Incidental Mutation 'R3883:Fbxo22'
| ID |
308826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo22
|
| Ensembl Gene |
ENSMUSG00000032309 |
| Gene Name |
F-box protein 22 |
| Synonyms |
0610033L19Rik, 1600016C16Rik |
| MMRRC Submission |
040796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55116219-55131717 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55130546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 169
(T169S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034859]
[ENSMUST00000130158]
[ENSMUST00000133795]
[ENSMUST00000135531]
[ENSMUST00000137675]
[ENSMUST00000146201]
[ENSMUST00000145784]
[ENSMUST00000164721]
[ENSMUST00000140375]
[ENSMUST00000153970]
|
| AlphaFold |
Q78JE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034859
AA Change: T272S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309
AA Change: T272S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
22 |
66 |
1.7e-6 |
PFAM |
|
FIST_C
|
231 |
365 |
2.61e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130158
|
| SMART Domains |
Protein: ENSMUSP00000115247
Gene: ENSMUSG00000032311
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
8 |
46 |
4.78e-3 |
SMART |
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146201
AA Change: T169S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309
AA Change: T169S
| Domain | Start | End | E-Value | Type |
|---|
|
FIST_C
|
128 |
262 |
2.61e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145784
|
| SMART Domains |
Protein: ENSMUSP00000115851
Gene: ENSMUSG00000032311
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF
|
8 |
35 |
9e-13 |
BLAST |
|
SCOP:d1jl9a_
|
9 |
35 |
6e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164721
|
| SMART Domains |
Protein: ENSMUSP00000130929
Gene: ENSMUSG00000032311
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
8 |
46 |
4.78e-3 |
SMART |
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140375
|
| SMART Domains |
Protein: ENSMUSP00000117341
Gene: ENSMUSG00000032309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
21 |
66 |
3e-8 |
PFAM |
|
Pfam:F-box-like
|
26 |
66 |
4.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153970
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (45/46) |
| 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. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
C |
T |
8: 46,980,228 (GRCm39) |
S423L |
probably benign |
Het |
| Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,052 (GRCm39) |
M343K |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
| Cdk17 |
T |
C |
10: 93,047,939 (GRCm39) |
|
probably null |
Het |
| Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,004,421 (GRCm39) |
W261R |
unknown |
Het |
| Dchs1 |
A |
G |
7: 105,411,770 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Ddx42 |
T |
A |
11: 106,138,518 (GRCm39) |
N772K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,942,188 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,455,382 (GRCm39) |
F4L |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,258 (GRCm39) |
D267G |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,072,940 (GRCm39) |
N144D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,864 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10220 |
A |
C |
5: 26,321,908 (GRCm39) |
S255A |
possibly damaging |
Het |
| Gm15446 |
G |
T |
5: 110,088,313 (GRCm39) |
V9L |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,676,200 (GRCm39) |
L1011P |
probably damaging |
Het |
| Kif4-ps |
G |
T |
12: 101,112,473 (GRCm39) |
V201L |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
| Lgsn |
C |
A |
1: 31,215,540 (GRCm39) |
D3E |
probably benign |
Het |
| Mavs |
T |
C |
2: 131,087,218 (GRCm39) |
S239P |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,219,322 (GRCm39) |
V667D |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,707 (GRCm39) |
Y403C |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,389,894 (GRCm39) |
S190P |
probably damaging |
Het |
| Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,420 (GRCm39) |
I133V |
probably benign |
Het |
| Or13p5 |
T |
C |
4: 118,591,882 (GRCm39) |
I52T |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,620,504 (GRCm39) |
K1632E |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,419,832 (GRCm39) |
S21P |
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,616,417 (GRCm39) |
F82L |
probably damaging |
Het |
| Reep6 |
G |
A |
10: 80,171,369 (GRCm39) |
R415Q |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,926,302 (GRCm39) |
V159A |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,738,325 (GRCm39) |
M196K |
possibly damaging |
Het |
| Sprr1a |
G |
A |
3: 92,391,827 (GRCm39) |
P58L |
probably damaging |
Het |
| Taf1a |
A |
T |
1: 183,172,288 (GRCm39) |
T10S |
possibly damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,232 (GRCm39) |
V479E |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 187,995,579 (GRCm39) |
Y117H |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,914 (GRCm39) |
L243* |
probably null |
Het |
| Zbtb32 |
A |
G |
7: 30,290,569 (GRCm39) |
I242T |
probably benign |
Het |
| Zbtb7a |
T |
C |
10: 80,983,859 (GRCm39) |
C434R |
probably damaging |
Het |
|
| Other mutations in Fbxo22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4342:Fbxo22
|
UTSW |
9 |
55,128,354 (GRCm39) |
splice site |
probably null |
|
|
FR4737:Fbxo22
|
UTSW |
9 |
55,116,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Fbxo22
|
UTSW |
9 |
55,130,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Fbxo22
|
UTSW |
9 |
55,130,910 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0634:Fbxo22
|
UTSW |
9 |
55,122,244 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0694:Fbxo22
|
UTSW |
9 |
55,128,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1799:Fbxo22
|
UTSW |
9 |
55,130,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1958:Fbxo22
|
UTSW |
9 |
55,116,626 (GRCm39) |
splice site |
probably null |
|
|
R2060:Fbxo22
|
UTSW |
9 |
55,125,667 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2850:Fbxo22
|
UTSW |
9 |
55,130,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Fbxo22
|
UTSW |
9 |
55,128,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Fbxo22
|
UTSW |
9 |
55,125,596 (GRCm39) |
splice site |
probably null |
|
|
R7260:Fbxo22
|
UTSW |
9 |
55,125,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Fbxo22
|
UTSW |
9 |
55,122,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7838:Fbxo22
|
UTSW |
9 |
55,125,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Fbxo22
|
UTSW |
9 |
55,125,637 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8313:Fbxo22
|
UTSW |
9 |
55,128,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Fbxo22
|
UTSW |
9 |
55,121,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Fbxo22
|
UTSW |
9 |
55,116,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Fbxo22
|
UTSW |
9 |
55,130,628 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAAAGGGCAGCTGCTTG -3'
(R):5'- ATGCATCAGCTTCAACATTCC -3'
Sequencing Primer
(F):5'- AGCTTAGGTTGCCAAAGG -3'
(R):5'- CTCTGTAGTACTGAAAGCCTCGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation