Incidental Mutation 'IGL01339:Fbxo40'
ID |
74784 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxo40
|
Ensembl Gene |
ENSMUSG00000047746 |
Gene Name |
F-box protein 40 |
Synonyms |
9830003A13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
IGL01339
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36790816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 98
(E98G)
|
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: E98G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075266 Gene: ENSMUSG00000047746 AA Change: E98G
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: E98G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110454 Gene: ENSMUSG00000047746 AA Change: E98G
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 |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bahcc1 |
A |
G |
11: 120,180,338 (GRCm39) |
T2565A |
probably damaging |
Het |
C8a |
A |
C |
4: 104,685,182 (GRCm39) |
F354V |
probably benign |
Het |
Cadps |
C |
T |
14: 12,486,543 (GRCm38) |
V876M |
possibly damaging |
Het |
Chmp7 |
A |
T |
14: 69,956,855 (GRCm39) |
I351N |
probably damaging |
Het |
Clec7a |
A |
T |
6: 129,442,449 (GRCm39) |
W193R |
probably damaging |
Het |
Clint1 |
T |
C |
11: 45,799,846 (GRCm39) |
V535A |
probably benign |
Het |
Clu |
A |
G |
14: 66,213,037 (GRCm39) |
E141G |
probably damaging |
Het |
Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
Cntn2 |
A |
T |
1: 132,446,643 (GRCm39) |
|
probably null |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cyp2d10 |
C |
T |
15: 82,288,042 (GRCm39) |
A195T |
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,854,276 (GRCm39) |
K1901N |
probably damaging |
Het |
Dnai3 |
T |
C |
3: 145,748,591 (GRCm39) |
Y841C |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,433,730 (GRCm39) |
D2329N |
possibly damaging |
Het |
Eipr1 |
A |
G |
12: 28,914,770 (GRCm39) |
E308G |
probably damaging |
Het |
Exoc4 |
T |
C |
6: 33,282,335 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,246,442 (GRCm39) |
T487A |
possibly damaging |
Het |
Folh1 |
G |
A |
7: 86,375,306 (GRCm39) |
T527I |
probably damaging |
Het |
Gls |
C |
T |
1: 52,227,867 (GRCm39) |
D217N |
probably damaging |
Het |
Gm6994 |
A |
G |
14: 77,718,618 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
A |
T |
3: 62,511,718 (GRCm39) |
W94R |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,373,842 (GRCm39) |
D259G |
possibly damaging |
Het |
Hcn2 |
T |
C |
10: 79,564,902 (GRCm39) |
L438P |
probably damaging |
Het |
Hgd |
A |
C |
16: 37,452,092 (GRCm39) |
T374P |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,322,463 (GRCm39) |
|
probably null |
Het |
Kctd5 |
A |
T |
17: 24,276,749 (GRCm39) |
V172E |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,388,763 (GRCm39) |
S2221P |
unknown |
Het |
Ltk |
T |
A |
2: 119,583,455 (GRCm39) |
D310V |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,270,087 (GRCm39) |
M770K |
probably damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,781,399 (GRCm39) |
H71L |
probably benign |
Het |
Necap2 |
G |
A |
4: 140,802,276 (GRCm39) |
T63I |
probably benign |
Het |
Nefl |
A |
G |
14: 68,323,931 (GRCm39) |
|
probably benign |
Het |
Odam |
G |
A |
5: 88,033,755 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
A |
G |
3: 49,710,247 (GRCm39) |
I356T |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Pde2a |
T |
C |
7: 101,156,366 (GRCm39) |
S593P |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,655,940 (GRCm39) |
L359M |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,501,811 (GRCm39) |
|
probably null |
Het |
Rbm44 |
A |
G |
1: 91,096,686 (GRCm39) |
I976V |
probably benign |
Het |
Rdh13 |
A |
T |
7: 4,430,623 (GRCm39) |
S278R |
probably damaging |
Het |
Rgma |
A |
G |
7: 73,067,231 (GRCm39) |
E256G |
probably damaging |
Het |
Rnf112 |
A |
T |
11: 61,341,303 (GRCm39) |
D402E |
probably benign |
Het |
Rnps1 |
T |
A |
17: 24,641,273 (GRCm39) |
D224E |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,451,832 (GRCm39) |
V1364M |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,156,304 (GRCm39) |
R535H |
probably benign |
Het |
Scn8a |
A |
T |
15: 100,930,082 (GRCm39) |
D1431V |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,245,891 (GRCm39) |
L677* |
probably null |
Het |
Slc17a8 |
T |
A |
10: 89,427,106 (GRCm39) |
I148F |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,885,975 (GRCm39) |
C98* |
probably null |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Tcof1 |
T |
C |
18: 60,951,167 (GRCm39) |
|
probably benign |
Het |
Tdrd3 |
G |
A |
14: 87,718,230 (GRCm39) |
V210I |
possibly damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Tmod4 |
G |
A |
3: 95,035,608 (GRCm39) |
R252H |
probably benign |
Het |
Tti1 |
G |
T |
2: 157,851,050 (GRCm39) |
P63Q |
possibly damaging |
Het |
Tuft1 |
A |
T |
3: 94,535,594 (GRCm39) |
D109E |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,957,505 (GRCm39) |
S659P |
probably damaging |
Het |
|
Other mutations in Fbxo40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-10-07 |