Incidental Mutation 'R5334:Fbxo41'
| ID |
423406 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5334 (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 85455465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 573
(V573A)
|
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: V573A
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: V573A
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: V573A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
| Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
| Aqp9 |
T |
C |
9: 71,030,292 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
| Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
| Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,897,073 (GRCm39) |
S276P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
| Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
| Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
| Mlip |
T |
A |
9: 77,150,958 (GRCm39) |
T33S |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
| Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
| Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
| Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,129,548 (GRCm39) |
C294R |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,034 (GRCm39) |
F228S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
| Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
| Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
| Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTAGAGGTCTGAACTGGACTG -3'
(R):5'- TTCTCCAGCACGTCCTGAAG -3'
Sequencing Primer
(F):5'- AGGCACTGTGACAGCATCTTG -3'
(R):5'- TCCTGAAGGAGGCAGCG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation