Incidental Mutation 'R5854:Fbxo41'
| ID |
454817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo41
|
| Ensembl Gene |
ENSMUSG00000047013 |
| Gene Name |
F-box protein 41 |
| Synonyms |
D6Ertd538e |
| MMRRC Submission |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85452076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 810
(L810P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
|
| AlphaFold |
Q6NS60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159062
AA Change: L810P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: L810P
| 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: L810P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: L810P
| 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: L810P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: L810P
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGTGTGCAATTTCCCC -3'
(R):5'- GACTTTGTCACCAGGCCTATC -3'
Sequencing Primer
(F):5'- GCAAGCTGAATTCTGGTAGCACTAC -3'
(R):5'- ATCTTCTTCCTCTCCTAGCAAGAAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation