Incidental Mutation 'IGL02989:Fbxo42'
| ID |
406842 |
| 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 # |
IGL02989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140875224-140931373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140926845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 375
(I375N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030757]
|
| AlphaFold |
Q6PDJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030757
AA Change: I375N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: I375N
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,422 (GRCm39) |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,670,748 (GRCm39) |
D44G |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,231,580 (GRCm39) |
*1500R |
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,322 (GRCm39) |
Y1413C |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,252 (GRCm39) |
|
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,443 (GRCm39) |
R712W |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,428,427 (GRCm39) |
S396P |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,339,813 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,837,878 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,150,563 (GRCm39) |
F1355C |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,418,243 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
G |
4: 43,007,121 (GRCm39) |
|
probably benign |
Het |
| Gabrr3 |
A |
T |
16: 59,268,371 (GRCm39) |
D328V |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,107 (GRCm39) |
D26V |
probably damaging |
Het |
| Gm6563 |
T |
C |
19: 23,653,234 (GRCm39) |
L8P |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,019 (GRCm39) |
N815D |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,146,125 (GRCm39) |
I134V |
probably benign |
Het |
| Idh2 |
T |
A |
7: 79,748,856 (GRCm39) |
I142F |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,552,269 (GRCm39) |
N907K |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,894 (GRCm39) |
T336A |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,760,048 (GRCm39) |
S204T |
possibly damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,651 (GRCm39) |
S175P |
possibly damaging |
Het |
| Or5b3 |
C |
A |
19: 13,388,850 (GRCm39) |
Q306K |
probably benign |
Het |
| Pilrb1 |
C |
A |
5: 137,855,492 (GRCm39) |
R133L |
possibly damaging |
Het |
| Pitpnm3 |
C |
A |
11: 72,011,012 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,617,880 (GRCm39) |
T3237I |
possibly damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,153 (GRCm39) |
|
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,847,831 (GRCm39) |
E414K |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,463 (GRCm39) |
L82Q |
probably damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,923,087 (GRCm39) |
V117A |
probably benign |
Het |
| Shisa5 |
G |
A |
9: 108,885,062 (GRCm39) |
A112T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,634,820 (GRCm39) |
H662Q |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,126,941 (GRCm39) |
E401G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,341 (GRCm39) |
M940T |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,663 (GRCm39) |
V185E |
probably damaging |
Het |
| Zfp982 |
C |
A |
4: 147,597,052 (GRCm39) |
D136E |
possibly damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation