Incidental Mutation 'R2858:Fbxo36'
| ID |
252534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo36
|
| Ensembl Gene |
ENSMUSG00000073633 |
| Gene Name |
F-box protein 36 |
| Synonyms |
2410002G19Rik, 1110020F21Rik, D1Ertd757e, 0610008D19Rik |
| MMRRC Submission |
040448-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
84817562-84878208 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84874316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 104
(K104R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097672]
|
| AlphaFold |
Q9CQ24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097672
AA Change: K104R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095276
Gene: ENSMUSG00000073633
AA Change: K104R
| 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: ENSMUST00000139562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151737
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
| Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,633,687 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ddb2 |
T |
C |
2: 91,047,022 (GRCm39) |
T338A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,458,861 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
C |
A |
10: 81,335,073 (GRCm39) |
A134S |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
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 |
|
R1621:Fbxo36
|
UTSW |
1 |
84,817,595 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
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 |
|
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'- ACTGGGTCTGTGATACTCCCTG -3'
(R):5'- GCTTCCATGGGCACTACATG -3'
Sequencing Primer
(F):5'- TGTGATACTCCCTGAAGCTTG -3'
(R):5'- CACAAAGGTGGGCAAAACAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation