Incidental Mutation 'R1583:Fbxo10'
| ID |
177238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo10
|
| Ensembl Gene |
ENSMUSG00000048232 |
| Gene Name |
F-box protein 10 |
| Synonyms |
LOC269529, FBX10 |
| MMRRC Submission |
039620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1583 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45062118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 136
(L136R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052236
AA Change: L136R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: L136R
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
6 |
48 |
1.92e-6 |
SMART |
|
PbH1
|
198 |
217 |
8.34e3 |
SMART |
|
PbH1
|
238 |
260 |
1.37e3 |
SMART |
|
CASH
|
337 |
511 |
7.29e-6 |
SMART |
|
PbH1
|
423 |
444 |
1.41e2 |
SMART |
|
PbH1
|
467 |
489 |
1.33e3 |
SMART |
|
PbH1
|
490 |
512 |
1.32e2 |
SMART |
|
PbH1
|
513 |
535 |
8.34e3 |
SMART |
|
PbH1
|
536 |
558 |
2.87e1 |
SMART |
|
CASH
|
536 |
672 |
5.49e1 |
SMART |
|
PbH1
|
559 |
581 |
1.25e1 |
SMART |
|
PbH1
|
582 |
604 |
2.64e2 |
SMART |
|
PbH1
|
605 |
627 |
6.05e3 |
SMART |
|
PbH1
|
628 |
650 |
2.46e2 |
SMART |
|
PbH1
|
651 |
673 |
2.14e2 |
SMART |
|
CASH
|
681 |
804 |
6.58e1 |
SMART |
|
PbH1
|
713 |
735 |
6.52e2 |
SMART |
|
PbH1
|
736 |
758 |
5.92e2 |
SMART |
|
PbH1
|
760 |
782 |
1.13e3 |
SMART |
|
PbH1
|
783 |
805 |
1.86e2 |
SMART |
|
PbH1
|
828 |
850 |
9.32e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140008
|
| SMART Domains |
Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
| Domain | Start | End | E-Value | Type |
|---|
|
PbH1
|
25 |
44 |
8.34e3 |
SMART |
|
PbH1
|
65 |
87 |
1.37e3 |
SMART |
|
CASH
|
164 |
338 |
7.29e-6 |
SMART |
|
PbH1
|
250 |
271 |
1.41e2 |
SMART |
|
PbH1
|
294 |
316 |
1.33e3 |
SMART |
|
PbH1
|
317 |
339 |
1.32e2 |
SMART |
|
PbH1
|
340 |
362 |
8.34e3 |
SMART |
|
PbH1
|
363 |
385 |
2.87e1 |
SMART |
|
CASH
|
363 |
499 |
5.49e1 |
SMART |
|
PbH1
|
386 |
408 |
1.25e1 |
SMART |
|
PbH1
|
409 |
431 |
2.64e2 |
SMART |
|
PbH1
|
432 |
454 |
6.05e3 |
SMART |
|
PbH1
|
455 |
477 |
2.46e2 |
SMART |
|
PbH1
|
478 |
500 |
2.14e2 |
SMART |
|
CASH
|
508 |
631 |
6.58e1 |
SMART |
|
PbH1
|
540 |
562 |
6.52e2 |
SMART |
|
PbH1
|
563 |
585 |
5.92e2 |
SMART |
|
PbH1
|
587 |
609 |
1.13e3 |
SMART |
|
PbH1
|
610 |
632 |
1.86e2 |
SMART |
|
PbH1
|
655 |
677 |
9.32e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155583
|
| Meta Mutation Damage Score |
0.6518 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
99% (79/80) |
| 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 FBXO10, 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,030,528 (GRCm39) |
S691P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,265,912 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
G |
1: 72,718,714 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
T |
6: 87,623,015 (GRCm39) |
Y355N |
probably damaging |
Het |
| Bms1 |
A |
G |
6: 118,366,350 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,429,373 (GRCm39) |
I182T |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,603 (GRCm39) |
D88G |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,242,181 (GRCm39) |
N491S |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,808,770 (GRCm39) |
S1415P |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,779,131 (GRCm39) |
V331A |
probably benign |
Het |
| Decr2 |
T |
C |
17: 26,301,998 (GRCm39) |
E244G |
probably damaging |
Het |
| Dhrs11 |
A |
G |
11: 84,713,943 (GRCm39) |
M136T |
probably damaging |
Het |
| Eapp |
G |
A |
12: 54,732,733 (GRCm39) |
Q126* |
probably null |
Het |
| Fam111a |
T |
A |
19: 12,565,142 (GRCm39) |
V297D |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,167,118 (GRCm39) |
H613Q |
possibly damaging |
Het |
| Frk |
A |
T |
10: 34,467,806 (GRCm39) |
|
probably null |
Het |
| Gm10392 |
T |
A |
11: 77,408,307 (GRCm39) |
D104V |
probably benign |
Het |
| Gpn1 |
A |
G |
5: 31,654,682 (GRCm39) |
E78G |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,716,905 (GRCm39) |
Y506C |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,247,576 (GRCm39) |
S274L |
possibly damaging |
Het |
| Immp2l |
G |
T |
12: 41,750,548 (GRCm39) |
|
probably benign |
Het |
| Klhl21 |
T |
C |
4: 152,094,081 (GRCm39) |
F228L |
possibly damaging |
Het |
| Lamc1 |
T |
A |
1: 153,119,224 (GRCm39) |
|
probably null |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lratd1 |
G |
A |
12: 14,200,409 (GRCm39) |
A106V |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,432,330 (GRCm39) |
V15A |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,293,621 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,441 (GRCm39) |
H2590Q |
possibly damaging |
Het |
| Mlxip |
T |
C |
5: 123,588,286 (GRCm39) |
I238T |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,695,956 (GRCm39) |
D230E |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,551,185 (GRCm39) |
T669S |
probably benign |
Het |
| Nin |
C |
T |
12: 70,078,512 (GRCm39) |
M1691I |
probably benign |
Het |
| Nlrp4d |
C |
T |
7: 10,116,164 (GRCm39) |
A203T |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,046 (GRCm39) |
F177L |
probably benign |
Het |
| Or10q12 |
A |
T |
19: 13,745,874 (GRCm39) |
H56L |
probably benign |
Het |
| Or4c106 |
T |
G |
2: 88,682,606 (GRCm39) |
F104C |
probably damaging |
Het |
| Or4k5 |
C |
A |
14: 50,386,231 (GRCm39) |
M33I |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,770 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,394 (GRCm39) |
V212A |
probably benign |
Het |
| Osbp |
C |
A |
19: 11,955,193 (GRCm39) |
Q282K |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,790,256 (GRCm39) |
S177G |
probably damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,175 (GRCm39) |
H261R |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,647 (GRCm39) |
L274F |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,188,049 (GRCm39) |
S3420P |
probably benign |
Het |
| Prss3 |
A |
C |
6: 41,354,561 (GRCm39) |
|
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,400,563 (GRCm39) |
T751A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,623,239 (GRCm39) |
V126A |
probably damaging |
Het |
| Rai14 |
A |
C |
15: 10,588,002 (GRCm39) |
D258E |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,481 (GRCm39) |
V143A |
possibly damaging |
Het |
| Sarm1 |
G |
A |
11: 78,374,153 (GRCm39) |
Q625* |
probably null |
Het |
| Scgb1b21 |
T |
G |
7: 33,227,092 (GRCm39) |
|
noncoding transcript |
Het |
| Scrn1 |
A |
T |
6: 54,497,754 (GRCm39) |
V279E |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,148,634 (GRCm39) |
T1670A |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,640,122 (GRCm39) |
I305F |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 110,042,685 (GRCm39) |
T918A |
probably damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,957,389 (GRCm39) |
H180Q |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,193 (GRCm39) |
R260* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,732,109 (GRCm39) |
D1249G |
probably benign |
Het |
| Tgtp1 |
C |
G |
11: 48,878,357 (GRCm39) |
G116A |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,045,634 (GRCm39) |
Y317H |
probably damaging |
Het |
| Top6bl |
T |
A |
19: 4,702,199 (GRCm39) |
K282N |
probably damaging |
Het |
| Trim66 |
A |
T |
7: 109,054,287 (GRCm39) |
W1308R |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,674,371 (GRCm39) |
K878N |
possibly damaging |
Het |
| Zfp41 |
T |
A |
15: 75,490,140 (GRCm39) |
S31T |
possibly damaging |
Het |
|
| Other mutations in Fbxo10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Fbxo10
|
APN |
4 |
45,058,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02073:Fbxo10
|
APN |
4 |
45,046,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02097:Fbxo10
|
APN |
4 |
45,048,527 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02315:Fbxo10
|
APN |
4 |
45,062,469 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02403:Fbxo10
|
APN |
4 |
45,062,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02408:Fbxo10
|
APN |
4 |
45,058,361 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02496:Fbxo10
|
APN |
4 |
45,043,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Fbxo10
|
APN |
4 |
45,044,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Fbxo10
|
APN |
4 |
45,041,928 (GRCm39) |
missense |
probably benign |
0.20 |
|
N/A - 287:Fbxo10
|
UTSW |
4 |
45,044,708 (GRCm39) |
splice site |
probably benign |
|
|
R1033:Fbxo10
|
UTSW |
4 |
45,062,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Fbxo10
|
UTSW |
4 |
45,043,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1586:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1789:Fbxo10
|
UTSW |
4 |
45,046,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2187:Fbxo10
|
UTSW |
4 |
45,058,531 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2191:Fbxo10
|
UTSW |
4 |
45,044,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Fbxo10
|
UTSW |
4 |
45,044,719 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2425:Fbxo10
|
UTSW |
4 |
45,051,642 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2495:Fbxo10
|
UTSW |
4 |
45,040,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4105:Fbxo10
|
UTSW |
4 |
45,059,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4472:Fbxo10
|
UTSW |
4 |
45,043,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4480:Fbxo10
|
UTSW |
4 |
45,048,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Fbxo10
|
UTSW |
4 |
45,040,692 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5193:Fbxo10
|
UTSW |
4 |
45,051,573 (GRCm39) |
nonsense |
probably null |
|
|
R5309:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5312:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5348:Fbxo10
|
UTSW |
4 |
45,058,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Fbxo10
|
UTSW |
4 |
45,035,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Fbxo10
|
UTSW |
4 |
45,058,760 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5974:Fbxo10
|
UTSW |
4 |
45,040,631 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5990:Fbxo10
|
UTSW |
4 |
45,061,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Fbxo10
|
UTSW |
4 |
45,043,857 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6359:Fbxo10
|
UTSW |
4 |
45,041,796 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6808:Fbxo10
|
UTSW |
4 |
45,059,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6873:Fbxo10
|
UTSW |
4 |
45,041,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6921:Fbxo10
|
UTSW |
4 |
45,044,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Fbxo10
|
UTSW |
4 |
45,062,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7120:Fbxo10
|
UTSW |
4 |
45,040,533 (GRCm39) |
nonsense |
probably null |
|
|
R7498:Fbxo10
|
UTSW |
4 |
45,062,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7872:Fbxo10
|
UTSW |
4 |
45,051,699 (GRCm39) |
missense |
not run |
|
|
R8022:Fbxo10
|
UTSW |
4 |
45,062,062 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8161:Fbxo10
|
UTSW |
4 |
45,044,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Fbxo10
|
UTSW |
4 |
45,058,942 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8419:Fbxo10
|
UTSW |
4 |
45,041,809 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8744:Fbxo10
|
UTSW |
4 |
45,043,880 (GRCm39) |
missense |
probably benign |
|
|
R8798:Fbxo10
|
UTSW |
4 |
45,051,605 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8887:Fbxo10
|
UTSW |
4 |
45,058,887 (GRCm39) |
missense |
probably benign |
|
|
R9273:Fbxo10
|
UTSW |
4 |
45,062,178 (GRCm39) |
missense |
probably benign |
|
|
R9548:Fbxo10
|
UTSW |
4 |
45,058,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGAAGACAAGATTGCACACAC -3'
(R):5'- TATGAGCTGATCCTCAGCCTGGAC -3'
Sequencing Primer
(F):5'- ACGTGTGGTTGAGCAGTG -3'
(R):5'- CAACCAGCCTGATGTGGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation