Incidental Mutation 'R4523:Fbxo41'
ID 334303
Institutional Source Beutler Lab
Gene Symbol Fbxo41
Ensembl Gene ENSMUSG00000047013
Gene Name F-box protein 41
Synonyms D6Ertd538e
MMRRC Submission 042004-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R4523 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 85446556-85479976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85461024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 228 (I228T)
Ref Sequence ENSEMBL: ENSMUSP00000124754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159062] [ENSMUST00000161078] [ENSMUST00000161546]
AlphaFold Q6NS60
Predicted Effect probably damaging
Transcript: ENSMUST00000159062
AA Change: I228T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: I228T

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161078
AA Change: I228T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: I228T

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
Pfam:F-box 536 592 4.8e-5 PFAM
Pfam:F-box-like 554 593 9e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161546
AA Change: I228T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: I228T

DomainStartEndE-ValueType
ZnF_C2H2 8 33 5.81e-2 SMART
low complexity region 65 77 N/A INTRINSIC
low complexity region 100 122 N/A INTRINSIC
low complexity region 162 192 N/A INTRINSIC
SCOP:d1eq1a_ 197 340 2e-5 SMART
low complexity region 352 374 N/A INTRINSIC
low complexity region 425 440 N/A INTRINSIC
low complexity region 519 540 N/A INTRINSIC
Pfam:F-box-like 554 593 5.6e-10 PFAM
low complexity region 745 759 N/A INTRINSIC
Meta Mutation Damage Score 0.2564 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and premature death by 10 weeks, growth retardation, abnormal gait, dragging hindlimbs, ataxia, impaired balance, impaired coordination, tremors and abnormal neuronal migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 G T 5: 67,824,943 (GRCm39) T796K probably benign Het
Atr T C 9: 95,744,916 (GRCm39) S78P probably damaging Het
Calb2 C T 8: 110,875,141 (GRCm39) probably null Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdca7 A G 2: 72,310,042 (GRCm39) S77G probably damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Cnot2 C T 10: 116,417,379 (GRCm39) probably benign Het
Cstf2t T A 19: 31,060,482 (GRCm39) V6D possibly damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Dido1 T C 2: 180,314,085 (GRCm39) I852V probably damaging Het
Dmgdh C T 13: 93,825,138 (GRCm39) Q154* probably null Het
Dnah12 T C 14: 26,491,979 (GRCm39) F1138S probably damaging Het
Dnah12 G A 14: 26,598,915 (GRCm39) A998T possibly damaging Het
Dusp5 T G 19: 53,526,032 (GRCm39) Y225D probably damaging Het
Fam193a G A 5: 34,600,715 (GRCm39) D601N probably benign Het
Fmo2 T C 1: 162,715,277 (GRCm39) K115R probably benign Het
Gak G T 5: 108,724,432 (GRCm39) Q1093K probably benign Het
Gm5277 G T 3: 78,799,493 (GRCm39) noncoding transcript Het
Hgsnat A G 8: 26,458,389 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,120 (GRCm39) T410A probably benign Het
Irag1 T C 7: 110,523,048 (GRCm39) M338V probably benign Het
Map3k3 G A 11: 106,039,694 (GRCm39) R278H probably damaging Het
Muc4 T C 16: 32,555,154 (GRCm39) probably benign Het
Nectin3 C A 16: 46,268,953 (GRCm39) R483L probably benign Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Olfml2b T C 1: 170,496,791 (GRCm39) I474T probably benign Het
Optc G T 1: 133,831,492 (GRCm39) T138K possibly damaging Het
Or7g25 T C 9: 19,160,525 (GRCm39) T57A probably damaging Het
Or8k22 C G 2: 86,163,644 (GRCm39) D19H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pard3 C T 8: 128,125,108 (GRCm39) P421S probably benign Het
Pcdhb22 G T 18: 37,653,474 (GRCm39) E647D probably benign Het
Pclo A G 5: 14,730,006 (GRCm39) probably benign Het
Prkce G T 17: 86,798,178 (GRCm39) probably null Het
Prr12 T C 7: 44,697,947 (GRCm39) D656G unknown Het
Ptprk A T 10: 28,342,048 (GRCm39) D485V probably damaging Het
Ptprn2 T C 12: 116,839,620 (GRCm39) L381P probably damaging Het
Rnf144b T C 13: 47,361,013 (GRCm39) I51T probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Sh3glb2 A T 2: 30,240,711 (GRCm39) V118E probably damaging Het
Sipa1l2 C T 8: 126,219,163 (GRCm39) G58D probably damaging Het
Slc5a4a C T 10: 75,984,196 (GRCm39) A46V probably damaging Het
Spmip8 T A 8: 96,039,638 (GRCm39) Y18* probably null Het
Tgm7 C A 2: 120,929,069 (GRCm39) probably null Het
Tjap1 A G 17: 46,569,718 (GRCm39) V424A probably benign Het
Trpm6 A T 19: 18,773,864 (GRCm39) I414F probably damaging Het
Tsr3 C G 17: 25,460,723 (GRCm39) D196E probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zcchc4 A G 5: 52,941,409 (GRCm39) D68G probably damaging Het
Other mutations in Fbxo41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Fbxo41 APN 6 85,455,084 (GRCm39) splice site probably null
IGL00919:Fbxo41 APN 6 85,455,552 (GRCm39) missense probably damaging 1.00
IGL01135:Fbxo41 APN 6 85,454,890 (GRCm39) missense probably benign 0.41
IGL02084:Fbxo41 APN 6 85,457,747 (GRCm39) critical splice donor site probably null
IGL02343:Fbxo41 APN 6 85,455,153 (GRCm39) missense possibly damaging 0.78
IGL03284:Fbxo41 APN 6 85,456,747 (GRCm39) missense probably damaging 1.00
R0116:Fbxo41 UTSW 6 85,454,890 (GRCm39) missense probably damaging 1.00
R0452:Fbxo41 UTSW 6 85,455,164 (GRCm39) missense probably damaging 1.00
R2064:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R2065:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R2067:Fbxo41 UTSW 6 85,455,453 (GRCm39) nonsense probably null
R3433:Fbxo41 UTSW 6 85,454,613 (GRCm39) missense probably damaging 1.00
R3522:Fbxo41 UTSW 6 85,461,163 (GRCm39) missense probably benign 0.00
R4086:Fbxo41 UTSW 6 85,455,528 (GRCm39) missense possibly damaging 0.93
R4520:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4521:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4522:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4524:Fbxo41 UTSW 6 85,461,024 (GRCm39) missense probably damaging 1.00
R4867:Fbxo41 UTSW 6 85,452,176 (GRCm39) missense probably benign
R4970:Fbxo41 UTSW 6 85,454,906 (GRCm39) missense probably damaging 1.00
R5000:Fbxo41 UTSW 6 85,460,901 (GRCm39) missense probably damaging 0.98
R5112:Fbxo41 UTSW 6 85,454,906 (GRCm39) missense probably damaging 1.00
R5330:Fbxo41 UTSW 6 85,456,888 (GRCm39) missense probably benign
R5331:Fbxo41 UTSW 6 85,456,888 (GRCm39) missense probably benign
R5334:Fbxo41 UTSW 6 85,455,465 (GRCm39) missense probably damaging 1.00
R5595:Fbxo41 UTSW 6 85,456,883 (GRCm39) missense probably benign 0.00
R5632:Fbxo41 UTSW 6 85,461,486 (GRCm39) missense probably damaging 1.00
R5698:Fbxo41 UTSW 6 85,454,638 (GRCm39) missense possibly damaging 0.88
R5801:Fbxo41 UTSW 6 85,461,515 (GRCm39) missense probably damaging 0.97
R5854:Fbxo41 UTSW 6 85,452,076 (GRCm39) missense probably damaging 1.00
R6258:Fbxo41 UTSW 6 85,455,537 (GRCm39) missense probably damaging 1.00
R6260:Fbxo41 UTSW 6 85,455,537 (GRCm39) missense probably damaging 1.00
R6615:Fbxo41 UTSW 6 85,455,505 (GRCm39) missense possibly damaging 0.60
R7061:Fbxo41 UTSW 6 85,452,448 (GRCm39) missense probably benign 0.36
R7353:Fbxo41 UTSW 6 85,456,958 (GRCm39) missense possibly damaging 0.71
R7681:Fbxo41 UTSW 6 85,455,461 (GRCm39) nonsense probably null
R8077:Fbxo41 UTSW 6 85,450,211 (GRCm39) missense probably damaging 0.98
R8801:Fbxo41 UTSW 6 85,461,663 (GRCm39) missense probably damaging 1.00
X0024:Fbxo41 UTSW 6 85,455,452 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGAAGCCAGCAGTTCCAC -3'
(R):5'- AATCGAAATCCCACTCGGCG -3'

Sequencing Primer
(F):5'- CGCTCACGTCCACTTGG -3'
(R):5'- AAGTCCGTGGCATCCTCTG -3'
Posted On 2015-08-18