Incidental Mutation 'R5647:Fbxo7'
| ID |
441229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo7
|
| Ensembl Gene |
ENSMUSG00000001786 |
| Gene Name |
F-box protein 7 |
| Synonyms |
2410015K21Rik, A230052G17Rik |
| MMRRC Submission |
043295-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85857836-85887737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85864974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 94
(E94D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001837]
[ENSMUST00000117597]
[ENSMUST00000120344]
[ENSMUST00000130320]
[ENSMUST00000147168]
|
| AlphaFold |
Q3U7U3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001837
|
| SMART Domains |
Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
1 |
40 |
7e-10 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117597
AA Change: E92D
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: E92D
| 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 damaging
Transcript: ENSMUST00000120344
AA Change: E94D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: E94D
| 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 |
possibly damaging
Transcript: ENSMUST00000130320
AA Change: E173D
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: E173D
| 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 |
0.2355 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
95% (55/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
C |
7: 82,505,606 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
A |
T |
10: 29,101,250 (GRCm39) |
D541V |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,218,597 (GRCm39) |
I262V |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,185,976 (GRCm39) |
D169V |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,803,889 (GRCm39) |
V6A |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,731,210 (GRCm39) |
S601P |
possibly damaging |
Het |
| Cd36 |
A |
C |
5: 18,019,763 (GRCm39) |
S113A |
probably damaging |
Het |
| Cdt1 |
G |
T |
8: 123,296,947 (GRCm39) |
R247L |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,872,712 (GRCm39) |
V322M |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,364,266 (GRCm39) |
T157S |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,010 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
G |
T |
7: 110,654,751 (GRCm39) |
R1094L |
unknown |
Het |
| Cyld |
A |
T |
8: 89,461,554 (GRCm39) |
I664L |
probably benign |
Het |
| Dvl2 |
C |
T |
11: 69,900,275 (GRCm39) |
P690S |
possibly damaging |
Het |
| Fstl5 |
A |
C |
3: 76,496,399 (GRCm39) |
K387N |
probably damaging |
Het |
| Gm9845 |
A |
C |
3: 39,412,520 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
T |
C |
10: 62,111,523 (GRCm39) |
D746G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,468,391 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,350,258 (GRCm39) |
A705T |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,508,300 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,952,067 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
A |
11: 115,762,337 (GRCm39) |
L1219Q |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
G |
T |
2: 111,137,392 (GRCm39) |
A281S |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,553 (GRCm39) |
I32N |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,541 (GRCm39) |
V183A |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,221,675 (GRCm39) |
T1984A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,588 (GRCm39) |
L251P |
probably benign |
Het |
| Plin1 |
T |
A |
7: 79,371,320 (GRCm39) |
D468V |
probably benign |
Het |
| Pmp2 |
A |
G |
3: 10,248,845 (GRCm39) |
V12A |
probably benign |
Het |
| Rnf19a |
T |
A |
15: 36,266,109 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,344 (GRCm39) |
Q469* |
probably null |
Het |
| Rrp1b |
T |
G |
17: 32,274,985 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,113 (GRCm39) |
R242Q |
unknown |
Het |
| Sema3e |
A |
T |
5: 14,275,567 (GRCm39) |
E224V |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,385,720 (GRCm39) |
S5P |
probably damaging |
Het |
| Stab1 |
A |
C |
14: 30,879,397 (GRCm39) |
Y694* |
probably null |
Het |
| Stambpl1 |
T |
C |
19: 34,211,686 (GRCm39) |
L249P |
probably benign |
Het |
| Thap4 |
A |
T |
1: 93,642,665 (GRCm39) |
H515Q |
probably damaging |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,779,380 (GRCm39) |
R1256G |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,489,881 (GRCm39) |
N348Y |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,314 (GRCm39) |
I85T |
probably benign |
Het |
| Vps9d1 |
A |
T |
8: 123,975,598 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,809,694 (GRCm39) |
I153N |
probably damaging |
Het |
| Zfp207 |
G |
A |
11: 80,283,959 (GRCm39) |
S293N |
possibly damaging |
Het |
| Zfp346 |
A |
G |
13: 55,270,170 (GRCm39) |
D198G |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,536 (GRCm39) |
C139S |
possibly damaging |
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 |
|
R5451:Fbxo7
|
UTSW |
10 |
85,864,901 (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 |
|
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'- GCACTAATCTCTGCTCAGTTTAGG -3'
(R):5'- TGTGAAGTACCCAGGGAGAC -3'
Sequencing Primer
(F):5'- TGCTCAGTTTAGGTTATAAAATGTCC -3'
(R):5'- CTCAGAGGTTCAGAGATTCAGTCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation