Incidental Mutation 'IGL01960:Fbxw10'
ID 182351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw10
Ensembl Gene ENSMUSG00000090173
Gene Name F-box and WD-40 domain protein 10
Synonyms SM2SH2, SM25H2, Fbw10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01960
Quality Score
Status
Chromosome 11
Chromosomal Location 62737895-62768291 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62767582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 801 (Y801F)
Ref Sequence ENSEMBL: ENSMUSP00000117872 (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 damaging
Transcript: ENSMUST00000036085
AA Change: Y811F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: Y811F

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 damaging
Transcript: ENSMUST00000150989
AA Change: Y801F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: Y801F

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: Y806F

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: Y806F

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G A 4: 129,906,177 (GRCm39) probably benign Het
Adh7 T C 3: 137,932,043 (GRCm39) I219T probably damaging Het
Ankmy1 C A 1: 92,799,385 (GRCm39) probably benign Het
Aoc1 A G 6: 48,885,537 (GRCm39) I681V probably benign Het
Arfgap3 T C 15: 83,197,758 (GRCm39) T333A probably benign Het
Cdc42ep4 A G 11: 113,619,830 (GRCm39) V187A probably benign Het
Cyp4f40 G A 17: 32,878,535 (GRCm39) G26R probably benign Het
Dnah7b T A 1: 46,163,497 (GRCm39) probably benign Het
Dnajb4 T C 3: 151,892,176 (GRCm39) E219G probably damaging Het
Dnmt3b A G 2: 153,518,631 (GRCm39) K578R possibly damaging Het
Dst A T 1: 34,329,570 (GRCm39) D4649V probably damaging Het
Fam20c T C 5: 138,792,075 (GRCm39) S391P probably damaging Het
Frem2 T G 3: 53,429,725 (GRCm39) E2775A probably benign Het
Frmd4b A T 6: 97,272,741 (GRCm39) S830T possibly damaging Het
Gatad2a T G 8: 70,362,598 (GRCm39) S581R possibly damaging Het
Gpcpd1 C T 2: 132,381,818 (GRCm39) probably null Het
Igsf10 A G 3: 59,226,158 (GRCm39) L2505P probably benign Het
Igsf9b A G 9: 27,239,902 (GRCm39) D649G possibly damaging Het
Impact T C 18: 13,107,815 (GRCm39) C28R probably benign Het
Ino80d G T 1: 63,097,306 (GRCm39) Q863K probably damaging Het
Iqsec1 A C 6: 90,653,762 (GRCm39) M675R probably damaging Het
Kcng3 C T 17: 83,895,279 (GRCm39) V396I probably damaging Het
Klhl18 A T 9: 110,279,814 (GRCm39) D60E probably benign Het
Krtap7-1 C T 16: 89,305,156 (GRCm39) probably benign Het
Mal2 T A 15: 54,461,941 (GRCm39) Y145* probably null Het
Mcpt8 A T 14: 56,319,864 (GRCm39) probably null Het
Mdn1 A G 4: 32,758,393 (GRCm39) D4810G probably benign Het
Med24 T C 11: 98,598,368 (GRCm39) I766V probably benign Het
Mga G A 2: 119,769,138 (GRCm39) V1477M probably damaging Het
Mybph T A 1: 134,121,663 (GRCm39) V112E probably benign Het
Nmur2 A T 11: 55,931,337 (GRCm39) S125T probably damaging Het
Or2w3 T C 11: 58,556,691 (GRCm39) V102A probably benign Het
Or6c212 A G 10: 129,558,756 (GRCm39) I219T probably damaging Het
Or8b44 A T 9: 38,410,003 (GRCm39) I13F probably damaging Het
Otop3 A G 11: 115,231,795 (GRCm39) N220S probably damaging Het
Pacsin1 T G 17: 27,923,809 (GRCm39) probably null Het
Pcsk1 A G 13: 75,241,286 (GRCm39) R89G possibly damaging Het
Pde2a A T 7: 101,153,947 (GRCm39) E509V probably benign Het
Pex1 T C 5: 3,677,588 (GRCm39) probably benign Het
Ppp4r4 T G 12: 103,547,753 (GRCm39) probably benign Het
Pygb T A 2: 150,655,403 (GRCm39) N251K probably benign Het
Rsf1 C T 7: 97,310,782 (GRCm39) T504I probably benign Het
Slc5a11 A T 7: 122,869,163 (GRCm39) T584S probably benign Het
Smad2 G A 18: 76,395,555 (GRCm39) probably benign Het
Srsf6 G A 2: 162,775,674 (GRCm39) R161H probably damaging Het
Tbx3 T A 5: 119,820,708 (GRCm39) S573T probably benign Het
Tecpr1 C T 5: 144,153,737 (GRCm39) R172Q probably benign Het
Ttn T A 2: 76,619,244 (GRCm39) probably null Het
Ubr2 T C 17: 47,284,893 (GRCm39) M542V probably benign Het
Unc80 T C 1: 66,647,659 (GRCm39) probably benign Het
Vmn1r222 T A 13: 23,416,315 (GRCm39) K299N probably benign Het
Wwp1 A T 4: 19,662,115 (GRCm39) probably benign Het
Zbtb46 T A 2: 181,065,928 (GRCm39) H74L possibly damaging Het
Zfp106 A T 2: 120,354,524 (GRCm39) L1416I probably damaging Het
Zfp106 A G 2: 120,369,803 (GRCm39) L73S probably benign Het
Zfp667 G A 7: 6,308,336 (GRCm39) G335R 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
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
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
Posted On 2014-05-07