Incidental Mutation 'R1621:Fbxo36'
| ID |
174645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo36
|
| Ensembl Gene |
ENSMUSG00000073633 |
| Gene Name |
F-box protein 36 |
| Synonyms |
2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
84817562-84878208 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 84817595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027421]
[ENSMUST00000097672]
[ENSMUST00000185909]
[ENSMUST00000186465]
[ENSMUST00000186648]
[ENSMUST00000186894]
[ENSMUST00000190067]
[ENSMUST00000187818]
[ENSMUST00000189496]
|
| AlphaFold |
Q9CQ24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027421
|
| SMART Domains |
Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
446 |
660 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
447 |
641 |
1e-5 |
PDB |
|
Pfam:WWE
|
765 |
831 |
7.6e-22 |
PFAM |
|
low complexity region
|
983 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1363 |
1417 |
8e-8 |
BLAST |
|
Blast:HECTc
|
1573 |
1629 |
2e-24 |
BLAST |
|
HECTc
|
1636 |
2025 |
1.29e-177 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097672
AA Change: M1K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
97 |
137 |
1.58e-2 |
SMART |
|
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185909
|
| SMART Domains |
Protein: ENSMUSP00000139986
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186465
|
| SMART Domains |
Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
446 |
660 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
447 |
641 |
1e-5 |
PDB |
|
Pfam:WWE
|
761 |
831 |
2.2e-22 |
PFAM |
|
low complexity region
|
983 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1062 |
1073 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1363 |
1417 |
8e-8 |
BLAST |
|
Blast:HECTc
|
1573 |
1629 |
2e-24 |
BLAST |
|
HECTc
|
1636 |
2025 |
1.29e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186648
|
| SMART Domains |
Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
440 |
654 |
5e-20 |
SMART |
|
PDB:1WA5|B
|
441 |
635 |
1e-5 |
PDB |
|
low complexity region
|
950 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1300 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1329 |
N/A |
INTRINSIC |
|
Blast:HECTc
|
1330 |
1384 |
7e-8 |
BLAST |
|
Blast:HECTc
|
1540 |
1596 |
2e-24 |
BLAST |
|
HECTc
|
1603 |
1992 |
6.2e-180 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186894
|
| SMART Domains |
Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
427 |
N/A |
INTRINSIC |
|
SCOP:d1ee4a_
|
446 |
660 |
3e-20 |
SMART |
|
PDB:1WA5|B
|
447 |
641 |
7e-6 |
PDB |
|
Blast:ARM
|
476 |
516 |
6e-6 |
BLAST |
|
WWE
|
764 |
839 |
6.9e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190067
|
| SMART Domains |
Protein: ENSMUSP00000140817
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187818
|
| SMART Domains |
Protein: ENSMUSP00000140917
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189496
|
| SMART Domains |
Protein: ENSMUSP00000139682
Gene: ENSMUSG00000026219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
195 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
289 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| 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 FBXO36, 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
Het |
|
| Other mutations in Fbxo36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02032:Fbxo36
|
APN |
1 |
84,874,387 (GRCm39) |
splice site |
probably benign |
|
|
IGL02184:Fbxo36
|
APN |
1 |
84,858,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Fbxo36
|
UTSW |
1 |
84,858,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Fbxo36
|
UTSW |
1 |
84,877,790 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2403:Fbxo36
|
UTSW |
1 |
84,877,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2857:Fbxo36
|
UTSW |
1 |
84,874,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2858:Fbxo36
|
UTSW |
1 |
84,874,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4618:Fbxo36
|
UTSW |
1 |
84,877,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Fbxo36
|
UTSW |
1 |
84,874,251 (GRCm39) |
nonsense |
probably null |
|
|
R7472:Fbxo36
|
UTSW |
1 |
84,874,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Fbxo36
|
UTSW |
1 |
84,874,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Fbxo36
|
UTSW |
1 |
84,874,259 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAAGCCCTGGTAAAGGAAACCATC -3'
(R):5'- AAGTCCTACTCTGGAAGAGACCGTC -3'
Sequencing Primer
(F):5'- TGGTAAAGGAAACCATCACCCC -3'
(R):5'- TTCCCACGCTGAGGTGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation