Incidental Mutation 'R5808:Fbxo40'
| ID |
448866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo40
|
| Ensembl Gene |
ENSMUSG00000047746 |
| Gene Name |
F-box protein 40 |
| Synonyms |
9830003A13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R5808 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36790744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 122
(E122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075869]
[ENSMUST00000114806]
|
| AlphaFold |
P62932 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075869
AA Change: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: E122G
| 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 damaging
Transcript: ENSMUST00000114806
AA Change: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: E122G
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,286,482 (GRCm39) |
R6W |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,599 (GRCm39) |
V2961E |
possibly damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,685,561 (GRCm39) |
Y330N |
possibly damaging |
Het |
| Bag6 |
A |
G |
17: 35,365,298 (GRCm39) |
Y1041C |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,250,812 (GRCm39) |
V866E |
probably benign |
Het |
| Bmpr2 |
A |
T |
1: 59,906,560 (GRCm39) |
Y551F |
probably benign |
Het |
| Cage1 |
A |
G |
13: 38,206,301 (GRCm39) |
|
probably benign |
Het |
| Caskin2 |
G |
T |
11: 115,692,589 (GRCm39) |
P732Q |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,746 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,531,500 (GRCm39) |
M502K |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,657 (GRCm39) |
D197G |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,847 (GRCm39) |
S237T |
probably benign |
Het |
| Defb40 |
T |
C |
8: 19,025,095 (GRCm39) |
H37R |
probably benign |
Het |
| Dis3l2 |
A |
C |
1: 86,977,360 (GRCm39) |
S836R |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,568,724 (GRCm39) |
I2818T |
possibly damaging |
Het |
| Dpysl2 |
T |
A |
14: 67,102,621 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
T |
18: 20,219,886 (GRCm39) |
C761* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,782 (GRCm39) |
D763V |
probably damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,820,812 (GRCm39) |
P251L |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,503,105 (GRCm39) |
I934K |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,725,983 (GRCm39) |
G879R |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,559,984 (GRCm39) |
F1508I |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,594 (GRCm39) |
N318D |
probably benign |
Het |
| Gm11564 |
T |
C |
11: 99,705,867 (GRCm39) |
S188G |
unknown |
Het |
| Hlcs |
A |
G |
16: 94,063,491 (GRCm39) |
V523A |
probably benign |
Het |
| Kif1a |
C |
A |
1: 92,970,420 (GRCm39) |
E1041D |
probably damaging |
Het |
| Lamtor1 |
A |
G |
7: 101,559,289 (GRCm39) |
Y81C |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,201,732 (GRCm39) |
L453S |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,043,937 (GRCm39) |
M1V |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,119 (GRCm39) |
Q1208R |
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,633,781 (GRCm39) |
I631N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,360 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,406,428 (GRCm39) |
S139G |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,720,127 (GRCm39) |
F1017L |
probably benign |
Het |
| Nup62 |
A |
C |
7: 44,479,416 (GRCm39) |
Q477P |
possibly damaging |
Het |
| P2ry13 |
T |
A |
3: 59,117,653 (GRCm39) |
I42F |
probably benign |
Het |
| Ptprb |
G |
A |
10: 116,175,392 (GRCm39) |
R1129K |
probably benign |
Het |
| Rexo4 |
T |
A |
2: 26,854,197 (GRCm39) |
K45I |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,327,121 (GRCm39) |
V1703I |
probably benign |
Het |
| Sec23ip |
C |
A |
7: 128,373,908 (GRCm39) |
A710E |
probably benign |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,362 (GRCm39) |
T194A |
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,080,816 (GRCm39) |
A348T |
probably damaging |
Het |
| Soat2 |
G |
A |
15: 102,062,460 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,850,548 (GRCm39) |
S204G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,229,810 (GRCm39) |
R2774C |
unknown |
Het |
| Tcf7l2 |
T |
C |
19: 55,896,973 (GRCm39) |
V182A |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,559 (GRCm39) |
R29H |
probably benign |
Het |
| Trappc12 |
T |
A |
12: 28,796,863 (GRCm39) |
D223V |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,664,397 (GRCm39) |
S383R |
possibly damaging |
Het |
| Ubr1 |
C |
T |
2: 120,791,573 (GRCm39) |
R137H |
possibly damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,597 (GRCm39) |
C641* |
probably null |
Het |
| Vrk3 |
A |
G |
7: 44,409,298 (GRCm39) |
D155G |
probably damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,869,503 (GRCm39) |
Y199C |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,065,363 (GRCm39) |
D262E |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,948,766 (GRCm39) |
S58T |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,984,085 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,631,563 (GRCm39) |
L1344* |
probably null |
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 |
|
R4346:Fbxo40
|
UTSW |
16 |
36,790,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CTGACTGAGCTCCATCATTTGC -3'
(R):5'- CCTCAACTCTGAGTATGGCTG -3'
Sequencing Primer
(F):5'- ACAAGAATTTGGTGCTAGCCTG -3'
(R):5'- AGTATGGCTGCCCGCTCTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation