Incidental Mutation 'R9082:Fbxo31'
| ID |
690079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo31
|
| Ensembl Gene |
ENSMUSG00000052934 |
| Gene Name |
F-box protein 31 |
| Synonyms |
Fbxo14, 2310046N15Rik, Fbx14, 1110003O08Rik |
| MMRRC Submission |
068901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122276179-122305545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122281136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 337
(R337C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059018]
[ENSMUST00000127664]
|
| AlphaFold |
Q3TQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059018
AA Change: R337C
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057573
Gene: ENSMUSG00000052934
AA Change: R337C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
FBOX
|
56 |
96 |
3.45e-8 |
SMART |
|
low complexity region
|
358 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
G |
T |
5: 90,698,095 (GRCm39) |
C499F |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,126,662 (GRCm39) |
V56D |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,099,874 (GRCm39) |
S408L |
unknown |
Het |
| Cdk4 |
T |
A |
10: 126,900,732 (GRCm39) |
L128Q |
probably damaging |
Het |
| Clu |
T |
C |
14: 66,217,153 (GRCm39) |
S329P |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,335 (GRCm39) |
N1071D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,852,122 (GRCm39) |
S540P |
possibly damaging |
Het |
| Cpne2 |
A |
C |
8: 95,295,237 (GRCm39) |
I441L |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,952 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhodh |
G |
T |
8: 110,322,734 (GRCm39) |
N211K |
probably damaging |
Het |
| Dtnb |
G |
A |
12: 3,822,740 (GRCm39) |
A570T |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,836,217 (GRCm39) |
V209E |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,720,010 (GRCm39) |
V8A |
unknown |
Het |
| Ftdc1 |
T |
C |
16: 58,437,294 (GRCm39) |
R5G |
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,307,559 (GRCm39) |
S55R |
probably benign |
Het |
| Gm11011 |
G |
T |
2: 169,426,424 (GRCm39) |
P63Q |
|
Het |
| Grk5 |
T |
C |
19: 61,034,567 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gskip |
G |
A |
12: 105,665,009 (GRCm39) |
S16N |
probably benign |
Het |
| Gys1 |
C |
A |
7: 45,088,917 (GRCm39) |
N169K |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,384,503 (GRCm39) |
L208P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,878 (GRCm39) |
C568R |
probably damaging |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lrrc26 |
T |
A |
2: 25,180,344 (GRCm39) |
F115Y |
probably damaging |
Het |
| Mul1 |
T |
C |
4: 138,166,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,412,660 (GRCm39) |
L716H |
probably damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,346,106 (GRCm39) |
V414I |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,774,876 (GRCm39) |
C197* |
probably null |
Het |
| Nisch |
G |
T |
14: 30,899,331 (GRCm39) |
A438E |
unknown |
Het |
| Nsun5 |
T |
C |
5: 135,402,828 (GRCm39) |
L174P |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,903,612 (GRCm39) |
V7454E |
probably benign |
Het |
| Optn |
A |
C |
2: 5,059,451 (GRCm39) |
N22K |
probably damaging |
Het |
| Or5k15 |
C |
T |
16: 58,709,834 (GRCm39) |
V250M |
probably damaging |
Het |
| Or6d13 |
G |
A |
6: 116,517,969 (GRCm39) |
C185Y |
probably damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,047 (GRCm39) |
N248S |
probably damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,613,753 (GRCm39) |
L566R |
probably damaging |
Het |
| Pdlim5 |
C |
T |
3: 142,009,163 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,146,094 (GRCm39) |
|
probably null |
Het |
| Peak1 |
A |
T |
9: 56,165,504 (GRCm39) |
I808N |
probably benign |
Het |
| Pomt1 |
A |
C |
2: 32,142,973 (GRCm39) |
Y617S |
probably damaging |
Het |
| Ptch2 |
G |
A |
4: 116,962,297 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,302,928 (GRCm39) |
H87R |
possibly damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,016 (GRCm39) |
T333A |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,604,139 (GRCm39) |
V9A |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,507,832 (GRCm39) |
F14L |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,715,928 (GRCm39) |
M1062K |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,509 (GRCm39) |
Y262H |
probably damaging |
Het |
| Vmn2r83 |
C |
T |
10: 79,304,894 (GRCm39) |
H35Y |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
C |
T |
18: 5,772,557 (GRCm39) |
H949Y |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,636 (GRCm39) |
H447Q |
probably damaging |
Het |
| Zfp551 |
T |
C |
7: 12,151,004 (GRCm39) |
E135G |
probably damaging |
Het |
|
| Other mutations in Fbxo31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Fbxo31
|
APN |
8 |
122,281,069 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02155:Fbxo31
|
APN |
8 |
122,285,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Fbxo31
|
APN |
8 |
122,293,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03092:Fbxo31
|
APN |
8 |
122,286,757 (GRCm39) |
missense |
probably benign |
|
|
Archive
|
UTSW |
8 |
122,281,967 (GRCm39) |
missense |
probably benign |
|
|
Repository
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0377:Fbxo31
|
UTSW |
8 |
122,285,841 (GRCm39) |
unclassified |
probably benign |
|
|
R0730:Fbxo31
|
UTSW |
8 |
122,282,103 (GRCm39) |
unclassified |
probably benign |
|
|
R1132:Fbxo31
|
UTSW |
8 |
122,279,019 (GRCm39) |
frame shift |
probably null |
|
|
R1132:Fbxo31
|
UTSW |
8 |
122,279,015 (GRCm39) |
frame shift |
probably null |
|
|
R1626:Fbxo31
|
UTSW |
8 |
122,286,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Fbxo31
|
UTSW |
8 |
122,287,177 (GRCm39) |
nonsense |
probably null |
|
|
R2215:Fbxo31
|
UTSW |
8 |
122,293,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3726:Fbxo31
|
UTSW |
8 |
122,305,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3761:Fbxo31
|
UTSW |
8 |
122,287,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4646:Fbxo31
|
UTSW |
8 |
122,286,755 (GRCm39) |
missense |
probably benign |
|
|
R4782:Fbxo31
|
UTSW |
8 |
122,279,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Fbxo31
|
UTSW |
8 |
122,279,178 (GRCm39) |
nonsense |
probably null |
|
|
R5103:Fbxo31
|
UTSW |
8 |
122,279,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Fbxo31
|
UTSW |
8 |
122,305,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Fbxo31
|
UTSW |
8 |
122,305,198 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6551:Fbxo31
|
UTSW |
8 |
122,291,443 (GRCm39) |
intron |
probably benign |
|
|
R7027:Fbxo31
|
UTSW |
8 |
122,305,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Fbxo31
|
UTSW |
8 |
122,281,060 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7271:Fbxo31
|
UTSW |
8 |
122,305,503 (GRCm39) |
unclassified |
probably benign |
|
|
R7594:Fbxo31
|
UTSW |
8 |
122,279,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Fbxo31
|
UTSW |
8 |
122,291,384 (GRCm39) |
splice site |
probably null |
|
|
R8039:Fbxo31
|
UTSW |
8 |
122,285,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Fbxo31
|
UTSW |
8 |
122,287,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Fbxo31
|
UTSW |
8 |
122,287,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8726:Fbxo31
|
UTSW |
8 |
122,282,014 (GRCm39) |
nonsense |
probably null |
|
|
R8867:Fbxo31
|
UTSW |
8 |
122,281,967 (GRCm39) |
missense |
probably benign |
|
|
R9081:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9093:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9094:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9095:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9098:Fbxo31
|
UTSW |
8 |
122,281,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9667:Fbxo31
|
UTSW |
8 |
122,305,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCATAGGCGGCAAGTG -3'
(R):5'- GACCTTCAGACTCTCTTGTGAG -3'
Sequencing Primer
(F):5'- AAGTGCGGGGGTAATCCTC -3'
(R):5'- CAGACTCTCTTGTGAGACGCTGAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation