Incidental Mutation 'R5167:Fbxo28'
| ID |
397336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo28
|
| Ensembl Gene |
ENSMUSG00000047539 |
| Gene Name |
F-box protein 28 |
| Synonyms |
5730505P19Rik, D1Ertd578e, Fbx28, 4833428J17Rik |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.789)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182140667-182169171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 182145558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 177
(I177V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051431]
[ENSMUST00000192544]
[ENSMUST00000194213]
[ENSMUST00000195061]
|
| AlphaFold |
Q8BIG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051431
AA Change: I177V
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000054718
Gene: ENSMUSG00000047539
AA Change: I177V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
63 |
94 |
7.8e-6 |
PFAM |
|
coiled coil region
|
273 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192544
|
| SMART Domains |
Protein: ENSMUSP00000141838
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
62 |
101 |
8.7e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194213
|
| SMART Domains |
Protein: ENSMUSP00000141219
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
55 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
63 |
101 |
2e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195061
|
| SMART Domains |
Protein: ENSMUSP00000141772
Gene: ENSMUSG00000047539
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
49 |
N/A |
INTRINSIC |
|
Pfam:F-box
|
56 |
95 |
1.1e-5 |
PFAM |
|
| Meta Mutation Damage Score |
0.0907 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly damaging |
Het |
|
| Other mutations in Fbxo28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Fbxo28
|
APN |
1 |
182,144,577 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02936:Fbxo28
|
APN |
1 |
182,169,093 (GRCm39) |
missense |
unknown |
|
|
IGL03269:Fbxo28
|
APN |
1 |
182,144,583 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0040:Fbxo28
|
UTSW |
1 |
182,153,805 (GRCm39) |
intron |
probably benign |
|
|
R0394:Fbxo28
|
UTSW |
1 |
182,144,580 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1800:Fbxo28
|
UTSW |
1 |
182,169,099 (GRCm39) |
missense |
unknown |
|
|
R1846:Fbxo28
|
UTSW |
1 |
182,153,845 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1891:Fbxo28
|
UTSW |
1 |
182,145,389 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2113:Fbxo28
|
UTSW |
1 |
182,157,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2698:Fbxo28
|
UTSW |
1 |
182,144,719 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4022:Fbxo28
|
UTSW |
1 |
182,157,475 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4952:Fbxo28
|
UTSW |
1 |
182,153,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Fbxo28
|
UTSW |
1 |
182,157,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6233:Fbxo28
|
UTSW |
1 |
182,169,073 (GRCm39) |
missense |
unknown |
|
|
R6920:Fbxo28
|
UTSW |
1 |
182,168,986 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6935:Fbxo28
|
UTSW |
1 |
182,169,025 (GRCm39) |
missense |
unknown |
|
|
R7557:Fbxo28
|
UTSW |
1 |
182,169,000 (GRCm39) |
missense |
unknown |
|
|
R8906:Fbxo28
|
UTSW |
1 |
182,144,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9183:Fbxo28
|
UTSW |
1 |
182,157,526 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9245:Fbxo28
|
UTSW |
1 |
182,145,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Fbxo28
|
UTSW |
1 |
182,145,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCATGAGTCTTCCTGAC -3'
(R):5'- CTTTAGCACAGTACCCTGGAAC -3'
Sequencing Primer
(F):5'- GACACATCTGATCCTGGCAATTTC -3'
(R):5'- GCAACTCTAAGATGGTAGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation