Incidental Mutation 'R5633:Fbxo43'
| ID |
439998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo43
|
| Ensembl Gene |
ENSMUSG00000048230 |
| Gene Name |
F-box protein 43 |
| Synonyms |
Emi2, early mitotic inhibitor 2, endogenous meiotic inhibitor 2, XErp1 homolog, 4930533G20Rik |
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36150206-36165030 bp(-) (GRCm39) |
| Type of Mutation |
splice site (477 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 36162241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058643]
[ENSMUST00000227793]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058643
AA Change: L322*
|
| SMART Domains |
Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: L322*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
439 |
479 |
2e-14 |
BLAST |
|
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
IBR
|
555 |
614 |
1.46e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227781
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227793
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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 FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (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, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
Het |
|
| Other mutations in Fbxo43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01445:Fbxo43
|
APN |
15 |
36,151,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Fbxo43
|
APN |
15 |
36,151,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02246:Fbxo43
|
APN |
15 |
36,162,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02576:Fbxo43
|
APN |
15 |
36,152,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Fbxo43
|
UTSW |
15 |
36,152,246 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Fbxo43
|
UTSW |
15 |
36,152,243 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Fbxo43
|
UTSW |
15 |
36,152,240 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Fbxo43
|
UTSW |
15 |
36,152,244 (GRCm39) |
nonsense |
probably null |
|
|
FR4589:Fbxo43
|
UTSW |
15 |
36,152,247 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Fbxo43
|
UTSW |
15 |
36,152,246 (GRCm39) |
small insertion |
probably benign |
|
|
R0193:Fbxo43
|
UTSW |
15 |
36,162,029 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0244:Fbxo43
|
UTSW |
15 |
36,161,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Fbxo43
|
UTSW |
15 |
36,152,338 (GRCm39) |
splice site |
probably benign |
|
|
R0409:Fbxo43
|
UTSW |
15 |
36,162,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0827:Fbxo43
|
UTSW |
15 |
36,163,115 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1562:Fbxo43
|
UTSW |
15 |
36,163,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1880:Fbxo43
|
UTSW |
15 |
36,162,661 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2051:Fbxo43
|
UTSW |
15 |
36,162,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Fbxo43
|
UTSW |
15 |
36,163,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3875:Fbxo43
|
UTSW |
15 |
36,162,249 (GRCm39) |
missense |
probably benign |
|
|
R3876:Fbxo43
|
UTSW |
15 |
36,152,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Fbxo43
|
UTSW |
15 |
36,163,075 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5997:Fbxo43
|
UTSW |
15 |
36,162,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6589:Fbxo43
|
UTSW |
15 |
36,162,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7238:Fbxo43
|
UTSW |
15 |
36,151,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Fbxo43
|
UTSW |
15 |
36,161,997 (GRCm39) |
missense |
probably benign |
|
|
R7689:Fbxo43
|
UTSW |
15 |
36,163,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7780:Fbxo43
|
UTSW |
15 |
36,162,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Fbxo43
|
UTSW |
15 |
36,151,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Fbxo43
|
UTSW |
15 |
36,162,485 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8306:Fbxo43
|
UTSW |
15 |
36,162,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8393:Fbxo43
|
UTSW |
15 |
36,162,494 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9099:Fbxo43
|
UTSW |
15 |
36,162,619 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9658:Fbxo43
|
UTSW |
15 |
36,152,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Fbxo43
|
UTSW |
15 |
36,152,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTCTGGCAATTTTCCC -3'
(R):5'- TTCTTCAGGAGAGGTGAGAGAC -3'
Sequencing Primer
(F):5'- AAAGAATTCCTGGTCATCTTCCTG -3'
(R):5'- GAGGTGAGAGACAGTCTTTTTACACC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation