Incidental Mutation 'R5451:Fbxo7'
| ID |
434592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo7
|
| Ensembl Gene |
ENSMUSG00000001786 |
| Gene Name |
F-box protein 7 |
| Synonyms |
2410015K21Rik, A230052G17Rik |
| MMRRC Submission |
043016-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85857836-85887737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85864901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 51
(S51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001837]
[ENSMUST00000117597]
[ENSMUST00000120344]
[ENSMUST00000130320]
[ENSMUST00000147168]
|
| AlphaFold |
Q3U7U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001837
AA Change: S51G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786
AA Change: S51G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
40 |
7e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117597
AA Change: E68G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: E68G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI31_Prot_N
|
101 |
245 |
9.6e-31 |
PFAM |
|
Pfam:F-box
|
250 |
297 |
2.7e-6 |
PFAM |
|
Pfam:F-box-like
|
252 |
298 |
7.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120344
AA Change: E70G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI31_Prot_N
|
103 |
247 |
4.8e-31 |
PFAM |
|
Pfam:F-box
|
252 |
299 |
1.8e-6 |
PFAM |
|
Pfam:F-box-like
|
254 |
300 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130320
AA Change: E149G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: E149G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
78 |
7e-6 |
SMART |
|
Blast:UBQ
|
1 |
79 |
6e-30 |
BLAST |
|
Pfam:PI31_Prot_N
|
188 |
323 |
4.7e-20 |
PFAM |
|
Pfam:F-box
|
331 |
378 |
9.7e-6 |
PFAM |
|
Pfam:F-box-like
|
333 |
379 |
9.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147168
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (52/54) |
| 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 it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(4) Gene trapped(3)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,076 (GRCm39) |
F1142S |
possibly damaging |
Het |
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Calhm2 |
T |
A |
19: 47,121,314 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,270 (GRCm39) |
T355A |
probably damaging |
Het |
| Ccnq |
T |
A |
11: 78,642,115 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,747 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 115,612,873 (GRCm39) |
S3P |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,143,476 (GRCm39) |
G388D |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,589,256 (GRCm39) |
M447T |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,281,179 (GRCm39) |
G2747S |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,684,294 (GRCm39) |
Y660F |
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,751,868 (GRCm39) |
E140G |
probably benign |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,422,445 (GRCm39) |
L138Q |
probably damaging |
Het |
| Igflr1 |
A |
G |
7: 30,265,747 (GRCm39) |
N57S |
possibly damaging |
Het |
| Ighv13-2 |
A |
G |
12: 114,321,473 (GRCm39) |
F89L |
probably damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,928,846 (GRCm39) |
V609A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,445,850 (GRCm39) |
V233A |
probably benign |
Het |
| Lingo1 |
T |
G |
9: 56,527,711 (GRCm39) |
I293L |
probably damaging |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lsm2 |
T |
C |
17: 35,201,185 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
T |
A |
15: 79,011,104 (GRCm39) |
|
probably null |
Het |
| Mpp7 |
T |
C |
18: 7,442,855 (GRCm39) |
D156G |
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,338,939 (GRCm39) |
D822G |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,325,368 (GRCm39) |
V180A |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,409,103 (GRCm39) |
Y159* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,221 (GRCm39) |
T1290A |
probably benign |
Het |
| Or12e1 |
T |
A |
2: 87,022,796 (GRCm39) |
V255E |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,341 (GRCm39) |
I46V |
probably damaging |
Het |
| Or7g20 |
T |
C |
9: 18,946,787 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,440,720 (GRCm39) |
Y1290F |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,827 (GRCm39) |
N132D |
probably benign |
Het |
| Rfx3 |
T |
G |
19: 27,827,359 (GRCm39) |
T76P |
probably damaging |
Het |
| Rps13-ps2 |
G |
T |
7: 88,180,036 (GRCm39) |
|
noncoding transcript |
Het |
| Slc12a3 |
A |
G |
8: 95,083,655 (GRCm39) |
D894G |
possibly damaging |
Het |
| Slc25a15 |
G |
A |
8: 22,879,983 (GRCm39) |
T54I |
probably benign |
Het |
| Slco1c1 |
A |
T |
6: 141,505,604 (GRCm39) |
Q461L |
probably benign |
Het |
| Slfn5 |
T |
G |
11: 82,850,912 (GRCm39) |
I403R |
probably damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Tbc1d32 |
T |
A |
10: 56,071,571 (GRCm39) |
T318S |
possibly damaging |
Het |
| Tiam2 |
G |
T |
17: 3,479,271 (GRCm39) |
R668M |
probably damaging |
Het |
| Tle7 |
A |
T |
8: 110,836,503 (GRCm39) |
I160F |
probably damaging |
Het |
| Trgj4 |
G |
T |
13: 19,526,335 (GRCm39) |
|
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,393,603 (GRCm39) |
S114P |
probably benign |
Het |
| Trp53i11 |
T |
C |
2: 93,030,200 (GRCm39) |
L169P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r190-ps |
A |
G |
13: 22,328,901 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Fbxo7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Fbxo7
|
APN |
10 |
85,864,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01483:Fbxo7
|
APN |
10 |
85,880,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02502:Fbxo7
|
APN |
10 |
85,869,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Fbxo7
|
APN |
10 |
85,860,302 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
P0007:Fbxo7
|
UTSW |
10 |
85,869,157 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0410:Fbxo7
|
UTSW |
10 |
85,865,102 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4119:Fbxo7
|
UTSW |
10 |
85,857,759 (GRCm39) |
unclassified |
probably benign |
|
|
R4604:Fbxo7
|
UTSW |
10 |
85,882,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Fbxo7
|
UTSW |
10 |
85,865,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5088:Fbxo7
|
UTSW |
10 |
85,857,784 (GRCm39) |
unclassified |
probably benign |
|
|
R5286:Fbxo7
|
UTSW |
10 |
85,857,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Fbxo7
|
UTSW |
10 |
85,860,518 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5491:Fbxo7
|
UTSW |
10 |
85,883,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Fbxo7
|
UTSW |
10 |
85,869,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5647:Fbxo7
|
UTSW |
10 |
85,864,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6027:Fbxo7
|
UTSW |
10 |
85,883,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Fbxo7
|
UTSW |
10 |
85,860,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6280:Fbxo7
|
UTSW |
10 |
85,864,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6615:Fbxo7
|
UTSW |
10 |
85,880,398 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7405:Fbxo7
|
UTSW |
10 |
85,880,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Fbxo7
|
UTSW |
10 |
85,860,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9743:Fbxo7
|
UTSW |
10 |
85,883,773 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCCTGGAGTTATGGGACTC -3'
(R):5'- CCTGAGGAATGTAGCCTGACTC -3'
Sequencing Primer
(F):5'- CCTGGAGTTATGGGACTCAGGAC -3'
(R):5'- GAATGTAGCCTGACTCGAGCATC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation