Incidental Mutation 'R1448:Fbxw10'
ID 159065
Institutional Source Beutler Lab
Gene Symbol Fbxw10
Ensembl Gene ENSMUSG00000090173
Gene Name F-box and WD-40 domain protein 10
Synonyms SM2SH2, SM25H2, Fbw10
MMRRC Submission 039503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1448 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 62737895-62768291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62738418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 104 (V104A)
Ref Sequence ENSEMBL: ENSMUSP00000117872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036085] [ENSMUST00000055006] [ENSMUST00000072639] [ENSMUST00000108703] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]
AlphaFold Q5SUS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000036085
AA Change: V104A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: V104A

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 6e-14 BLAST
Blast:WD40 416 453 2e-8 BLAST
WD40 457 496 1.78e-5 SMART
WD40 499 536 5.55e-7 SMART
WD40 539 575 2.84e-4 SMART
WD40 578 615 3.81e-5 SMART
WD40 620 656 6.9e-1 SMART
low complexity region 709 724 N/A INTRINSIC
coiled coil region 964 992 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055006
SMART Domains Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821

DomainStartEndE-ValueType
Blast:BBOX 64 113 6e-24 BLAST
BBOX 117 157 3.24e-4 SMART
coiled coil region 171 196 N/A INTRINSIC
coiled coil region 237 265 N/A INTRINSIC
PRY 364 417 1.41e-22 SMART
SPRY 418 543 6.4e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072639
SMART Domains Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821

DomainStartEndE-ValueType
Blast:BBOX 64 113 5e-24 BLAST
BBOX 117 157 3.24e-4 SMART
coiled coil region 171 196 N/A INTRINSIC
coiled coil region 237 265 N/A INTRINSIC
PRY 364 417 1.41e-22 SMART
Pfam:SPRY 418 483 1.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108703
SMART Domains Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821

DomainStartEndE-ValueType
Blast:BBOX 1 26 9e-10 BLAST
BBOX 30 70 3.24e-4 SMART
coiled coil region 84 109 N/A INTRINSIC
coiled coil region 150 178 N/A INTRINSIC
PRY 277 330 1.41e-22 SMART
SPRY 331 456 6.4e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000150989
AA Change: V104A

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: V104A

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 1e-13 BLAST
Blast:WD40 406 443 2e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
low complexity region 699 714 N/A INTRINSIC
coiled coil region 954 982 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175804
Predicted Effect probably benign
Transcript: ENSMUST00000176577
AA Change: V104A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: V104A

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 6e-14 BLAST
Blast:WD40 406 443 2e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
low complexity region 704 719 N/A INTRINSIC
coiled coil region 959 987 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177336
AA Change: V104A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: V104A

DomainStartEndE-ValueType
low complexity region 262 274 N/A INTRINSIC
Blast:FBOX 286 326 5e-14 BLAST
Blast:WD40 406 443 1e-8 BLAST
WD40 447 486 1.78e-5 SMART
WD40 489 526 5.55e-7 SMART
WD40 529 565 2.84e-4 SMART
WD40 568 605 3.81e-5 SMART
WD40 610 646 6.9e-1 SMART
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
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 FBXW10, 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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T A 7: 107,223,952 (GRCm39) probably benign Het
A1cf A T 19: 31,886,196 (GRCm39) N35I possibly damaging Het
Abca2 T C 2: 25,330,542 (GRCm39) I1106T possibly damaging Het
Abca4 G A 3: 121,956,577 (GRCm39) probably null Het
Adgrv1 T C 13: 81,581,632 (GRCm39) D4804G probably benign Het
Adk T A 14: 21,102,708 (GRCm39) M1K probably null Het
Aff3 T C 1: 38,230,364 (GRCm39) N1006D probably damaging Het
Akap12 A G 10: 4,305,475 (GRCm39) T762A probably benign Het
Atosa C G 9: 74,917,456 (GRCm39) S685* probably null Het
Atp12a T A 14: 56,623,296 (GRCm39) M843K probably damaging Het
Bbx T A 16: 50,086,633 (GRCm39) K169* probably null Het
Bicra A T 7: 15,722,284 (GRCm39) V411E possibly damaging Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Cel T C 2: 28,446,338 (GRCm39) Y511C probably damaging Het
Celf4 G T 18: 25,636,140 (GRCm39) probably null Het
Clasp1 A G 1: 118,436,646 (GRCm39) N310S probably benign Het
Col6a3 T C 1: 90,709,577 (GRCm39) K1873R unknown Het
Cstf1 A G 2: 172,217,795 (GRCm39) D136G probably damaging Het
Cwc22 T A 2: 77,741,899 (GRCm39) E470D probably damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Cytip A G 2: 58,035,192 (GRCm39) I168T probably damaging Het
D5Ertd579e A G 5: 36,760,083 (GRCm39) L1359P probably benign Het
Ddx25 A C 9: 35,469,034 (GRCm39) V26G probably benign Het
Dennd4a T A 9: 64,813,327 (GRCm39) S1429T possibly damaging Het
Dmd A G X: 83,892,306 (GRCm39) D2990G probably damaging Het
Dop1a C A 9: 86,424,785 (GRCm39) probably null Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fabp6 T A 11: 43,486,992 (GRCm39) I112F probably benign Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Grin3a T C 4: 49,702,804 (GRCm39) Y894C probably damaging Het
Hydin C T 8: 111,173,217 (GRCm39) H967Y probably benign Het
Ip6k3 T C 17: 27,364,242 (GRCm39) K269E possibly damaging Het
Jup T C 11: 100,274,026 (GRCm39) K172E probably damaging Het
Katnal1 T C 5: 148,841,486 (GRCm39) D126G probably benign Het
Knl1 A T 2: 118,898,788 (GRCm39) K163M probably damaging Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lct T A 1: 128,235,559 (GRCm39) I483F probably damaging Het
Loxl2 G A 14: 69,930,489 (GRCm39) G751D probably damaging Het
Ltbp4 G A 7: 27,006,002 (GRCm39) R1559C possibly damaging Het
Man2c1 T A 9: 57,042,503 (GRCm39) D183E probably benign Het
Med17 T C 9: 15,187,139 (GRCm39) probably null Het
Mrgpra9 A C 7: 46,885,561 (GRCm39) S34R probably benign Het
Mrpl44 T A 1: 79,755,677 (GRCm39) N94K probably damaging Het
Nat8f1 A G 6: 85,887,924 (GRCm39) V12A probably benign Het
Nr2e3 C A 9: 59,850,797 (GRCm39) G354V probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup155 T C 15: 8,141,890 (GRCm39) V94A probably benign Het
Or14a256 A T 7: 86,265,569 (GRCm39) C95S probably damaging Het
Or52h2 C T 7: 103,839,082 (GRCm39) V111I possibly damaging Het
Or5p76 T C 7: 108,122,525 (GRCm39) I211V probably benign Het
Or9q2 A T 19: 13,772,140 (GRCm39) Y278* probably null Het
Pcdhb10 A T 18: 37,545,556 (GRCm39) I211F possibly damaging Het
Phip A C 9: 82,797,476 (GRCm39) I509S possibly damaging Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Psme4 T G 11: 30,802,744 (GRCm39) L1487R probably damaging Het
