Incidental Mutation 'R2425:Fbxo10'
| ID |
250138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo10
|
| Ensembl Gene |
ENSMUSG00000048232 |
| Gene Name |
F-box protein 10 |
| Synonyms |
LOC269529, FBX10 |
| MMRRC Submission |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45051642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 490
(E490K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052236
AA Change: E490K
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: E490K
| 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 |
unknown
Transcript: ENSMUST00000140008
AA Change: E316K
|
| SMART Domains |
Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: E316K
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
probably benign |
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 |
|
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'- CACCTAGGAAGAGAGTCTTGAGGAC -3'
(R):5'- ATTGACCGTAAGCTGTCAGGC -3'
Sequencing Primer
(F):5'- TCTTGAGGACACACAAAAATGGGC -3'
(R):5'- TAAGCTGTCAGGCTCGTCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation