
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 |
Incidental Mutation