Incidental Mutation 'IGL00769:Fbxo42'
| ID |
10734 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxo42
|
| Ensembl Gene |
ENSMUSG00000028920 |
| Gene Name |
F-box protein 42 |
| Synonyms |
6720460I06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140875224-140931373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140907760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 140
(T140M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030757]
|
| AlphaFold |
Q6PDJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030757
AA Change: T140M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: T140M
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
| Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
| Other mutations in Fbxo42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4556:Fbxo42
|
UTSW |
4 |
140,926,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation