Incidental Mutation 'R1016:Fbxo40'
| ID |
96358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo40
|
| Ensembl Gene |
ENSMUSG00000047746 |
| Gene Name |
F-box protein 40 |
| Synonyms |
9830003A13Rik |
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
36783822-36810829 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 36789539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 524
(Q524*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075869]
[ENSMUST00000114806]
|
| AlphaFold |
P62932 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075869
AA Change: Q524*
|
| SMART Domains |
Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746
AA Change: Q524*
| 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 null
Transcript: ENSMUST00000114806
AA Change: Q524*
|
| SMART Domains |
Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746
AA Change: Q524*
| 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: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,652,938 (GRCm39) |
K183N |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
| Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGGCACAGATGTTCCTCATCAG -3'
(R):5'- AGCAGCTCAGCTTTTACGTTCACC -3'
Sequencing Primer
(F):5'- TGTATTGCAACACCTCCAGGG -3'
(R):5'- TTACGTTCACCTGCAACAAATTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation