Incidental Mutation 'IGL02619:Fbxo40'
| ID |
300765 |
| 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: 0.151)
|
| Stock # |
IGL02619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36790766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 115
(I115F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075869]
[ENSMUST00000114806]
|
| AlphaFold |
P62932 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075869
AA Change: I115F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: I115F
| 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 |
possibly damaging
Transcript: ENSMUST00000114806
AA Change: I115F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: I115F
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,620,016 (GRCm39) |
G220E |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,321,504 (GRCm39) |
I101T |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,902,298 (GRCm39) |
C4S |
probably damaging |
Het |
| Ccdc174 |
T |
A |
6: 91,876,538 (GRCm39) |
D458E |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,770,686 (GRCm39) |
N419S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,512,083 (GRCm39) |
N551S |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,580,988 (GRCm39) |
I87F |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,848,836 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
C |
A |
8: 26,236,981 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,359,094 (GRCm39) |
Y118N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,666,044 (GRCm39) |
A296V |
probably benign |
Het |
| Fkbp9 |
T |
A |
6: 56,827,609 (GRCm39) |
N143K |
probably damaging |
Het |
| Foxk2 |
G |
T |
11: 121,190,402 (GRCm39) |
|
probably benign |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,529 (GRCm39) |
K33E |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,547,530 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,162,107 (GRCm39) |
C133S |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,331,252 (GRCm39) |
A542V |
probably damaging |
Het |
| Lrch2 |
A |
C |
X: 146,263,537 (GRCm39) |
V363G |
probably damaging |
Het |
| Lrch2 |
C |
T |
X: 146,302,131 (GRCm39) |
C264Y |
probably damaging |
Het |
| Lrrc56 |
C |
A |
7: 140,787,546 (GRCm39) |
|
probably benign |
Het |
| Lrtm2 |
C |
T |
6: 119,294,199 (GRCm39) |
V311M |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,587,529 (GRCm39) |
Q470K |
probably benign |
Het |
| Naa15 |
A |
C |
3: 51,367,552 (GRCm39) |
D575A |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,969,456 (GRCm39) |
V69D |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,123,489 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,331 (GRCm39) |
D100G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,250,553 (GRCm39) |
V588M |
possibly damaging |
Het |
| Or4b13 |
G |
T |
2: 90,082,849 (GRCm39) |
T161N |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,949 (GRCm39) |
|
probably benign |
Het |
| Osmr |
C |
A |
15: 6,871,475 (GRCm39) |
R314M |
probably damaging |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,270 (GRCm39) |
Q77* |
probably null |
Het |
| Pglyrp4 |
G |
A |
3: 90,642,955 (GRCm39) |
|
probably null |
Het |
| Ptprh |
A |
G |
7: 4,552,498 (GRCm39) |
F922S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,418,673 (GRCm39) |
Q813L |
possibly damaging |
Het |
| Sgtb |
A |
G |
13: 104,254,922 (GRCm39) |
N64S |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,471,201 (GRCm39) |
V481A |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,349 (GRCm39) |
V454A |
probably benign |
Het |
| Sntg2 |
C |
A |
12: 30,317,025 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
T |
16: 90,770,933 (GRCm39) |
V499I |
probably damaging |
Het |
| Tmco1 |
T |
C |
1: 167,153,597 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
T |
C |
4: 53,848,871 (GRCm39) |
I92T |
probably damaging |
Het |
| Tmem9 |
T |
C |
1: 135,955,145 (GRCm39) |
V93A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,625,582 (GRCm39) |
R15080S |
possibly damaging |
Het |
| Ube2e3 |
T |
C |
2: 78,749,065 (GRCm39) |
I138T |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,665,752 (GRCm39) |
I862T |
possibly damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,603 (GRCm39) |
I165N |
probably benign |
Het |
| Washc4 |
G |
A |
10: 83,394,717 (GRCm39) |
V316I |
possibly damaging |
Het |
| Zfp111 |
A |
T |
7: 23,899,113 (GRCm39) |
L166Q |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,597,718 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,793 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation