Incidental Mutation 'R8419:Fbxo10'
ID |
653078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo10
|
Ensembl Gene |
ENSMUSG00000048232 |
Gene Name |
F-box protein 10 |
Synonyms |
LOC269529, FBX10 |
MMRRC Submission |
067772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8419 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45041809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 807
(G807C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
AlphaFold |
Q7TQF2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052236
AA Change: G807C
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000058233 Gene: ENSMUSG00000048232 AA Change: G807C
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 |
|
SMART Domains |
Protein: ENSMUSP00000119862 Gene: ENSMUSG00000048232 AA Change: G633C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,312 (GRCm39) |
I707N |
probably damaging |
Het |
Abca14 |
A |
G |
7: 119,815,489 (GRCm39) |
I246V |
probably benign |
Het |
Adam19 |
G |
A |
11: 46,015,850 (GRCm39) |
A337T |
possibly damaging |
Het |
Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
Arhgap5 |
G |
A |
12: 52,565,572 (GRCm39) |
V848I |
probably damaging |
Het |
Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
Casz1 |
T |
A |
4: 149,033,040 (GRCm39) |
S1310T |
probably benign |
Het |
Chi3l1 |
A |
T |
1: 134,117,280 (GRCm39) |
D367V |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,598,392 (GRCm39) |
V990A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,729,935 (GRCm39) |
S1790R |
probably damaging |
Het |
Comt |
C |
T |
16: 18,230,637 (GRCm39) |
W24* |
probably null |
Het |
Cyp2c70 |
T |
C |
19: 40,149,024 (GRCm39) |
E374G |
possibly damaging |
Het |
Dach1 |
T |
C |
14: 98,406,076 (GRCm39) |
T224A |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,887,911 (GRCm39) |
E656K |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,668,936 (GRCm39) |
S1249P |
probably benign |
Het |
Dpp8 |
A |
C |
9: 64,988,037 (GRCm39) |
I861L |
probably benign |
Het |
Enam |
C |
T |
5: 88,651,209 (GRCm39) |
S906L |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,964,906 (GRCm39) |
I429N |
possibly damaging |
Het |
Fcgbpl1 |
G |
T |
7: 27,843,346 (GRCm39) |
G745C |
probably damaging |
Het |
Fsip2 |
G |
C |
2: 82,808,963 (GRCm39) |
E1761Q |
probably damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
Gm4353 |
G |
A |
7: 115,682,784 (GRCm39) |
P266S |
probably benign |
Het |
Gpr84 |
T |
C |
15: 103,217,963 (GRCm39) |
N38S |
probably damaging |
Het |
Guca1a |
A |
T |
17: 47,706,480 (GRCm39) |
I115N |
probably damaging |
Het |
Hic1 |
C |
T |
11: 75,057,096 (GRCm39) |
V598M |
possibly damaging |
Het |
Itga1 |
A |
T |
13: 115,143,604 (GRCm39) |
I309N |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,662,460 (GRCm39) |
S478P |
possibly damaging |
Het |
Kctd8 |
T |
C |
5: 69,497,713 (GRCm39) |
D311G |
probably damaging |
Het |
Klhl32 |
T |
C |
4: 24,682,203 (GRCm39) |
E127G |
possibly damaging |
Het |
Lama2 |
T |
A |
10: 27,298,559 (GRCm39) |
Y179F |
probably benign |
Het |
Lamb2 |
G |
T |
9: 108,365,563 (GRCm39) |
R1382L |
probably benign |
Het |
Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
Muc17 |
A |
T |
5: 137,175,570 (GRCm39) |
N33K |
|
Het |
Myt1 |
A |
T |
2: 181,424,399 (GRCm39) |
R31* |
probably null |
Het |
Nectin2 |
T |
C |
7: 19,451,646 (GRCm39) |
T463A |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,472,003 (GRCm39) |
Y129N |
probably damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,466 (GRCm39) |
I219T |
possibly damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,849 (GRCm39) |
M190K |
probably benign |
Het |
Papolb |
T |
A |
5: 142,514,296 (GRCm39) |
N449I |
possibly damaging |
Het |
Parn |
T |
C |
16: 13,466,338 (GRCm39) |
K236R |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,997 (GRCm39) |
I74T |
probably damaging |
Het |
Prelid1 |
G |
A |
13: 55,470,698 (GRCm39) |
R42Q |
probably damaging |
Het |
Prelp |
A |
G |
1: 133,843,020 (GRCm39) |
F42L |
probably benign |
Het |
Pygo1 |
C |
T |
9: 72,852,380 (GRCm39) |
P189L |
probably damaging |
Het |
Rimbp3 |
T |
A |
16: 17,030,886 (GRCm39) |
S1437T |
probably damaging |
Het |
Slc37a2 |
T |
A |
9: 37,148,726 (GRCm39) |
D252V |
probably benign |
Het |
Socs7 |
A |
G |
11: 97,254,165 (GRCm39) |
K233R |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,082,921 (GRCm39) |
I297V |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,137,637 (GRCm39) |
D476G |
possibly damaging |
Het |
Tesmin |
A |
G |
19: 3,439,077 (GRCm39) |
D43G |
probably benign |
Het |
Thap1 |
C |
A |
8: 26,648,502 (GRCm39) |
Y8* |
probably null |
Het |
Tln1 |
A |
G |
4: 43,536,397 (GRCm39) |
L1965P |
probably damaging |
Het |
Tmprss11d |
A |
G |
5: 86,457,165 (GRCm39) |
S303P |
probably damaging |
Het |
Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
Vmn1r202 |
A |
T |
13: 22,685,985 (GRCm39) |
I144K |
probably 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 |
R1583:Fbxo10
|
UTSW |
4 |
45,062,118 (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 |
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'- CATAGCCGTGTTGTACAGAGTTC -3'
(R):5'- GTCGTTGCCAATGTGATCCAC -3'
Sequencing Primer
(F):5'- CGTGTTGTACAGAGTTCTGATTCTCC -3'
(R):5'- ATGTGATCCACGCCAACGG -3'
|
Posted On |
2020-10-20 |