Incidental Mutation 'R9088:Fbxo40'
| ID |
690784 |
| 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: 0.142)
|
| Stock # |
R9088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36790150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 320
(I320T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075869]
[ENSMUST00000114806]
|
| AlphaFold |
P62932 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: I320T
| 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: I320T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: I320T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,282,870 (GRCm39) |
Y1212C |
|
Het |
| Asah2 |
T |
C |
19: 32,030,360 (GRCm39) |
Q104R |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,158,295 (GRCm39) |
R9* |
probably null |
Het |
| Bpifa3 |
A |
C |
2: 153,975,685 (GRCm39) |
N85T |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,792,956 (GRCm39) |
Y354H |
probably damaging |
Het |
| Caln1 |
A |
T |
5: 130,443,617 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,321,451 (GRCm39) |
F378L |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,281,806 (GRCm39) |
H125R |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,882 (GRCm39) |
E258K |
probably damaging |
Het |
| Cep295 |
C |
A |
9: 15,233,815 (GRCm39) |
R2327L |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,226,923 (GRCm39) |
D224E |
unknown |
Het |
| Col16a1 |
T |
A |
4: 129,971,016 (GRCm39) |
S938T |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,493,227 (GRCm39) |
E1340G |
possibly damaging |
Het |
| Col6a6 |
C |
T |
9: 105,661,276 (GRCm39) |
V278M |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,799,890 (GRCm39) |
L41Q |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,436,867 (GRCm39) |
D50V |
possibly damaging |
Het |
| Ddx56 |
C |
T |
11: 6,209,612 (GRCm39) |
A500T |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,418 (GRCm39) |
V1713A |
unknown |
Het |
| Dnah1 |
T |
C |
14: 30,987,970 (GRCm39) |
I3483V |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,737,594 (GRCm39) |
F402I |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,768,424 (GRCm39) |
H754Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,890 (GRCm39) |
Y576H |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,448 (GRCm39) |
S4344P |
probably benign |
Het |
| Fbxw22 |
C |
T |
9: 109,207,952 (GRCm39) |
D440N |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,583,913 (GRCm39) |
E109G |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,240,766 (GRCm39) |
D214V |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,995 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,762 (GRCm39) |
K69E |
unknown |
Het |
| Lrrc8e |
G |
A |
8: 4,284,410 (GRCm39) |
V212M |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,773 (GRCm39) |
S888C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,715 (GRCm39) |
G920* |
probably null |
Het |
| Mlkl |
G |
T |
8: 112,049,365 (GRCm39) |
R253S |
|
Het |
| Mmachc |
T |
A |
4: 116,561,829 (GRCm39) |
I102F |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,880 (GRCm39) |
V504L |
unknown |
Het |
| Mup14 |
C |
T |
4: 61,258,496 (GRCm39) |
G96D |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,242,885 (GRCm39) |
E933K |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,249,726 (GRCm39) |
S1193P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,931,314 (GRCm38) |
I762T |
probably damaging |
Het |
| Nmur1 |
G |
T |
1: 86,315,252 (GRCm39) |
F204L |
probably benign |
Het |
| Or1ak2 |
A |
G |
2: 36,827,988 (GRCm39) |
N286D |
probably damaging |
Het |
| Or52e15 |
G |
T |
7: 104,645,301 (GRCm39) |
P270Q |
probably damaging |
Het |
| Or8a1 |
T |
A |
9: 37,641,806 (GRCm39) |
I158F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,927 (GRCm39) |
Y528C |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,920,289 (GRCm39) |
S748P |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,908,767 (GRCm39) |
T531A |
probably benign |
Het |
| Slit3 |
C |
T |
11: 35,012,463 (GRCm39) |
S41F |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,246,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,429 (GRCm39) |
G185D |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,989,138 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,607 (GRCm39) |
G73E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,552,617 (GRCm39) |
C119S |
possibly damaging |
Het |
| Uox |
A |
G |
3: 146,330,369 (GRCm39) |
Y199C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,187,708 (GRCm39) |
D231G |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,378 (GRCm39) |
K338N |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,561,229 (GRCm39) |
T178I |
probably benign |
Het |
| Zfp931 |
G |
T |
2: 177,709,594 (GRCm39) |
T264K |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,377,326 (GRCm39) |
D857G |
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 |
|
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 |
|
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'- ATCAGAAGTGTCCACAGCC -3'
(R):5'- GCAGTGCTCCAGTAATGTTCG -3'
Sequencing Primer
(F):5'- ACAGCCTTGTGTTCACTTGG -3'
(R):5'- CAGTGCTCCAGTAATGTTCGCATAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation