Incidental Mutation 'R6615:Fbxo41'
ID |
523928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo41
|
Ensembl Gene |
ENSMUSG00000047013 |
Gene Name |
F-box protein 41 |
Synonyms |
D6Ertd538e |
MMRRC Submission |
044738-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.349)
|
Stock # |
R6615 (G1)
|
Quality Score |
202.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
85446556-85479976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85455505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 560
(T560A)
|
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: T560A
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125671 Gene: ENSMUSG00000047013 AA Change: T560A
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: T560A
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124524 Gene: ENSMUSG00000047013 AA Change: T560A
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: T560A
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124754 Gene: ENSMUSG00000047013 AA Change: T560A
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: 98.0%
- 20x: 94.4%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
Sugp2 |
A |
G |
8: 70,695,420 (GRCm39) |
Q131R |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
probably null |
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 |
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'- TTCTGCTGCACAAAGTTGGG -3'
(R):5'- TGTGGGAGGTCTCATACTCAC -3'
Sequencing Primer
(F):5'- CTCAAGTAGCACTCTCGT -3'
(R):5'- GGAGGTCTCATACTCACCCATG -3'
|
Posted On |
2018-06-22 |