Incidental Mutation 'R3856:Fbxo40'
ID |
276184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo40
|
Ensembl Gene |
ENSMUSG00000047746 |
Gene Name |
F-box protein 40 |
Synonyms |
9830003A13Rik |
MMRRC Submission |
040902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
R3856 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36789445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 555
(L555Q)
|
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: L555Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000075266 Gene: ENSMUSG00000047746 AA Change: L555Q
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: L555Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110454 Gene: ENSMUSG00000047746 AA Change: L555Q
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 |
0.1874 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 92.4%
|
Validation Efficiency |
100% (57/57) |
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 |
Acod1 |
T |
C |
14: 103,292,882 (GRCm39) |
S469P |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,757,927 (GRCm39) |
N787I |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,723,493 (GRCm39) |
T945A |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,293,093 (GRCm39) |
I863N |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,548,019 (GRCm39) |
I891T |
probably benign |
Het |
Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,599 (GRCm39) |
T587A |
probably damaging |
Het |
Atxn7l3 |
T |
C |
11: 102,184,729 (GRCm39) |
D128G |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,611,427 (GRCm39) |
Y457C |
probably damaging |
Het |
Ccdc60 |
A |
C |
5: 116,310,514 (GRCm39) |
C183G |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
Cnst |
C |
T |
1: 179,407,279 (GRCm39) |
P109S |
probably benign |
Het |
Crtc2 |
G |
T |
3: 90,169,877 (GRCm39) |
L509F |
probably damaging |
Het |
Ctsr |
A |
T |
13: 61,309,750 (GRCm39) |
I153N |
possibly damaging |
Het |
Dffa |
A |
T |
4: 149,188,708 (GRCm39) |
M1L |
possibly damaging |
Het |
Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
Eef2k |
T |
A |
7: 120,498,594 (GRCm39) |
C91* |
probably null |
Het |
Eml5 |
T |
C |
12: 98,782,283 (GRCm39) |
D1336G |
probably damaging |
Het |
F12 |
G |
A |
13: 55,569,035 (GRCm39) |
|
probably null |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Frmpd1 |
T |
C |
4: 45,283,698 (GRCm39) |
S840P |
probably damaging |
Het |
Gadd45a |
C |
T |
6: 67,013,989 (GRCm39) |
|
probably null |
Het |
Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Gpr171 |
T |
C |
3: 59,005,506 (GRCm39) |
T90A |
probably damaging |
Het |
Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
H2-M10.6 |
T |
A |
17: 37,123,396 (GRCm39) |
I30N |
probably benign |
Het |
Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
Hspa4l |
C |
A |
3: 40,739,821 (GRCm39) |
H698Q |
probably benign |
Het |
Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
Kdm4a |
C |
T |
4: 118,010,428 (GRCm39) |
R605H |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
Or52ae7 |
T |
A |
7: 103,119,867 (GRCm39) |
V207E |
probably damaging |
Het |
Pbp2 |
A |
G |
6: 135,287,143 (GRCm39) |
L68P |
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,728,995 (GRCm39) |
T547K |
probably benign |
Het |
Ppp1r12a |
T |
C |
10: 108,089,362 (GRCm39) |
|
probably benign |
Het |
Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,124 (GRCm39) |
N203S |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
Sall3 |
G |
A |
18: 81,015,717 (GRCm39) |
T737M |
probably damaging |
Het |
Scn2b |
A |
G |
9: 45,036,759 (GRCm39) |
N89S |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
Slc13a4 |
C |
A |
6: 35,248,539 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
C |
5: 89,380,698 (GRCm39) |
S1015R |
probably benign |
Het |
Slc8a1 |
T |
C |
17: 81,955,803 (GRCm39) |
T412A |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,014,075 (GRCm39) |
D2116V |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,727,120 (GRCm39) |
F396L |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
Vmn1r189 |
A |
T |
13: 22,286,439 (GRCm39) |
F133I |
possibly damaging |
Het |
Zfp735 |
T |
C |
11: 73,602,282 (GRCm39) |
S409P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCCATTGCGAGAGGACCATC -3'
(R):5'- CCTGCACTTCAAGAATGTCCAC -3'
Sequencing Primer
(F):5'- CTCTCTTGCAACAAAGTGGC -3'
(R):5'- CTTCAAGAATGTCCACACTGAC -3'
|
Posted On |
2015-04-06 |