Incidental Mutation 'R5542:Fbxo7'
ID 436045
Institutional Source Beutler Lab
Gene Symbol Fbxo7
Ensembl Gene ENSMUSG00000001786
Gene Name F-box protein 7
Synonyms 2410015K21Rik, A230052G17Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 85857836-85887737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85869149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 201 (Q201P)
Ref Sequence ENSEMBL: ENSMUSP00000113222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001837] [ENSMUST00000117597] [ENSMUST00000120344] [ENSMUST00000130320] [ENSMUST00000147168]
AlphaFold Q3U7U3
Predicted Effect probably benign
Transcript: ENSMUST00000001837
SMART Domains Protein: ENSMUSP00000001837
Gene: ENSMUSG00000001786

DomainStartEndE-ValueType
Blast:UBQ 1 40 7e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000117597
AA Change: Q199P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113263
Gene: ENSMUSG00000001786
AA Change: Q199P

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 101 245 9.6e-31 PFAM
Pfam:F-box 250 297 2.7e-6 PFAM
Pfam:F-box-like 252 298 7.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120344
AA Change: Q201P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113222
Gene: ENSMUSG00000001786
AA Change: Q201P

DomainStartEndE-ValueType
Pfam:PI31_Prot_N 103 247 4.8e-31 PFAM
Pfam:F-box 252 299 1.8e-6 PFAM
Pfam:F-box-like 254 300 5.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130320
AA Change: Q280P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120840
Gene: ENSMUSG00000001786
AA Change: Q280P

DomainStartEndE-ValueType
SCOP:d1euvb_ 1 78 7e-6 SMART
Blast:UBQ 1 79 6e-30 BLAST
Pfam:PI31_Prot_N 188 323 4.7e-20 PFAM
Pfam:F-box 331 378 9.7e-6 PFAM
Pfam:F-box-like 333 379 9.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134490
Predicted Effect probably benign
Transcript: ENSMUST00000147168
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
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. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pro-B cell numbers and increased erythroid progenitor cell number. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(4) Gene trapped(3)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign Het
Other mutations in Fbxo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Fbxo7 APN 10 85,864,928 (GRCm39) missense probably damaging 0.98
IGL01483:Fbxo7 APN 10 85,880,445 (GRCm39) missense probably damaging 1.00
IGL02502:Fbxo7 APN 10 85,869,161 (GRCm39) missense probably damaging 1.00
IGL02712:Fbxo7 APN 10 85,860,302 (GRCm39) missense possibly damaging 0.75
P0007:Fbxo7 UTSW 10 85,869,157 (GRCm39) missense possibly damaging 0.95
R0410:Fbxo7 UTSW 10 85,865,102 (GRCm39) critical splice donor site probably null
R4119:Fbxo7 UTSW 10 85,857,759 (GRCm39) unclassified probably benign
R4604:Fbxo7 UTSW 10 85,882,666 (GRCm39) missense probably damaging 1.00
R4884:Fbxo7 UTSW 10 85,865,014 (GRCm39) missense probably damaging 0.99
R5088:Fbxo7 UTSW 10 85,857,784 (GRCm39) unclassified probably benign
R5286:Fbxo7 UTSW 10 85,857,954 (GRCm39) missense probably damaging 1.00
R5387:Fbxo7 UTSW 10 85,860,518 (GRCm39) missense probably benign 0.01
R5451:Fbxo7 UTSW 10 85,864,901 (GRCm39) missense probably benign 0.01
R5491:Fbxo7 UTSW 10 85,883,890 (GRCm39) missense probably damaging 1.00
R5647:Fbxo7 UTSW 10 85,864,974 (GRCm39) missense probably damaging 0.98
R6027:Fbxo7 UTSW 10 85,883,950 (GRCm39) missense probably damaging 1.00
R6152:Fbxo7 UTSW 10 85,860,560 (GRCm39) missense probably benign 0.01
R6280:Fbxo7 UTSW 10 85,864,969 (GRCm39) missense probably benign 0.00
R6615:Fbxo7 UTSW 10 85,880,398 (GRCm39) missense possibly damaging 0.48
R7405:Fbxo7 UTSW 10 85,880,445 (GRCm39) missense probably damaging 1.00
R8785:Fbxo7 UTSW 10 85,860,410 (GRCm39) missense probably benign 0.02
R9743:Fbxo7 UTSW 10 85,883,773 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTTGAGAGGAAGAATGGGCTCC -3'
(R):5'- GGGACAAATGATGCCCAAGC -3'

Sequencing Primer
(F):5'- CGAGCAGTTTGTTTGGAATAATTACC -3'
(R):5'- CGGTCAGGCTTCAGTTTT -3'
Posted On 2016-10-24