Incidental Mutation 'R1321:Fbxo42'
| ID |
157676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo42
|
| Ensembl Gene |
ENSMUSG00000028920 |
| Gene Name |
F-box protein 42 |
| Synonyms |
6720460I06Rik |
| MMRRC Submission |
039387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R1321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140875224-140931373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140895160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 41
(T41I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030757]
|
| AlphaFold |
Q6PDJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030757
AA Change: T41I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: T41I
| 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 |
0.0717 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
| Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
| Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
|
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 |
|
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'- GCTTCATGCTGTGGGAAGGAAGGA -3'
(R):5'- CAGATGGACAGATGGATGGACACAC -3'
Sequencing Primer
(F):5'- CTCCTGTGCTTCTGAGAGCTG -3'
(R):5'- cacacacacacacacacac -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation