Incidental Mutation 'IGL02315:Fbxo10'
| ID |
288008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45062469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 19
(H19L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052236
AA Change: H19L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: H19L
| 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
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation