Incidental Mutation 'R9520:Fbxw10'
ID 718838
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9520 (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 62750842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 475 (S475N)
Ref Sequence ENSEMBL: ENSMUSP00000135870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]
AlphaFold Q5SUS0
Predicted Effect probably damaging
Transcript: ENSMUST00000036085
AA Change: S485N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: S485N

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: S475N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: S475N

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: S475N

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: S475N

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: S475N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: S475N

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: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Ackr3 T A 1: 90,141,971 (GRCm39) Y143* probably null Het
Actn1 A T 12: 80,240,417 (GRCm39) D223E probably damaging Het
Apcdd1 C T 18: 63,083,190 (GRCm39) T340I possibly damaging Het
B4galnt1 G A 10: 127,006,580 (GRCm39) E375K probably damaging Het
Cacna1b A T 2: 24,651,799 (GRCm39) S127T probably damaging Het
Cbr3 A G 16: 93,487,318 (GRCm39) D167G probably benign Het
Cdcp1 A T 9: 123,012,736 (GRCm39) N270K possibly damaging Het
Cep131 A G 11: 119,968,157 (GRCm39) V128A probably benign Het
Cfhr4 A G 1: 139,682,135 (GRCm39) S154P probably damaging Het
Chek1 T C 9: 36,625,121 (GRCm39) E320G probably benign Het
Cit T A 5: 116,079,954 (GRCm39) L755* probably null Het
Clstn2 A T 9: 97,414,763 (GRCm39) L377Q probably damaging Het
Cpne9 A T 6: 113,281,413 (GRCm39) D498V probably damaging Het
Csad A G 15: 102,097,102 (GRCm39) M1T probably null Het
Csmd3 A G 15: 47,561,608 (GRCm39) F1323L Het
Dennd2c A T 3: 103,044,484 (GRCm39) Q355L probably benign Het
Foxi3 A G 6: 70,937,676 (GRCm39) S303G probably damaging Het
Glra1 G C 11: 55,405,897 (GRCm39) F372L probably benign Het
Gm19410 A G 8: 36,262,637 (GRCm39) E858G probably benign Het
Gm7168 T A 17: 14,169,506 (GRCm39) V291D probably benign Het
Gpr15lg T A 14: 36,829,343 (GRCm39) T47S possibly damaging Het
Grin2b T C 6: 135,710,399 (GRCm39) Y1049C probably damaging Het
Grm2 A G 9: 106,525,230 (GRCm39) L24P Het
Guca1a T A 17: 47,711,335 (GRCm39) I4F probably benign Het
H6pd T C 4: 150,080,375 (GRCm39) I157V possibly damaging Het
Hectd3 T A 4: 116,857,882 (GRCm39) M605K probably damaging Het
Hsf2 T A 10: 57,371,996 (GRCm39) N32K probably damaging Het
Hspa1l T A 17: 35,196,972 (GRCm39) V337D probably damaging Het
Iigp1 A T 18: 60,523,451 (GRCm39) T190S probably benign Het
Iqgap1 T C 7: 80,393,869 (GRCm39) R622G probably benign Het
Lce1a1 A T 3: 92,554,109 (GRCm39) C122S unknown Het
Lrfn4 C T 19: 4,664,237 (GRCm39) R99H probably damaging Het
Lsm1 T A 8: 26,283,744 (GRCm39) V52E possibly damaging Het
Malrd1 G A 2: 16,079,631 (GRCm39) V1783I unknown Het
Mast4 T C 13: 102,925,532 (GRCm39) K464R probably damaging Het
Mpdz T C 4: 81,304,555 (GRCm39) D115G probably benign Het
Mtmr3 A T 11: 4,441,131 (GRCm39) H507Q probably damaging Het
Mycbp2 T A 14: 103,497,705 (GRCm39) M956L probably benign Het
Myo3b A G 2: 70,062,753 (GRCm39) T346A possibly damaging Het
Ndrg2 T C 14: 52,146,381 (GRCm39) I140V probably benign Het
Nsf A G 11: 103,804,709 (GRCm39) L144P probably damaging Het
Or2a25 T C 6: 42,889,051 (GRCm39) V198A probably damaging Het
Or8d2b C T 9: 38,789,039 (GRCm39) T189I probably benign Het
Pck1 G A 2: 172,997,854 (GRCm39) V308M probably damaging Het
Phip C T 9: 82,753,437 (GRCm39) R1769K possibly damaging Het
Plekhg1 T A 10: 3,906,822 (GRCm39) C635S Het
Ppp4r4 A G 12: 103,500,378 (GRCm39) I58V probably benign Het
Prkacb T C 3: 146,456,289 (GRCm39) Y170C probably damaging Het
Rnf145 A T 11: 44,452,336 (GRCm39) E438D possibly damaging Het
Rnf207 T C 4: 152,396,234 (GRCm39) Y510C probably damaging Het
Rph3a C T 5: 121,101,903 (GRCm39) C111Y probably damaging Het
Scaf8 C T 17: 3,248,285 (GRCm39) R1203W probably damaging Het
Sec23a T G 12: 59,031,974 (GRCm39) I448L probably benign Het
Slc22a27 T C 19: 7,843,227 (GRCm39) Y492C possibly damaging Het
Supv3l1 T C 10: 62,268,181 (GRCm39) K555E probably damaging Het
Tdrd3 T C 14: 87,724,696 (GRCm39) S372P probably damaging Het
Tgm1 A G 14: 55,942,296 (GRCm39) F685S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r11 T C 5: 109,201,455 (GRCm39) T350A probably benign Het
Vmn2r25 A T 6: 123,830,066 (GRCm39) Y28* probably null Het
Vmn2r85 T A 10: 130,254,993 (GRCm39) I564L probably benign Het
Wdr26 G T 1: 181,036,587 (GRCm39) T183K probably benign Het
Yjefn3 A T 8: 70,341,969 (GRCm39) Y97N probably damaging Het
Zbtb38 A T 9: 96,568,104 (GRCm39) D993E probably damaging Het
Zbtb45 T C 7: 12,742,012 (GRCm39) Q82R probably damaging Het
Zdhhc8 A G 16: 18,045,044 (GRCm39) V254A probably benign Het
Zfp648 A G 1: 154,081,221 (GRCm39) D460G probably benign Het
Zfp760 T G 17: 21,941,036 (GRCm39) N70K 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
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
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'- GGCAAAAGTCAGGTGTTGTG -3'
(R):5'- ATGCCGACATCTGATAGCTTAC -3'

Sequencing Primer
(F):5'- GGAAGGACACTAACTCTTTCCTC -3'
(R):5'- TGCCGACATCTGATAGCTTACAAATC -3'
Posted On 2022-07-18