Incidental Mutation 'IGL02496:Fbxo10'
ID 295850
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) question?
Stock # IGL02496
Quality Score
Status
Chromosome 4
Chromosomal Location 45034248-45084604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45043883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 647 (W647R)
Ref Sequence ENSEMBL: ENSMUSP00000058233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052236]
AlphaFold Q7TQF2
Predicted Effect probably damaging
Transcript: ENSMUST00000052236
AA Change: W647R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: W647R

DomainStartEndE-ValueType
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: W473R
SMART Domains Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: W473R

DomainStartEndE-ValueType
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,327,712 (GRCm39) H1456P possibly damaging Het
Abcg1 C A 17: 31,324,578 (GRCm39) H274Q probably damaging Het
Adamts4 G A 1: 171,078,512 (GRCm39) R44Q probably benign Het
Amigo2 A T 15: 97,143,494 (GRCm39) C309* probably null Het
Ccdc88c A C 12: 100,919,552 (GRCm39) S446A probably benign Het
Cd9 A T 6: 125,449,458 (GRCm39) V28E probably damaging Het
Cops2 A T 2: 125,678,163 (GRCm39) probably benign Het
Csn1s1 C T 5: 87,825,453 (GRCm39) probably benign Het
Cul9 G T 17: 46,851,302 (GRCm39) R373S possibly damaging Het
D630045J12Rik G T 6: 38,126,640 (GRCm39) H1457N probably damaging Het
Dennd2b C A 7: 109,155,442 (GRCm39) R436L possibly damaging Het
Dnah9 A G 11: 65,920,189 (GRCm39) S2235P probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Flnb T A 14: 7,930,919 (GRCm38) probably benign Het
Flnc G T 6: 29,440,684 (GRCm39) V301L probably damaging Het
Hfm1 T C 5: 107,049,627 (GRCm39) S445G probably benign Het
Hif3a A G 7: 16,773,603 (GRCm39) probably benign Het
Hsd17b4 T C 18: 50,288,220 (GRCm39) Y217H probably damaging Het
Iba57 T C 11: 59,049,772 (GRCm39) T192A probably benign Het
Igkv5-48 A T 6: 69,703,671 (GRCm39) I78N probably damaging Het
Inhbe A T 10: 127,186,797 (GRCm39) W128R probably damaging Het
Ism1 T C 2: 139,599,121 (GRCm39) C365R probably damaging Het
Kif19a A T 11: 114,670,470 (GRCm39) T127S probably damaging Het
Kmt2d C A 15: 98,755,439 (GRCm39) probably benign Het
Mmp20 A G 9: 7,654,042 (GRCm39) R321G probably damaging Het
Msl2 T C 9: 100,977,854 (GRCm39) M76T possibly damaging Het
Nme9 T C 9: 99,351,684 (GRCm39) C223R probably damaging Het
Nucb1 G T 7: 45,144,467 (GRCm39) probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or13a18 A C 7: 140,190,081 (GRCm39) M1L probably benign Het
Or5b98 T A 19: 12,931,556 (GRCm39) I201N possibly damaging Het
Or6b1 A C 6: 42,815,738 (GRCm39) I308L probably benign Het
P4ha1 A G 10: 59,206,824 (GRCm39) probably null Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,507 (GRCm39) D476G probably damaging Het
Pikfyve A G 1: 65,303,535 (GRCm39) E1685G possibly damaging Het
Plod2 T A 9: 92,489,147 (GRCm39) L714Q probably damaging Het
Plscr2 A G 9: 92,171,716 (GRCm39) I103V probably benign Het
Plscr3 C A 11: 69,738,209 (GRCm39) probably benign Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Ppm1d C T 11: 85,230,492 (GRCm39) P370L possibly damaging Het
Prr36 C A 8: 4,266,407 (GRCm39) E48* probably null Het
Ptgir G A 7: 16,641,409 (GRCm39) V234I possibly damaging Het
Ptk7 A T 17: 46,901,070 (GRCm39) V219E probably benign Het
Rab39b T A X: 74,618,609 (GRCm39) I74F probably damaging Het
Rasal2 A T 1: 156,977,449 (GRCm39) M1075K possibly damaging Het
Rpl37a G A 1: 72,750,885 (GRCm39) A20T probably null Het
Serpinb10 A C 1: 107,466,155 (GRCm39) probably null Het
Sipa1l1 T A 12: 82,471,868 (GRCm39) Y1283N probably damaging Het
Slc22a23 T A 13: 34,528,468 (GRCm39) I105F possibly damaging Het
Slc25a20 T A 9: 108,559,599 (GRCm39) I221N probably damaging Het
Smarcal1 A T 1: 72,659,247 (GRCm39) H691L probably damaging Het
Smo A C 6: 29,758,480 (GRCm39) T542P probably damaging Het
Spats2 T A 15: 99,071,329 (GRCm39) I51N probably damaging Het
Spon1 G T 7: 113,635,897 (GRCm39) V704L probably benign Het
Tex9 T A 9: 72,389,774 (GRCm39) Q112L probably benign Het
Tgfbr2 T C 9: 115,919,486 (GRCm39) E580G probably benign Het
Top2b T A 14: 16,387,335 (GRCm38) V141E probably benign Het
Trhde A T 10: 114,636,466 (GRCm39) L247* probably null Het
Umodl1 G T 17: 31,217,628 (GRCm39) V1145F probably damaging Het
Vasp C A 7: 18,992,748 (GRCm39) probably benign Het
Vmn1r8 G T 6: 57,013,556 (GRCm39) L202F probably damaging Het
Vmn2r111 T C 17: 22,787,837 (GRCm39) T505A probably benign Het
Wdr27 A G 17: 15,112,693 (GRCm39) probably benign Het
Wfdc1 T G 8: 120,406,909 (GRCm39) V109G probably damaging Het
Zan C A 5: 137,463,056 (GRCm39) E708* probably null Het
Zbtb1 T A 12: 76,432,169 (GRCm39) F52I possibly damaging Het
Zfp236 A G 18: 82,648,117 (GRCm39) S1015P probably damaging Het
Zfp532 T C 18: 65,757,113 (GRCm39) S349P probably damaging Het
Znfx1 A T 2: 166,889,550 (GRCm39) C731S possibly damaging Het
Other mutations in Fbxo10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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