Ptgdr2 A G 19: 10,917,857 (GRCm39) S125G probably damaging Het
Ptpro A G 6: 137,418,114 (GRCm39) K126E probably damaging Het
Rdh16f2 T A 10: 127,712,794 (GRCm39) V264E probably benign Het
Ric8b C T 10: 84,783,535 (GRCm39) A131V possibly damaging Het
Rock1 A T 18: 10,070,233 (GRCm39) I1280N probably damaging Het
Rprd2 A G 3: 95,725,888 (GRCm39) V59A possibly damaging Het
Ruvbl1 T A 6: 88,444,551 (GRCm39) C49S probably benign Het
Scn2a A G 2: 65,514,189 (GRCm39) N291S probably benign Het
Serbp1 T A 6: 67,254,904 (GRCm39) H325Q probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Shisal2b T C 13: 104,982,470 (GRCm39) I151V probably benign Het
Slitrk3 G A 3: 72,957,674 (GRCm39) T366I probably damaging Het
Spryd3 A T 15: 102,026,827 (GRCm39) H307Q possibly damaging Het
Spx A T 6: 142,364,239 (GRCm39) D100V probably benign Het
Surf4 A G 2: 26,814,476 (GRCm39) F142L probably damaging Het
Syne2 T A 12: 76,067,099 (GRCm39) probably null Het
Syne2 T C 12: 76,098,952 (GRCm39) M5278T possibly damaging Het
Thap12 T C 7: 98,365,230 (GRCm39) V466A probably benign Het
Thap3 T C 4: 152,067,673 (GRCm39) K135R possibly damaging Het
Tmem131 G T 1: 36,866,439 (GRCm39) D448E probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Trim43a G T 9: 88,464,146 (GRCm39) C19F probably damaging Het
Trp63 C T 16: 25,707,870 (GRCm39) P526L possibly damaging Het
Ubqln3 T C 7: 103,791,997 (GRCm39) D31G probably damaging Het
Utp14b C A 1: 78,643,162 (GRCm39) N353K probably damaging Het
Vmn1r40 A G 6: 89,691,558 (GRCm39) K125R probably damaging Het
Vmn2r1 A G 3: 64,008,734 (GRCm39) Y471C probably damaging Het
Vmn2r13 A G 5: 109,322,001 (GRCm39) I232T probably damaging Het
Zfp263 A C 16: 3,564,323 (GRCm39) E204D probably benign Het
Zfp865 A T 7: 5,032,278 (GRCm39) K88* probably null Het
Other mutations in Fbxw10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Fbxw10 APN 11 62,764,327 (GRCm39) missense probably damaging 1.00
IGL01552:Fbxw10 APN 11 62,748,510 (GRCm39) critical splice acceptor site probably null
IGL01625:Fbxw10 APN 11 62,750,853 (GRCm39) missense probably damaging 1.00
IGL01960:Fbxw10 APN 11 62,767,582 (GRCm39) missense probably damaging 1.00
IGL02457:Fbxw10 APN 11 62,765,808 (GRCm39) missense probably damaging 1.00
IGL02475:Fbxw10 APN 11 62,748,561 (GRCm39) missense possibly damaging 0.94
IGL02864:Fbxw10 APN 11 62,764,349 (GRCm39) missense probably damaging 1.00
R0083:Fbxw10 UTSW 11 62,767,887 (GRCm39) missense probably benign 0.00
R0108:Fbxw10 UTSW 11 62,767,887 (GRCm39) missense probably benign 0.00
R0147:Fbxw10 UTSW 11 62,738,307 (GRCm39) splice site probably null
R0180:Fbxw10 UTSW 11 62,743,922 (GRCm39) missense probably benign 0.09
R0196:Fbxw10 UTSW 11 62,768,070 (GRCm39) missense probably benign 0.01
R0454:Fbxw10 UTSW 11 62,767,564 (GRCm39) missense possibly damaging 0.53
R0529:Fbxw10 UTSW 11 62,750,671 (GRCm39) missense probably damaging 1.00
R0791:Fbxw10 UTSW 11 62,738,282 (GRCm39) missense probably benign 0.18
R0927:Fbxw10 UTSW 11 62,767,770 (GRCm39) missense probably damaging 0.98
R1026:Fbxw10 UTSW 11 62,765,997 (GRCm39) missense probably benign
R1468:Fbxw10 UTSW 11 62,753,464 (GRCm39) missense probably damaging 1.00
R1468:Fbxw10 UTSW 11 62,753,464 (GRCm39) missense probably damaging 1.00
R1689:Fbxw10 UTSW 11 62,750,862 (GRCm39) missense probably damaging 1.00
R1785:Fbxw10 UTSW 11 62,750,683 (GRCm39) missense probably damaging 0.99
R2130:Fbxw10 UTSW 11 62,750,683 (GRCm39) missense probably damaging 0.99
R2132:Fbxw10 UTSW 11 62,750,683 (GRCm39) missense probably damaging 0.99
R2211:Fbxw10 UTSW 11 62,758,361 (GRCm39) missense probably damaging 0.99
R3078:Fbxw10 UTSW 11 62,758,339 (GRCm39) splice site probably benign
R3700:Fbxw10 UTSW 11 62,759,983 (GRCm39) splice site probably null
R3932:Fbxw10 UTSW 11 62,759,983 (GRCm39) splice site probably benign
R4843:Fbxw10 UTSW 11 62,738,151 (GRCm39) missense possibly damaging 0.95
R4869:Fbxw10 UTSW 11 62,753,557 (GRCm39) missense probably damaging 0.98
R4879:Fbxw10 UTSW 11 62,738,573 (GRCm39) missense probably damaging 0.99
R4980:Fbxw10 UTSW 11 62,738,583 (GRCm39) missense possibly damaging 0.94
R5417:Fbxw10 UTSW 11 62,767,990 (GRCm39) missense possibly damaging 0.53
R5531:Fbxw10 UTSW 11 62,753,482 (GRCm39) missense probably damaging 1.00
R5877:Fbxw10 UTSW 11 62,748,542 (GRCm39) missense probably damaging 1.00
R6028:Fbxw10 UTSW 11 62,764,345 (GRCm39) nonsense probably null
R6616:Fbxw10 UTSW 11 62,743,850 (GRCm39) missense probably benign 0.14
R6870:Fbxw10 UTSW 11 62,746,193 (GRCm39) missense probably damaging 0.99
R6967:Fbxw10 UTSW 11 62,738,429 (GRCm39) missense possibly damaging 0.73
R7409:Fbxw10 UTSW 11 62,767,606 (GRCm39) missense possibly damaging 0.86
R7464:Fbxw10 UTSW 11 62,744,124 (GRCm39) missense probably benign 0.01
R7542:Fbxw10 UTSW 11 62,741,422 (GRCm39) missense probably benign 0.33
R7568:Fbxw10 UTSW 11 62,765,994 (GRCm39) missense probably benign
R7733:Fbxw10 UTSW 11 62,764,223 (GRCm39) missense unknown
R7793:Fbxw10 UTSW 11 62,738,213 (GRCm39) missense possibly damaging 0.96
R7943:Fbxw10 UTSW 11 62,741,487 (GRCm39) nonsense probably null
R8003:Fbxw10 UTSW 11 62,748,587 (GRCm39) missense possibly damaging 0.53
R8323:Fbxw10 UTSW 11 62,767,506 (GRCm39) missense probably benign 0.33
R8899:Fbxw10 UTSW 11 62,748,567 (GRCm39) missense probably damaging 0.98
R8904:Fbxw10 UTSW 11 62,765,831 (GRCm39) nonsense probably null
R9035:Fbxw10 UTSW 11 62,758,449 (GRCm39) missense possibly damaging 0.53
R9121:Fbxw10 UTSW 11 62,738,153 (GRCm39) missense possibly damaging 0.53
R9300:Fbxw10 UTSW 11 62,768,109 (GRCm39) missense probably benign 0.18
R9332:Fbxw10 UTSW 11 62,748,585 (GRCm39) missense probably benign 0.33
R9334:Fbxw10 UTSW 11 62,765,910 (GRCm39) missense possibly damaging 0.73
R9417:Fbxw10 UTSW 11 62,753,522 (GRCm39) nonsense probably null
R9476:Fbxw10 UTSW 11 62,743,814 (GRCm39) missense probably benign 0.00
R9510:Fbxw10 UTSW 11 62,743,814 (GRCm39) missense probably benign 0.00
R9520:Fbxw10 UTSW 11 62,750,842 (GRCm39) missense possibly damaging 0.52
R9526:Fbxw10 UTSW 11 62,765,945 (GRCm39) missense possibly damaging 0.70
R9547:Fbxw10 UTSW 11 62,767,647 (GRCm39) missense possibly damaging 0.86
R9602:Fbxw10 UTSW 11 62,750,782 (GRCm39) missense possibly damaging 0.71
Z1186:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1186:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1187:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1187:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1188:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1188:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1189:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1189:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1190:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1190:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1191:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1191:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Z1192:Fbxw10 UTSW 11 62,767,671 (GRCm39) missense probably benign
Z1192:Fbxw10 UTSW 11 62,738,118 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCAGAAGTGTGAAGCCTGTGTC -3'
(R):5'- CAAGCCTGTCTGTCTGCACCTATG -3'

Sequencing Primer
(F):5'- TTGCCACCAAAGAGTGGTTC -3'
(R):5'- CATGAACAGGACTCTGATCACATTG -3'
Posted On 2014-03-14