Incidental Mutation 'IGL01135:Fbxo41'
| ID |
51368 |
| 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 # |
IGL01135
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85454890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 673
(S673T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
|
| AlphaFold |
Q6NS60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159062
AA Change: S673T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: S673T
| 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 benign
Transcript: ENSMUST00000161078
AA Change: S673T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: S673T
| 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 benign
Transcript: ENSMUST00000161546
AA Change: S673T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: S673T
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
| Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
| Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,526,208 (GRCm39) |
T147I |
probably benign |
Het |
| Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
| Isg20l2 |
A |
T |
3: 87,839,068 (GRCm39) |
D93V |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
| Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
| Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
| Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
| Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
| Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
| Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
| Trdmt1 |
T |
C |
2: 13,526,071 (GRCm39) |
|
probably null |
Het |
| Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation