Incidental Mutation 'R2211:Fbxw10'
ID 239394
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 040213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2211 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 62737895-62768291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62758361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 529 (T529A)
Ref Sequence ENSEMBL: ENSMUSP00000135294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]
AlphaFold Q5SUS0
Predicted Effect probably damaging
Transcript: ENSMUST00000036085
AA Change: T539A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: T539A

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 damaging
Transcript: ENSMUST00000150989
AA Change: T529A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: T529A

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 possibly damaging
Transcript: ENSMUST00000176577
AA Change: T529A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: T529A

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 damaging
Transcript: ENSMUST00000177336
AA Change: T529A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: T529A

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A G 8: 25,118,171 (GRCm39) S34P probably damaging Het
Adam23 T A 1: 63,612,288 (GRCm39) probably benign Het
Adcy10 A T 1: 165,345,781 (GRCm39) I277F probably damaging Het
Arfgef3 A T 10: 18,467,993 (GRCm39) S1736T possibly damaging Het
Arhgap21 A T 2: 20,886,451 (GRCm39) M242K possibly damaging Het
Arhgef18 T C 8: 3,437,680 (GRCm39) S268P possibly damaging Het
Astn1 A G 1: 158,484,876 (GRCm39) R4G probably benign Het
AU041133 G A 10: 81,986,755 (GRCm39) C135Y probably damaging Het
Cdc42bpb A G 12: 111,268,288 (GRCm39) V53A probably benign Het
Cdh23 T C 10: 60,301,783 (GRCm39) D428G possibly damaging Het
Cebpa T C 7: 34,819,891 (GRCm39) S350P probably damaging Het
Cftr A G 6: 18,214,279 (GRCm39) M152V probably null Het
Cpa4 A G 6: 30,583,649 (GRCm39) N255S possibly damaging Het
Ddx51 T A 5: 110,803,634 (GRCm39) D343E probably damaging Het
Dnah7a T C 1: 53,518,932 (GRCm39) I2942V probably benign Het
Dnajc1 G T 2: 18,397,286 (GRCm39) A9E probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Edem3 A G 1: 151,680,453 (GRCm39) D526G possibly damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Etaa1 G A 11: 17,902,686 (GRCm39) Q84* probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam149a G A 8: 45,794,046 (GRCm39) T674I probably damaging Het
Fam98a A G 17: 75,845,940 (GRCm39) probably null Het
Fat4 A G 3: 38,945,676 (GRCm39) N1523S possibly damaging Het
Gzf1 C T 2: 148,526,870 (GRCm39) A447V probably damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Hic1 T A 11: 75,060,210 (GRCm39) R46W possibly damaging Het
Id4 T A 13: 48,415,278 (GRCm39) L102Q probably damaging Het
Il3ra T C 14: 14,355,029 (GRCm38) C271R probably benign Het
Ints4 T C 7: 97,158,957 (GRCm39) I443T possibly damaging Het
Lmln A G 16: 32,930,148 (GRCm39) E535G probably benign Het
Lrrtm4 A G 6: 79,999,623 (GRCm39) H345R probably benign Het
Ltbp3 T C 19: 5,803,990 (GRCm39) I834T possibly damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Ms4a18 C A 19: 10,974,669 (GRCm39) V341L probably benign Het
Nbr1 T C 11: 101,458,090 (GRCm39) probably null Het
Nf1 T C 11: 79,334,890 (GRCm39) M914T probably benign Het
Notch3 T A 17: 32,366,952 (GRCm39) H861L probably benign Het
Nup58 A G 14: 60,470,089 (GRCm39) F341L probably damaging Het
Ogfod2 C A 5: 124,250,843 (GRCm39) probably null Het
Oit3 T C 10: 59,263,892 (GRCm39) D414G probably damaging Het
Or6c5c A T 10: 129,298,809 (GRCm39) K88M probably damaging Het
Or6c6c A G 10: 129,541,320 (GRCm39) H191R probably benign Het
Or8k32 T C 2: 86,368,857 (GRCm39) Y132C probably damaging Het
Or9q2 T A 19: 13,772,733 (GRCm39) M81L probably benign Het
Pals1 A T 12: 78,844,022 (GRCm39) K75N possibly damaging Het
Pcbp4 C A 9: 106,337,933 (GRCm39) H74Q probably benign Het
Pip5k1b A T 19: 24,356,214 (GRCm39) D241E probably damaging Het
Plcb2 T C 2: 118,554,015 (GRCm39) D102G probably benign Het
Plekha5 G A 6: 140,471,587 (GRCm39) E4K possibly damaging Het
Ppargc1a A C 5: 51,631,601 (GRCm39) S343A possibly damaging Het
Ppwd1 G A 13: 104,343,650 (GRCm39) S585L probably benign Het
Rarg T C 15: 102,147,959 (GRCm39) N284S probably benign Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Rp1 A C 1: 4,418,362 (GRCm39) S917A probably damaging Het
Rsf1 ATGGCG ATGGCGAGGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsph3b T C 17: 7,209,139 (GRCm39) S189G probably benign Het
Sec31b A T 19: 44,511,589 (GRCm39) L604Q probably damaging Het
Sema6b T A 17: 56,431,741 (GRCm39) I641F probably benign Het
Slc35f5 A T 1: 125,507,001 (GRCm39) I309F possibly damaging Het
Smarca4 A G 9: 21,597,325 (GRCm39) E1360G probably damaging Het
Spata31d1c T C 13: 65,183,753 (GRCm39) S432P probably benign Het
Spsb3 T C 17: 25,109,911 (GRCm39) probably null Het
Sptbn4 T C 7: 27,067,034 (GRCm39) D1960G probably damaging Het
Srgap1 A G 10: 121,689,645 (GRCm39) V345A possibly damaging Het
Tiam2 C A 17: 3,465,193 (GRCm39) C307* probably null Het
Trim43b T A 9: 88,967,302 (GRCm39) T444S possibly damaging Het
Trmt13 A G 3: 116,388,403 (GRCm39) I11T probably benign Het
Ylpm1 A T 12: 85,091,152 (GRCm39) R1073* probably null Het
Zfp524 T C 7: 5,020,918 (GRCm39) S149P probably damaging Het
Zfp777 T C 6: 48,020,819 (GRCm39) I312V 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
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
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'- CAAGGCAGAGTTCTAGGGTC -3'
(R):5'- AGGAGCAGACCTTCATGTCC -3'

Sequencing Primer
(F):5'- TCAGAGTGAGAGTCCTCTGC -3'
(R):5'- GAGCAGACCTTCATGTCCTTGTAAC -3'
Posted On 2014-10-15