Incidental Mutation 'R4556:Fbxo42'
| ID |
341863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo42
|
| Ensembl Gene |
ENSMUSG00000028920 |
| Gene Name |
F-box protein 42 |
| Synonyms |
6720460I06Rik |
| MMRRC Submission |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R4556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140875224-140931373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140926321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 334
(H334Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030757]
|
| AlphaFold |
Q6PDJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030757
AA Change: H334Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: H334Q
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
50 |
90 |
2.64e-4 |
SMART |
|
Pfam:Kelch_5
|
114 |
159 |
7.3e-9 |
PFAM |
|
Pfam:Kelch_4
|
118 |
174 |
6.1e-10 |
PFAM |
|
Pfam:Kelch_3
|
130 |
182 |
4e-11 |
PFAM |
|
Pfam:Kelch_5
|
228 |
268 |
8.2e-10 |
PFAM |
|
Pfam:Kelch_1
|
231 |
274 |
6.3e-8 |
PFAM |
|
Pfam:Kelch_2
|
231 |
277 |
5.1e-10 |
PFAM |
|
Pfam:Kelch_3
|
241 |
285 |
2.9e-8 |
PFAM |
|
low complexity region
|
363 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146768
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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 FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; 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, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,140,623 (GRCm39) |
H195Q |
probably benign |
Het |
|
| Other mutations in Fbxo42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Fbxo42
|
APN |
4 |
140,907,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Fbxo42
|
APN |
4 |
140,895,157 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02989:Fbxo42
|
APN |
4 |
140,926,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Fbxo42
|
UTSW |
4 |
140,926,853 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0158:Fbxo42
|
UTSW |
4 |
140,927,640 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0295:Fbxo42
|
UTSW |
4 |
140,927,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Fbxo42
|
UTSW |
4 |
140,922,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Fbxo42
|
UTSW |
4 |
140,895,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1437:Fbxo42
|
UTSW |
4 |
140,895,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1459:Fbxo42
|
UTSW |
4 |
140,895,073 (GRCm39) |
missense |
probably benign |
|
|
R1585:Fbxo42
|
UTSW |
4 |
140,925,417 (GRCm39) |
splice site |
probably benign |
|
|
R1635:Fbxo42
|
UTSW |
4 |
140,927,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Fbxo42
|
UTSW |
4 |
140,927,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4288:Fbxo42
|
UTSW |
4 |
140,895,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Fbxo42
|
UTSW |
4 |
140,927,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4701:Fbxo42
|
UTSW |
4 |
140,927,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Fbxo42
|
UTSW |
4 |
140,926,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Fbxo42
|
UTSW |
4 |
140,926,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Fbxo42
|
UTSW |
4 |
140,926,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Fbxo42
|
UTSW |
4 |
140,927,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6366:Fbxo42
|
UTSW |
4 |
140,927,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7197:Fbxo42
|
UTSW |
4 |
140,927,396 (GRCm39) |
missense |
probably benign |
|
|
R7339:Fbxo42
|
UTSW |
4 |
140,927,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7468:Fbxo42
|
UTSW |
4 |
140,926,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7605:Fbxo42
|
UTSW |
4 |
140,927,129 (GRCm39) |
missense |
probably benign |
|
|
R7619:Fbxo42
|
UTSW |
4 |
140,927,673 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7780:Fbxo42
|
UTSW |
4 |
140,921,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9577:Fbxo42
|
UTSW |
4 |
140,907,743 (GRCm39) |
nonsense |
probably null |
|
|
R9655:Fbxo42
|
UTSW |
4 |
140,895,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Fbxo42
|
UTSW |
4 |
140,922,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Fbxo42
|
UTSW |
4 |
140,907,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGCCTTGAAACAGTAGTTC -3'
(R):5'- CTCGTGGACACAGGAAATGC -3'
Sequencing Primer
(F):5'- CAGTAGTTCTGTCACACGATAGG -3'
(R):5'- CTCGTGGACACAGGAAATGCTAAAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation