Incidental Mutation 'R8077:Fbxo41'
| ID |
629072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo41
|
| Ensembl Gene |
ENSMUSG00000047013 |
| Gene Name |
F-box protein 41 |
| Synonyms |
D6Ertd538e |
| MMRRC Submission |
067511-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R8077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85450211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 844
(L844Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032078]
[ENSMUST00000159062]
[ENSMUST00000161078]
[ENSMUST00000161546]
[ENSMUST00000204489]
[ENSMUST00000204592]
|
| AlphaFold |
Q6NS60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032078
|
| SMART Domains |
Protein: ENSMUSP00000032078
Gene: ENSMUSG00000030007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
32 |
524 |
1.8e-163 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159062
AA Change: L844Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: L844Q
| 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: L844Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: L844Q
| 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: L844Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: L844Q
| 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 benign
Transcript: ENSMUST00000204489
|
| SMART Domains |
Protein: ENSMUSP00000144919
Gene: ENSMUSG00000030007
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B2T|H
|
1 |
53 |
2e-29 |
PDB |
|
Blast:VWA
|
5 |
51 |
4e-7 |
BLAST |
|
SCOP:d1a6da1
|
16 |
51 |
2e-8 |
SMART |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204592
|
| SMART Domains |
Protein: ENSMUSP00000144893
Gene: ENSMUSG00000030007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
32 |
91 |
6e-21 |
PFAM |
|
Pfam:Cpn60_TCP1
|
88 |
482 |
5e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,237 (GRCm39) |
V132E |
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,895,250 (GRCm39) |
V315M |
probably damaging |
Het |
| Aadacl4fm1 |
T |
C |
4: 144,255,126 (GRCm39) |
I182T |
probably benign |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Amotl1 |
A |
T |
9: 14,461,798 (GRCm39) |
V805D |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,107,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,366,858 (GRCm39) |
L247F |
possibly damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,735,968 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,705,530 (GRCm39) |
H671R |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
G |
T |
8: 46,623,482 (GRCm39) |
V291F |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,777,288 (GRCm39) |
V861A |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,950 (GRCm39) |
D88V |
probably damaging |
Het |
| Col18a1 |
C |
A |
10: 76,916,685 (GRCm39) |
G330V |
unknown |
Het |
| Dis3 |
C |
T |
14: 99,327,471 (GRCm39) |
R344Q |
probably benign |
Het |
| Esyt2 |
T |
A |
12: 116,305,848 (GRCm39) |
S359R |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,651,761 (GRCm39) |
T1372M |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,213,500 (GRCm39) |
R472H |
probably benign |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gm9507 |
T |
A |
10: 77,647,604 (GRCm39) |
E25V |
unknown |
Het |
| Golgb1 |
A |
G |
16: 36,738,995 (GRCm39) |
I2486V |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,823,478 (GRCm39) |
Y595H |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,247,244 (GRCm39) |
V326I |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,399,186 (GRCm39) |
H449L |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc8b |
C |
A |
5: 105,627,883 (GRCm39) |
S76R |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,545,783 (GRCm39) |
L527P |
probably damaging |
Het |
| Luc7l |
T |
C |
17: 26,474,047 (GRCm39) |
V35A |
probably damaging |
Het |
| Luzp1 |
T |
G |
4: 136,270,402 (GRCm39) |
V875G |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,048,494 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,203 (GRCm39) |
S242T |
probably benign |
Het |
| Muc21 |
TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG |
TCAGTGGTGGTCAGG |
17: 35,930,628 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,340,734 (GRCm39) |
R1995S |
possibly damaging |
Het |
| Nup35 |
A |
G |
2: 80,469,280 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
C |
T |
7: 140,271,046 (GRCm39) |
S76F |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,312 (GRCm39) |
D157G |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,979,411 (GRCm39) |
|
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,532,316 (GRCm39) |
K109E |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,688,626 (GRCm39) |
L444Q |
probably damaging |
Het |
| Qtrt1 |
C |
T |
9: 21,331,392 (GRCm39) |
R374* |
probably null |
Het |
| Rnase11 |
T |
C |
14: 51,287,398 (GRCm39) |
D52G |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,774,158 (GRCm39) |
S148P |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,947,044 (GRCm39) |
K86E |
possibly damaging |
Het |
| Sh2d1b2 |
A |
G |
1: 170,075,742 (GRCm39) |
K59E |
possibly damaging |
Het |
| Six6 |
T |
A |
12: 72,987,100 (GRCm39) |
W91R |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,931,092 (GRCm39) |
A136S |
possibly damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,012 (GRCm39) |
R593H |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,630,804 (GRCm39) |
M1V |
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,051,647 (GRCm39) |
Y239C |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,501,345 (GRCm39) |
E405G |
probably damaging |
Het |
| Tle7 |
C |
T |
8: 110,836,735 (GRCm39) |
T207M |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,196 (GRCm39) |
I194V |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,395,667 (GRCm39) |
C1246S |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,575 (GRCm39) |
Q127L |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,275,025 (GRCm39) |
I1833V |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,093 (GRCm39) |
Y308N |
probably benign |
Het |
| Vti1a |
T |
G |
19: 55,564,917 (GRCm39) |
L191R |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,570,153 (GRCm39) |
N310K |
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 |
|
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 |
|
|
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'- AATCTTCGAGAAGCCAGGCC -3'
(R):5'- TTTCATTATGAGCTGCAGCCAG -3'
Sequencing Primer
(F):5'- AGAAGCCAGGCCTCCGAC -3'
(R):5'- CTGGCCCAGGTGTGTTTCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation