Incidental Mutation 'R2040:Fbh1'
ID 225479
Institutional Source Beutler Lab
Gene Symbol Fbh1
Ensembl Gene ENSMUSG00000058594
Gene Name F-box DNA helicase 1
Synonyms Fbx18, Fbxo18
MMRRC Submission 040047-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R2040 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 11747384-11782393 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11774706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 13 (D13A)
Ref Sequence ENSEMBL: ENSMUSP00000071495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071564]
AlphaFold Q8K2I9
Predicted Effect possibly damaging
Transcript: ENSMUST00000071564
AA Change: D13A

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
AA Change: D13A

DomainStartEndE-ValueType
FBOX 213 256 3.94e-3 SMART
Pfam:UvrD-helicase 626 692 8e-10 PFAM
Pfam:UvrD_C 862 935 1.7e-12 PFAM
Pfam:UvrD_C_2 867 931 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192171
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 99% (67/68)
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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A T 5: 107,693,607 (GRCm39) I75L probably benign Het
Abca2 T C 2: 25,333,817 (GRCm39) L1755P probably damaging Het
Adam6b A T 12: 113,454,364 (GRCm39) I394L probably benign Het
Ano2 T A 6: 126,016,471 (GRCm39) N1001K probably benign Het
Arap2 A T 5: 62,906,259 (GRCm39) N253K probably damaging Het
Ascc3 T C 10: 50,604,227 (GRCm39) C1316R probably benign Het
Atox1 T C 11: 55,341,343 (GRCm39) Y64C probably benign Het
Atp13a1 A G 8: 70,259,702 (GRCm39) T1098A possibly damaging Het
Casr T C 16: 36,330,728 (GRCm39) E202G possibly damaging Het
Cct2 T C 10: 116,889,018 (GRCm39) T494A probably benign Het
Cd209e T A 8: 3,899,158 (GRCm39) N185Y probably damaging Het
Celsr1 A G 15: 85,917,088 (GRCm39) L295P probably damaging Het
Cyp26a1 A G 19: 37,686,499 (GRCm39) T48A possibly damaging Het
Elovl3 A G 19: 46,121,567 (GRCm39) S37G probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Frem3 G T 8: 81,342,455 (GRCm39) V1583L possibly damaging Het
Gm21863 C A 12: 20,004,515 (GRCm39) Q4K possibly damaging Het
Gm266 T C 12: 111,452,132 (GRCm39) T25A possibly damaging Het
Gm8674 T C 13: 50,055,705 (GRCm39) noncoding transcript Het
Greb1 T C 12: 16,752,651 (GRCm39) H897R probably damaging Het
Hells A G 19: 38,943,474 (GRCm39) D565G probably damaging Het
Hfm1 C T 5: 107,049,684 (GRCm39) V426I probably damaging Het
Ints6 G A 14: 62,951,138 (GRCm39) T297I probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kmt2b A T 7: 30,268,845 (GRCm39) M2628K probably damaging Het
Ktn1 T G 14: 47,938,069 (GRCm39) probably benign Het
Lyst T A 13: 13,815,807 (GRCm39) D1230E probably benign Het
Mboat1 T C 13: 30,425,300 (GRCm39) probably null Het
Moxd2 T C 6: 40,861,887 (GRCm39) probably null Het
Mtmr4 T C 11: 87,495,916 (GRCm39) M527T probably damaging Het
Myt1 T A 2: 181,467,717 (GRCm39) N1050K probably damaging Het
Ncoa6 A T 2: 155,248,000 (GRCm39) V1768E probably damaging Het
Nelfcd G A 2: 174,261,875 (GRCm39) C48Y probably damaging Het
Opn3 G A 1: 175,491,145 (GRCm39) A296V possibly damaging Het
Or13a22 T C 7: 140,073,295 (GRCm39) I248T probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Pam T C 1: 97,792,167 (GRCm39) E418G possibly damaging Het
Prrc2c A T 1: 162,525,126 (GRCm39) N493K probably damaging Het
Ptpn18 A G 1: 34,509,300 (GRCm39) Q165R probably damaging Het
Ptpro C A 6: 137,363,162 (GRCm39) probably benign Het
Ralgapa1 A G 12: 55,833,107 (GRCm39) F132S probably damaging Het
Robo1 T C 16: 72,730,630 (GRCm39) C244R probably damaging Het
Robo3 A C 9: 37,338,760 (GRCm39) V316G probably damaging Het
Rsl1 T C 13: 67,330,145 (GRCm39) S198P probably damaging Het
Rsph9 T C 17: 46,445,910 (GRCm39) D220G probably damaging Het
Rxfp2 A C 5: 149,993,677 (GRCm39) I580L probably benign Het
Septin7 G A 9: 25,199,532 (GRCm39) A144T possibly damaging Het
Sfn T C 4: 133,328,603 (GRCm39) K160E probably benign Het
Ski A G 4: 155,306,029 (GRCm39) Y317H probably damaging Het
Skic3 A C 13: 76,328,222 (GRCm39) R1423S probably damaging Het
Slc22a22 A T 15: 57,110,936 (GRCm39) Y430* probably null Het
Src A G 2: 157,299,030 (GRCm39) K9R probably benign Het
Srm C T 4: 148,678,453 (GRCm39) P255L possibly damaging Het
Stpg4 T A 17: 87,730,075 (GRCm39) N90I probably damaging Het
Sytl2 T A 7: 90,031,069 (GRCm39) probably benign Het
Tbpl2 T C 2: 23,984,871 (GRCm39) K92R probably benign Het
Tlcd4 G T 3: 121,024,975 (GRCm39) probably benign Het
Tmem38a T A 8: 73,335,096 (GRCm39) N178K probably damaging Het
Tnfaip3 T C 10: 18,883,900 (GRCm39) D160G possibly damaging Het
Vegfb T A 19: 6,963,407 (GRCm39) H119L possibly damaging Het
Vmn2r111 T A 17: 22,767,395 (GRCm39) I701F probably damaging Het
Vmn2r95 C T 17: 18,661,561 (GRCm39) L436F probably damaging Het
Wdr47 T C 3: 108,530,688 (GRCm39) C394R probably benign Het
Ythdc2 T A 18: 44,988,241 (GRCm39) Y16* probably null Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp353-ps A G 8: 42,535,333 (GRCm39) noncoding transcript Het
Other mutations in Fbh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Fbh1 APN 2 11,762,334 (GRCm39) nonsense probably null
IGL02081:Fbh1 APN 2 11,768,938 (GRCm39) missense probably benign 0.31
IGL02082:Fbh1 APN 2 11,768,938 (GRCm39) missense probably benign 0.31
IGL02084:Fbh1 APN 2 11,768,938 (GRCm39) missense probably benign 0.31
IGL02086:Fbh1 APN 2 11,768,938 (GRCm39) missense probably benign 0.31
IGL02369:Fbh1 APN 2 11,751,969 (GRCm39) missense possibly damaging 0.61
IGL02584:Fbh1 APN 2 11,764,769 (GRCm39) missense probably benign 0.07
IGL03138:Fbh1 UTSW 2 11,754,320 (GRCm39) intron probably benign
R0384:Fbh1 UTSW 2 11,754,389 (GRCm39) missense probably damaging 1.00
R0479:Fbh1 UTSW 2 11,763,230 (GRCm39) missense probably damaging 1.00
R0972:Fbh1 UTSW 2 11,768,899 (GRCm39) splice site probably benign
R1420:Fbh1 UTSW 2 11,772,493 (GRCm39) missense probably benign 0.01
R1827:Fbh1 UTSW 2 11,768,699 (GRCm39) missense possibly damaging 0.88
R1832:Fbh1 UTSW 2 11,772,211 (GRCm39) missense probably benign 0.08
R1960:Fbh1 UTSW 2 11,762,339 (GRCm39) missense probably damaging 0.98
R2044:Fbh1 UTSW 2 11,767,781 (GRCm39) missense possibly damaging 0.89
R2102:Fbh1 UTSW 2 11,763,100 (GRCm39) missense probably benign 0.18
R3236:Fbh1 UTSW 2 11,774,637 (GRCm39) missense probably damaging 1.00
R3975:Fbh1 UTSW 2 11,772,021 (GRCm39) missense possibly damaging 0.72
R4504:Fbh1 UTSW 2 11,753,828 (GRCm39) missense possibly damaging 0.91
R4505:Fbh1 UTSW 2 11,753,828 (GRCm39) missense possibly damaging 0.91
R4507:Fbh1 UTSW 2 11,753,828 (GRCm39) missense possibly damaging 0.91
R4799:Fbh1 UTSW 2 11,760,558 (GRCm39) missense probably damaging 1.00
R4894:Fbh1 UTSW 2 11,767,771 (GRCm39) missense probably damaging 1.00
R4994:Fbh1 UTSW 2 11,769,041 (GRCm39) missense probably damaging 1.00
R5579:Fbh1 UTSW 2 11,753,804 (GRCm39) missense probably damaging 0.97
R5801:Fbh1 UTSW 2 11,774,637 (GRCm39) missense probably damaging 1.00
R6255:Fbh1 UTSW 2 11,753,257 (GRCm39) missense probably benign 0.31
R7011:Fbh1 UTSW 2 11,767,774 (GRCm39) missense probably damaging 1.00
R7177:Fbh1 UTSW 2 11,760,522 (GRCm39) missense probably damaging 1.00
R7243:Fbh1 UTSW 2 11,756,336 (GRCm39) missense probably benign 0.11
R7331:Fbh1 UTSW 2 11,768,797 (GRCm39) missense probably benign
R7361:Fbh1 UTSW 2 11,751,887 (GRCm39) missense probably damaging 1.00
R7460:Fbh1 UTSW 2 11,761,496 (GRCm39) missense probably benign 0.38
R7541:Fbh1 UTSW 2 11,754,348 (GRCm39) missense probably benign 0.05
R8000:Fbh1 UTSW 2 11,772,100 (GRCm39) missense probably benign 0.21
R8010:Fbh1 UTSW 2 11,772,443 (GRCm39) missense probably benign 0.15
R8056:Fbh1 UTSW 2 11,748,441 (GRCm39) missense probably benign 0.01
R8517:Fbh1 UTSW 2 11,782,241 (GRCm39) critical splice donor site probably null
R8686:Fbh1 UTSW 2 11,760,469 (GRCm39) missense probably benign 0.00
R8883:Fbh1 UTSW 2 11,753,922 (GRCm39) missense probably benign 0.21
R9093:Fbh1 UTSW 2 11,764,801 (GRCm39) missense probably damaging 1.00
R9306:Fbh1 UTSW 2 11,772,387 (GRCm39) missense probably benign 0.00
R9342:Fbh1 UTSW 2 11,754,414 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CGGAAGACATTCAAAGGCAC -3'
(R):5'- AACAAGTTGGGTTTGTTCAAGG -3'

Sequencing Primer
(F):5'- GGCACACTAACCACAGATTTTG -3'
(R):5'- GGTGGCCATAAATGTTCTTAAATGC -3'
Posted On 2014-08-25