Incidental Mutation 'R8744:Fbxo10'
| ID |
663407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo10
|
| Ensembl Gene |
ENSMUSG00000048232 |
| Gene Name |
F-box protein 10 |
| Synonyms |
LOC269529, FBX10 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45043880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 648
(M648V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052236
AA Change: M648V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: M648V
| 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: M474V
| 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 |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
98% (64/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
G |
14: 66,272,165 (GRCm39) |
|
probably null |
Het |
| Akt2 |
A |
T |
7: 27,317,738 (GRCm39) |
D94V |
probably benign |
Het |
| Anapc7 |
C |
T |
5: 122,566,211 (GRCm39) |
S40L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,965,890 (GRCm39) |
A2431S |
possibly damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,902 (GRCm39) |
Q199L |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,121,177 (GRCm39) |
C947R |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,255,148 (GRCm39) |
V199I |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,802,598 (GRCm39) |
C65S |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,436,791 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
A |
G |
4: 115,386,667 (GRCm39) |
D438G |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,488,611 (GRCm39) |
H659R |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,089,418 (GRCm39) |
I730V |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,220 (GRCm39) |
Q3658* |
probably null |
Het |
| Eif2ak4 |
C |
A |
2: 118,261,474 (GRCm39) |
C671* |
probably null |
Het |
| Eif4g3 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
4: 137,721,372 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,925 (GRCm39) |
H446R |
unknown |
Het |
| Epb41l2 |
C |
T |
10: 25,317,725 (GRCm39) |
L81F |
probably damaging |
Het |
| Ercc8 |
G |
A |
13: 108,320,307 (GRCm39) |
A298T |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gnpda2 |
C |
T |
5: 69,735,459 (GRCm39) |
A211T |
probably damaging |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,469,926 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Igkv4-81 |
T |
C |
6: 68,968,046 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itgav |
G |
T |
2: 83,600,427 (GRCm39) |
A312S |
probably benign |
Het |
| Itpr1 |
G |
T |
6: 108,354,763 (GRCm39) |
A457S |
possibly damaging |
Het |
| Kcna10 |
T |
C |
3: 107,101,702 (GRCm39) |
L111P |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 63,012,433 (GRCm39) |
R92G |
possibly damaging |
Het |
| Lamc2 |
G |
A |
1: 153,019,484 (GRCm39) |
P486S |
probably benign |
Het |
| Lrba |
C |
T |
3: 86,211,640 (GRCm39) |
T420M |
probably benign |
Het |
| Lrrc52 |
G |
A |
1: 167,294,150 (GRCm39) |
T45M |
probably benign |
Het |
| Lsm8 |
C |
A |
6: 18,853,638 (GRCm39) |
A80E |
probably benign |
Het |
| Ly6g |
T |
A |
15: 75,027,518 (GRCm39) |
S9T |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,639 (GRCm39) |
Y159H |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,451,970 (GRCm39) |
|
probably null |
Het |
| Mrpl9 |
T |
A |
3: 94,355,082 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
C |
3: 125,506,989 (GRCm39) |
F210L |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,317,597 (GRCm39) |
V300A |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,723 (GRCm39) |
C167* |
probably null |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,804,373 (GRCm39) |
H739R |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,827 (GRCm39) |
T628A |
probably damaging |
Het |
| Plekhn1 |
C |
T |
4: 156,318,364 (GRCm39) |
R86H |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,461 (GRCm39) |
W72R |
probably benign |
Het |
| Polr3b |
C |
A |
10: 84,464,488 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,781,184 (GRCm39) |
I104F |
probably damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,751 (GRCm39) |
V127D |
probably damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,408 (GRCm39) |
M211V |
unknown |
Het |
| Rpl7 |
T |
C |
1: 16,172,113 (GRCm39) |
T218A |
probably benign |
Het |
| Serinc2 |
T |
C |
4: 130,158,988 (GRCm39) |
|
probably benign |
Het |
| Socs2 |
T |
A |
10: 95,228,662 (GRCm39) |
Q196L |
|
Het |
| Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
| Syvn1 |
G |
A |
19: 6,099,198 (GRCm39) |
G149D |
probably damaging |
Het |
| Them5 |
T |
C |
3: 94,253,472 (GRCm39) |
S161P |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,873 (GRCm39) |
Y235N |
possibly damaging |
Het |
| Toporsl |
T |
C |
4: 52,611,967 (GRCm39) |
L620P |
probably benign |
Het |
| Traf3 |
A |
T |
12: 111,228,230 (GRCm39) |
E480D |
probably benign |
Het |
| Trav13n-4 |
A |
G |
14: 53,601,399 (GRCm39) |
Y56C |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,642 (GRCm39) |
Y1096C |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 43,998,510 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,911,491 (GRCm39) |
L512Q |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,403 (GRCm39) |
T75A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,426,126 (GRCm39) |
V2550A |
unknown |
Het |
| Zfp235 |
A |
T |
7: 23,839,924 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zmym1 |
A |
T |
4: 126,945,165 (GRCm39) |
D141E |
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 |
|
R8419:Fbxo10
|
UTSW |
4 |
45,041,809 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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'- TTAATACTGTTGGACTCCACGAGC -3'
(R):5'- AATTGGGCATTGTCCCTGTG -3'
Sequencing Primer
(F):5'- TTGGACTCCACGAGCGCTAC -3'
(R):5'- CATTGTCCCTGTGTGCGAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation