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 |
Incidental Mutation