Incidental Mutation 'R8323:Fbxw10'
ID 643931
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 067724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 62737895-62768291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62767506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 781 (V781I)
Ref Sequence ENSEMBL: ENSMUSP00000135870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014321] [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]
AlphaFold Q5SUS0
Predicted Effect probably benign
Transcript: ENSMUST00000014321
SMART Domains Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177

DomainStartEndE-ValueType
Pfam:DUF846 32 174 9.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036085
AA Change: V786I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: V786I

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: ENSMUST00000150989
AA Change: V776I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: V776I

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 probably benign
Transcript: ENSMUST00000176577
AA Change: V781I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: V781I

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
SMART Domains Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,351 (GRCm39) F6S probably benign Het
Braf T C 6: 39,620,058 (GRCm39) T507A possibly damaging Het
Catsperb A C 12: 101,375,658 (GRCm39) H24P probably benign Het
Ccdc57 G T 11: 120,788,750 (GRCm39) Q366K possibly damaging Het
Cep295 G T 9: 15,249,529 (GRCm39) T462K possibly damaging Het
Cep295 T A 9: 15,264,357 (GRCm39) R96S probably damaging Het
Cfap206 C T 4: 34,719,647 (GRCm39) E256K probably benign Het
Cfap251 A G 5: 123,435,588 (GRCm39) N1016S probably benign Het
Cldn13 A G 5: 134,943,828 (GRCm39) V119A probably benign Het
Csmd1 G T 8: 17,266,751 (GRCm39) C58* probably null Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Dcbld2 T A 16: 58,283,473 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,109 (GRCm39) I2299V probably benign Het
Dsp C T 13: 38,356,806 (GRCm39) H229Y possibly damaging Het
Fam193b A T 13: 55,702,223 (GRCm39) C51* probably null Het
Fdps G T 3: 89,002,696 (GRCm39) P151T possibly damaging Het
Galk2 C T 2: 125,708,298 (GRCm39) H16Y probably benign Het
Gm1110 A G 9: 26,813,719 (GRCm39) probably null Het
Gm3727 C T 14: 7,261,693 (GRCm38) V204I probably benign Het
Gtf2h3 A G 5: 124,720,534 (GRCm39) I13V probably benign Het
H2-T24 T A 17: 36,328,431 (GRCm39) probably null Het
Heatr5a C T 12: 52,002,289 (GRCm39) V216M probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Igfbp2 C T 1: 72,888,780 (GRCm39) P224S probably damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Kif11 T A 19: 37,372,692 (GRCm39) F27I possibly damaging Het
Lcor T C 19: 41,572,036 (GRCm39) S264P probably benign Het
Lrrc28 G T 7: 67,245,455 (GRCm39) T137K unknown Het
Lyg1 T A 1: 37,989,018 (GRCm39) R67S probably damaging Het
Ms4a10 G A 19: 10,940,363 (GRCm39) Q255* probably null Het
Myo1h A G 5: 114,480,200 (GRCm39) R512G Het
Nmnat3 T C 9: 98,292,276 (GRCm39) Y174H probably damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Nsf C A 11: 103,819,665 (GRCm39) V35L probably benign Het
Or1e30 A T 11: 73,677,766 (GRCm39) M1L probably damaging Het
Or2w6 T A 13: 21,843,302 (GRCm39) M64L possibly damaging Het
Osbpl9 A G 4: 108,965,119 (GRCm39) S116P probably benign Het
Pcdhb15 A C 18: 37,608,715 (GRCm39) E649A probably benign Het
Pcdhb8 T A 18: 37,488,476 (GRCm39) D51E probably benign Het
Plcl1 T A 1: 55,736,895 (GRCm39) D745E possibly damaging Het
Prss3 A G 6: 41,351,258 (GRCm39) L165P probably damaging Het
Psme4 T A 11: 30,793,532 (GRCm39) I1211N probably damaging Het
Rb1 A G 14: 73,503,023 (GRCm39) V416A probably benign Het
Rnf111 T A 9: 70,383,204 (GRCm39) Q243L probably benign Het
Sacm1l T C 9: 123,377,987 (GRCm39) V89A probably benign Het
Sardh C T 2: 27,125,576 (GRCm39) D313N probably damaging Het
Scin T C 12: 40,129,681 (GRCm39) I371V probably benign Het
Scn10a C A 9: 119,438,462 (GRCm39) L1801F possibly damaging Het
Sele G A 1: 163,879,207 (GRCm39) V281M possibly damaging Het
Slc17a1 C A 13: 24,071,982 (GRCm39) T400K probably damaging Het
Slc22a28 T A 19: 8,108,788 (GRCm39) D118V probably damaging Het
Slc2a10 T A 2: 165,356,671 (GRCm39) F110L probably benign Het
Slc51a A G 16: 32,295,197 (GRCm39) S294P probably damaging Het
Snapc4 T C 2: 26,254,711 (GRCm39) E1271G probably benign Het
Spata31 C A 13: 65,070,065 (GRCm39) Q738K possibly damaging Het
Spdya A G 17: 71,895,587 (GRCm39) D284G probably benign Het
Tdrd5 T C 1: 156,094,832 (GRCm39) D757G possibly damaging Het
Tmem104 T C 11: 115,134,199 (GRCm39) F245S probably damaging Het
Tmem170 A T 8: 112,603,153 (GRCm39) S39T probably benign Het
Trim24 G T 6: 37,892,233 (GRCm39) probably null Het
Uap1 A G 1: 169,978,635 (GRCm39) V302A probably damaging Het
Vmn2r96 A T 17: 18,803,023 (GRCm39) Y311F probably damaging Het
Wdhd1 A T 14: 47,512,252 (GRCm39) D46E possibly damaging Het
Zdbf2 G A 1: 63,342,073 (GRCm39) V151I possibly damaging Het
Zfp747l1 A T 7: 126,983,621 (GRCm39) C494S possibly damaging Het
Zfp943 A G 17: 22,211,763 (GRCm39) Q283R possibly damaging Het
Zfp944 A T 17: 22,558,235 (GRCm39) D337E probably benign 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
R1448:Fbxw10 UTSW 11 62,738,418 (GRCm39) missense possibly damaging 0.74
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
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'- GCAACAAGACCTCAGTGTGC -3'
(R):5'- TGGTTTGTCTCACACCTGTAG -3'

Sequencing Primer
(F):5'- CAAGACCTCAGTGTGCCTTTAAGTG -3'
(R):5'- GTCTCACACCTGTAGGAAGATTGC -3'
Posted On 2020-09-02