Incidental Mutation 'R6670:Fbxw9'
ID |
527098 |
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 |
044790-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6670 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85786748-85793750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85788839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 196
(N196K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092845
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093360]
[ENSMUST00000095220]
[ENSMUST00000166592]
|
AlphaFold |
F8VPX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093360
|
SMART Domains |
Protein: ENSMUSP00000091051 Gene: ENSMUSG00000031691
Domain | Start | End | E-Value | Type |
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
408 |
462 |
1.2e-13 |
PFAM |
Pfam:HEAT
|
436 |
466 |
2.8e-6 |
PFAM |
Pfam:HEAT
|
665 |
695 |
6.4e-6 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095220
AA Change: N196K
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092845 Gene: ENSMUSG00000008167 AA Change: N196K
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 |
probably benign
Transcript: ENSMUST00000166592
|
SMART Domains |
Protein: ENSMUSP00000133076 Gene: ENSMUSG00000031691
Domain | Start | End | E-Value | Type |
IBN_N
|
31 |
99 |
5.72e-6 |
SMART |
low complexity region
|
348 |
369 |
N/A |
INTRINSIC |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
408 |
462 |
2.7e-15 |
PFAM |
Pfam:HEAT
|
436 |
466 |
2.7e-6 |
PFAM |
Pfam:HEAT
|
665 |
695 |
2.1e-5 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156084
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152884
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
100% (38/38) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
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 |
R0535:Fbxw9
|
UTSW |
8 |
85,791,229 (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 |
|
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'- GAACCGAGTACTTCTGCCTG -3'
(R):5'- TCAAGAGTTATACCAACAGTAGAGG -3'
Sequencing Primer
(F):5'- AGTACTTCTGCCTGGCTGATG -3'
(R):5'- GGTAGAGTCGAGTCTATGCAATC -3'
|
Posted On |
2018-07-23 |