Incidental Mutation 'R0454:Fbxw10'
ID 39902
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 038654-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0454 (G1)
Quality Score 174
Status Not validated
Chromosome 11
Chromosomal Location 62737895-62768291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62767564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 800 (N800S)
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: N805S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: N805S

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 noncoding transcript
Transcript: ENSMUST00000127646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128698
Predicted Effect probably benign
Transcript: ENSMUST00000150989
AA Change: N795S

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: N795S

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: ENSMUST00000154176
Predicted Effect possibly damaging
Transcript: ENSMUST00000176577
AA Change: N800S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: N800S

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik T C X: 65,347,274 (GRCm39) E91G unknown Het
Acot1 A G 12: 84,064,113 (GRCm39) Q407R probably benign Het
Adcy10 T A 1: 165,398,297 (GRCm39) Y1465N probably damaging Het
Ahsa2 T A 11: 23,440,702 (GRCm39) I249F probably damaging Het
Arhgap10 T C 8: 77,977,594 (GRCm39) N721S probably damaging Het
Arrdc4 T G 7: 68,391,619 (GRCm39) E216A probably damaging Het
Axin1 T C 17: 26,392,637 (GRCm39) V306A probably benign Het
Cct3 T C 3: 88,210,173 (GRCm39) probably null Het
Cfap58 G A 19: 47,963,119 (GRCm39) probably null Het
Chd9 T C 8: 91,699,859 (GRCm39) S49P possibly damaging Het
Clcn2 C A 16: 20,529,178 (GRCm39) probably null Het
Col26a1 T C 5: 136,783,047 (GRCm39) N286D probably benign Het
Cpt1b T A 15: 89,308,596 (GRCm39) I111F possibly damaging Het
Cyp4f16 T A 17: 32,756,061 (GRCm39) I30N probably damaging Het
Ddc T G 11: 11,830,587 (GRCm39) D19A possibly damaging Het
Depdc1a T A 3: 159,222,537 (GRCm39) probably null Het
Evc2 T A 5: 37,574,828 (GRCm39) C1028S possibly damaging Het
Fam228a T C 12: 4,781,457 (GRCm39) E134G probably damaging Het
Fasl T C 1: 161,615,523 (GRCm39) E111G probably benign Het
Fras1 T C 5: 96,910,524 (GRCm39) S3318P probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gad1 T A 2: 70,409,545 (GRCm39) M212K probably damaging Het
Gm17455 T G 10: 60,238,752 (GRCm39) S6A probably benign Het
Grm5 T C 7: 87,779,997 (GRCm39) S1146P probably damaging Het
Gsn T C 2: 35,194,651 (GRCm39) L649P probably damaging Het
H2-DMb1 A G 17: 34,374,685 (GRCm39) T112A probably benign Het
Hcn3 T A 3: 89,060,201 (GRCm39) I148F probably damaging Het
Hdac10 T C 15: 89,009,961 (GRCm39) probably null Het
Hk3 C A 13: 55,156,518 (GRCm39) D619Y probably damaging Het
Ifi44 T A 3: 151,451,134 (GRCm39) R272S possibly damaging Het
Il1rap A C 16: 26,517,625 (GRCm39) D275A probably damaging Het
Irag2 A G 6: 145,113,710 (GRCm39) R293G possibly damaging Het
Itgam A T 7: 127,707,152 (GRCm39) N660I probably benign Het
Itpr3 T C 17: 27,332,793 (GRCm39) M1853T probably benign Het
Lrrc8c A C 5: 105,754,965 (GRCm39) K247Q probably damaging Het
Map3k21 T C 8: 126,668,858 (GRCm39) S815P probably benign Het
Mast4 A G 13: 102,888,068 (GRCm39) S1114P probably damaging Het
Myh8 C T 11: 67,194,591 (GRCm39) Q1601* probably null Het
Nhlrc2 A G 19: 56,558,959 (GRCm39) D148G probably damaging Het
Nos1 T A 5: 118,081,385 (GRCm39) S1196T probably benign Het
Nsmaf C T 4: 6,424,874 (GRCm39) probably null Het
Obscn T C 11: 58,890,449 (GRCm39) D7361G unknown Het
Or2t35 T C 14: 14,407,777 (GRCm38) V183A probably damaging Het
Or52ad1 C A 7: 102,996,085 (GRCm39) A17S probably benign Het
Or5bw2 C T 7: 6,573,359 (GRCm39) A123V probably damaging Het
Pank3 T G 11: 35,668,536 (GRCm39) M175R probably benign Het
Papolg A G 11: 23,829,868 (GRCm39) probably null Het
Pcdhb21 G A 18: 37,647,566 (GRCm39) D232N probably damaging Het
Pcdhb22 T C 18: 37,651,925 (GRCm39) F131S probably damaging Het
Pik3r6 G A 11: 68,419,608 (GRCm39) A140T possibly damaging Het
Pinlyp T C 7: 24,241,947 (GRCm39) T87A possibly damaging Het
Pld1 T C 3: 28,178,724 (GRCm39) S873P probably damaging Het
Pld5 T A 1: 176,102,295 (GRCm39) Y49F probably benign Het
Polq T C 16: 36,855,252 (GRCm39) V449A probably damaging Het
Prkca A G 11: 107,869,106 (GRCm39) V69A probably benign Het
Ptk6 A G 2: 180,844,075 (GRCm39) S75P possibly damaging Het
Ptprq G A 10: 107,418,391 (GRCm39) Q1662* probably null Het
Ptprt C A 2: 161,395,742 (GRCm39) A1144S probably damaging Het
Rrm1 T A 7: 102,116,133 (GRCm39) W684R probably damaging Het
Ryr1 T A 7: 28,735,500 (GRCm39) M4093L probably damaging Het
Scnn1a C T 6: 125,299,189 (GRCm39) L90F probably damaging Het
Slc25a19 G T 11: 115,508,423 (GRCm39) Y188* probably null Het
Slc31a1 C T 4: 62,303,866 (GRCm39) probably benign Het
Slc5a11 C G 7: 122,864,458 (GRCm39) S351R possibly damaging Het
Slc6a17 A G 3: 107,384,183 (GRCm39) L387P probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spam1 T A 6: 24,797,837 (GRCm39) L331Q probably damaging Het
Spata32 A G 11: 103,100,125 (GRCm39) W127R probably damaging Het
Spring1 A G 5: 118,393,886 (GRCm39) E88G possibly damaging Het
Spta1 T G 1: 174,041,508 (GRCm39) I1324S probably damaging Het
St6galnac4 A G 2: 32,484,330 (GRCm39) Y176C probably damaging Het
Stk10 A G 11: 32,546,724 (GRCm39) E327G probably damaging Het
Stxbp5l T A 16: 36,954,646 (GRCm39) Y912F possibly damaging Het
Tchp G A 5: 114,858,243 (GRCm39) E459K probably benign Het
Terf2 C T 8: 107,822,842 (GRCm39) W100* probably null Het
Thoc2l T G 5: 104,666,077 (GRCm39) S200A probably benign Het
Thrsp T C 7: 97,066,634 (GRCm39) N26S probably damaging Het
Tln1 C A 4: 43,553,504 (GRCm39) R297L probably benign Het
Tmeff2 C A 1: 50,967,234 (GRCm39) T43N possibly damaging Het
Tmx1 C T 12: 70,499,947 (GRCm39) A2V possibly damaging Het
Tnks1bp1 T A 2: 84,902,481 (GRCm39) L1053Q probably damaging Het
Trmt10b A T 4: 45,304,286 (GRCm39) K107N probably damaging Het
Trpa1 A T 1: 14,955,972 (GRCm39) probably null Het
Trrap A G 5: 144,783,287 (GRCm39) K3371R probably damaging Het
Tuba3b G A 6: 145,563,995 (GRCm39) V14I probably benign Het
Usp19 T C 9: 108,371,439 (GRCm39) probably null Het
Usp28 C A 9: 48,950,401 (GRCm39) D615E possibly damaging Het
Utp20 T C 10: 88,657,931 (GRCm39) D43G probably benign Het
Vmn1r58 T G 7: 5,413,997 (GRCm39) K78Q possibly damaging Het
Vmn2r10 T C 5: 109,151,327 (GRCm39) M96V probably benign Het
Wdr90 T C 17: 26,079,023 (GRCm39) E273G probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zscan21 T C 5: 138,131,865 (GRCm39) I463T possibly damaging 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
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
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'- GCCCTTTTCAGCAACAAGACCTCAG -3'
(R):5'- AGGGGAATGTTGGTTTGTCTCACAC -3'

Sequencing Primer
(F):5'- AGACCTCAGTGTGCCTTTAAGTG -3'
(R):5'- GCTGATCAACTGCGTGTTGA -3'
Posted On 2013-05-23