Incidental Mutation 'IGL03047:Fbxo42'
| ID |
392222 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03047 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140875224-140931373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140926853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 378
(T378A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030757]
|
| AlphaFold |
Q6PDJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030757
AA Change: T378A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: T378A
| 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
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| 4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
| Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
| Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
| Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
| Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
| Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
| Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
| Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
| Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
| Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
| Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
| Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
| Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
| Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
| Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
| Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
| Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
probably 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 |
|
IGL02989:Fbxo42
|
APN |
4 |
140,926,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCCGACACAGTTTCATC -3'
(R):5'- TGGAGACAAATTTCCACCATTGAG -3'
Sequencing Primer
(F):5'- AGCCGACACAGTTTCATCTCCTAC -3'
(R):5'- CATTGAGAATGGGAGAGCCATC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation