Incidental Mutation 'R4346:Fbxo40'
| ID |
324343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo40
|
| Ensembl Gene |
ENSMUSG00000047746 |
| Gene Name |
F-box protein 40 |
| Synonyms |
9830003A13Rik |
| MMRRC Submission |
041667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R4346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36790525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 195
(E195G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075869]
[ENSMUST00000114806]
|
| AlphaFold |
P62932 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075869
AA Change: E195G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: E195G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRAF_2
|
12 |
104 |
6.1e-42 |
PFAM |
|
Pfam:F-box_4
|
571 |
686 |
1.2e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114806
AA Change: E195G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: E195G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YRE|A
|
12 |
92 |
1e-27 |
PDB |
|
SCOP:d1k2fa_
|
62 |
97 |
5e-4 |
SMART |
|
Blast:FBOX
|
578 |
616 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132511
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| 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 FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
G |
A |
2: 154,887,651 (GRCm39) |
R37Q |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,583,264 (GRCm39) |
T128A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,072 (GRCm39) |
Q1763L |
possibly damaging |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,263,759 (GRCm39) |
C730* |
probably null |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,571,337 (GRCm39) |
V204A |
probably benign |
Het |
| Igkv8-28 |
C |
T |
6: 70,121,096 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,988,357 (GRCm39) |
M308T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,806 (GRCm39) |
N874S |
probably benign |
Het |
| Med12l |
A |
T |
3: 58,938,976 (GRCm39) |
T37S |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,251,357 (GRCm39) |
Y57C |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,651,592 (GRCm39) |
T8A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,954,941 (GRCm39) |
V607A |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,095,478 (GRCm39) |
D409G |
probably damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,580 (GRCm39) |
T93I |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,044,705 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,878 (GRCm39) |
V29M |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,304,692 (GRCm39) |
I221V |
probably benign |
Het |
| Tnfrsf19 |
C |
A |
14: 61,209,429 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
T |
C |
2: 35,674,130 (GRCm39) |
N599S |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,638,926 (GRCm39) |
I13919L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,577,537 (GRCm39) |
F334L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,799,099 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,478,681 (GRCm39) |
Y286C |
probably damaging |
Het |
|
| Other mutations in Fbxo40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Fbxo40
|
APN |
16 |
36,790,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Fbxo40
|
APN |
16 |
36,789,536 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02389:Fbxo40
|
APN |
16 |
36,790,136 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02619:Fbxo40
|
APN |
16 |
36,790,766 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02620:Fbxo40
|
APN |
16 |
36,786,442 (GRCm39) |
missense |
probably benign |
0.14 |
|
leuk
|
UTSW |
16 |
36,789,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Fbxo40
|
UTSW |
16 |
36,789,984 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1016:Fbxo40
|
UTSW |
16 |
36,789,539 (GRCm39) |
nonsense |
probably null |
|
|
R1783:Fbxo40
|
UTSW |
16 |
36,786,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1832:Fbxo40
|
UTSW |
16 |
36,789,218 (GRCm39) |
nonsense |
probably null |
|
|
R1938:Fbxo40
|
UTSW |
16 |
36,789,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1974:Fbxo40
|
UTSW |
16 |
36,790,303 (GRCm39) |
missense |
probably benign |
|
|
R1995:Fbxo40
|
UTSW |
16 |
36,790,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Fbxo40
|
UTSW |
16 |
36,789,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Fbxo40
|
UTSW |
16 |
36,790,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5059:Fbxo40
|
UTSW |
16 |
36,790,658 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5114:Fbxo40
|
UTSW |
16 |
36,789,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Fbxo40
|
UTSW |
16 |
36,789,914 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5721:Fbxo40
|
UTSW |
16 |
36,789,296 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5724:Fbxo40
|
UTSW |
16 |
36,790,692 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5808:Fbxo40
|
UTSW |
16 |
36,790,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Fbxo40
|
UTSW |
16 |
36,786,526 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6461:Fbxo40
|
UTSW |
16 |
36,790,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6571:Fbxo40
|
UTSW |
16 |
36,789,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6598:Fbxo40
|
UTSW |
16 |
36,789,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6639:Fbxo40
|
UTSW |
16 |
36,790,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Fbxo40
|
UTSW |
16 |
36,790,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Fbxo40
|
UTSW |
16 |
36,789,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Fbxo40
|
UTSW |
16 |
36,790,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Fbxo40
|
UTSW |
16 |
36,790,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Fbxo40
|
UTSW |
16 |
36,790,387 (GRCm39) |
missense |
probably benign |
|
|
R8297:Fbxo40
|
UTSW |
16 |
36,789,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8397:Fbxo40
|
UTSW |
16 |
36,790,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8423:Fbxo40
|
UTSW |
16 |
36,790,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Fbxo40
|
UTSW |
16 |
36,791,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Fbxo40
|
UTSW |
16 |
36,791,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9088:Fbxo40
|
UTSW |
16 |
36,790,150 (GRCm39) |
missense |
|
|
|
R9119:Fbxo40
|
UTSW |
16 |
36,786,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9278:Fbxo40
|
UTSW |
16 |
36,789,940 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9339:Fbxo40
|
UTSW |
16 |
36,789,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Fbxo40
|
UTSW |
16 |
36,789,663 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:Fbxo40
|
UTSW |
16 |
36,789,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fbxo40
|
UTSW |
16 |
36,790,624 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACATTACTGGAGCACTGC -3'
(R):5'- CCAGTGAGGAGTGTTTGGAC -3'
Sequencing Primer
(F):5'- AGCACTGCTCTTTCCCAGC -3'
(R):5'- TGTTTGGACACAGCCCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation