Incidental Mutation 'R0535:Fbxw9'
| ID |
49418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw9
|
| Ensembl Gene |
ENSMUSG00000008167 |
| Gene Name |
F-box and WD-40 domain protein 9 |
| Synonyms |
Fbw9, 1110017H11Rik |
| MMRRC Submission |
038727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0535 (G1)
|
| Quality Score |
110 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85786748-85793750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85791229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 271
(C271R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095220]
[ENSMUST00000177563]
|
| AlphaFold |
F8VPX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095220
AA Change: C271R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092845
Gene: ENSMUSG00000008167
AA Change: C271R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
FBOX
|
82 |
123 |
7.47e-4 |
SMART |
|
WD40
|
161 |
201 |
2.98e-1 |
SMART |
|
WD40
|
210 |
252 |
4.55e-3 |
SMART |
|
WD40
|
256 |
292 |
7.8e-2 |
SMART |
|
WD40
|
296 |
333 |
1.03e0 |
SMART |
|
WD40
|
377 |
415 |
2.57e0 |
SMART |
|
Blast:WD40
|
419 |
455 |
8e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183657
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177563
|
| SMART Domains |
Protein: ENSMUSP00000136655
Gene: ENSMUSG00000095845
| Domain | Start | End | E-Value | Type |
|---|
|
G_gamma
|
7 |
72 |
2.19e-22 |
SMART |
|
GGL
|
11 |
72 |
6.32e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.7662 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (52/54) |
| 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 FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,019 (GRCm39) |
S1069P |
probably benign |
Het |
| Acmsd |
A |
T |
1: 127,693,680 (GRCm39) |
I305L |
probably benign |
Het |
| Aco2 |
G |
A |
15: 81,797,418 (GRCm39) |
E625K |
possibly damaging |
Het |
| Acox1 |
G |
A |
11: 116,065,264 (GRCm39) |
T561I |
possibly damaging |
Het |
| Acox2 |
T |
A |
14: 8,256,753 (GRCm38) |
T37S |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,394,125 (GRCm39) |
K17M |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,301,969 (GRCm39) |
D116G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Cyp51 |
T |
C |
5: 4,149,202 (GRCm39) |
Q225R |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,521,558 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
T |
C |
2: 27,002,778 (GRCm39) |
Y73C |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,368,877 (GRCm39) |
N321D |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,847,817 (GRCm39) |
F675L |
probably damaging |
Het |
| Gm6327 |
T |
C |
16: 12,578,241 (GRCm39) |
|
noncoding transcript |
Het |
| Gphn |
T |
A |
12: 78,538,824 (GRCm39) |
F157I |
possibly damaging |
Het |
| Gtpbp1 |
A |
T |
15: 79,591,933 (GRCm39) |
T94S |
probably damaging |
Het |
| Hdac2 |
T |
C |
10: 36,869,895 (GRCm39) |
F286L |
probably benign |
Het |
| Ighv3-6 |
A |
T |
12: 114,252,090 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
G |
11: 102,348,359 (GRCm39) |
V791A |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,881,835 (GRCm39) |
I796F |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,667,772 (GRCm39) |
K390R |
probably null |
Het |
| Krt42 |
C |
T |
11: 100,155,412 (GRCm39) |
C368Y |
probably damaging |
Het |
| Lancl1 |
A |
G |
1: 67,049,065 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,087,291 (GRCm39) |
Y177H |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,791,935 (GRCm39) |
E402G |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,837,826 (GRCm39) |
F1185L |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,831,632 (GRCm39) |
I1727N |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,210 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,209 (GRCm39) |
E847G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,828,413 (GRCm39) |
G275E |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,329,488 (GRCm39) |
T278S |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,721,941 (GRCm39) |
S961T |
probably damaging |
Het |
| Or5ak22 |
A |
G |
2: 85,230,439 (GRCm39) |
L146P |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,059,434 (GRCm39) |
V81A |
probably benign |
Het |
| Phf2 |
A |
G |
13: 48,967,423 (GRCm39) |
Y675H |
unknown |
Het |
| Phldb2 |
A |
G |
16: 45,577,490 (GRCm39) |
V1145A |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,978 (GRCm39) |
S1058P |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,351,903 (GRCm39) |
N120S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,256,274 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,554 (GRCm39) |
Y287C |
probably benign |
Het |
| Syde2 |
G |
A |
3: 145,694,925 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
A |
16: 90,744,975 (GRCm39) |
V1190F |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,444,530 (GRCm39) |
I515N |
probably benign |
Het |
| Tmem259 |
A |
T |
10: 79,814,429 (GRCm39) |
V309E |
probably damaging |
Het |
| Tmem62 |
T |
A |
2: 120,833,077 (GRCm39) |
V494E |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,272,778 (GRCm39) |
E119V |
probably null |
Het |
| Vmn1r1 |
T |
A |
1: 181,985,516 (GRCm39) |
I50L |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,347,404 (GRCm39) |
F118S |
possibly damaging |
Het |
| Xpc |
C |
T |
6: 91,481,560 (GRCm39) |
V254I |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,640,201 (GRCm39) |
Q97* |
probably null |
Het |
| Zscan5b |
A |
G |
7: 6,236,911 (GRCm39) |
E220G |
possibly damaging |
Het |
|
| Other mutations in Fbxw9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00541:Fbxw9
|
APN |
8 |
85,793,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01108:Fbxw9
|
APN |
8 |
85,792,606 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01633:Fbxw9
|
APN |
8 |
85,791,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Fbxw9
|
APN |
8 |
85,792,682 (GRCm39) |
splice site |
probably null |
|
|
R0053:Fbxw9
|
UTSW |
8 |
85,791,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Fbxw9
|
UTSW |
8 |
85,791,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:Fbxw9
|
UTSW |
8 |
85,788,658 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1171:Fbxw9
|
UTSW |
8 |
85,792,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2371:Fbxw9
|
UTSW |
8 |
85,788,658 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4472:Fbxw9
|
UTSW |
8 |
85,786,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Fbxw9
|
UTSW |
8 |
85,792,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Fbxw9
|
UTSW |
8 |
85,786,785 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5236:Fbxw9
|
UTSW |
8 |
85,792,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5771:Fbxw9
|
UTSW |
8 |
85,791,201 (GRCm39) |
splice site |
probably null |
|
|
R6670:Fbxw9
|
UTSW |
8 |
85,788,839 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6861:Fbxw9
|
UTSW |
8 |
85,792,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7354:Fbxw9
|
UTSW |
8 |
85,788,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Fbxw9
|
UTSW |
8 |
85,788,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9776:Fbxw9
|
UTSW |
8 |
85,792,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGGGACAGCACTGTGAAGC -3'
(R):5'- ACAGGTTTATGCCATCCACCAATGAC -3'
Sequencing Primer
(F):5'- CACTGTGAAGCTGTGGGAC -3'
(R):5'- tgtttcctttcttttgttttttgttg -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation