Incidental Mutation 'R4025:Fbxl7'
ID 313463
Institutional Source Beutler Lab
Gene Symbol Fbxl7
Ensembl Gene ENSMUSG00000043556
Gene Name F-box and leucine-rich repeat protein 7
Synonyms FBL7, Fbl6, D230018M15Rik
MMRRC Submission 040958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4025 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 26540540-26895650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26552905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 121 (S121P)
Ref Sequence ENSEMBL: ENSMUSP00000061305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059204]
AlphaFold Q5BJ29
Predicted Effect probably benign
Transcript: ENSMUST00000059204
AA Change: S121P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000061305
Gene: ENSMUSG00000043556
AA Change: S121P

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
low complexity region 73 79 N/A INTRINSIC
FBOX 117 157 2.7e-11 SMART
LRR_CC 185 210 2e-7 SMART
LRR_CC 211 236 2.1e-7 SMART
LRR 237 262 6.3e-7 SMART
LRR 271 296 3.5e-1 SMART
LRR_CC 297 322 1.7e-8 SMART
LRR_CC 323 348 5.5e-8 SMART
LRR_CC 349 374 6.5e-8 SMART
LRR_CC 375 400 9.1e-10 SMART
LRR_CC 401 426 2.1e-8 SMART
LRR_CC 427 452 1.8e-7 SMART
Blast:LRR 453 477 2e-7 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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 a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Atad5 A G 11: 80,011,512 (GRCm39) D1293G probably damaging Het
Cacna1a C T 8: 85,307,962 (GRCm39) T1409I probably damaging Het
Cdk5rap2 T A 4: 70,168,624 (GRCm39) K1428N probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Gm9920 A G 15: 54,975,966 (GRCm39) R25G probably benign Het
Golgb1 C T 16: 36,735,706 (GRCm39) A1651V probably benign Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Mctp2 C A 7: 71,739,987 (GRCm39) C801F possibly damaging Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nutm2 A G 13: 50,623,389 (GRCm39) I29V probably benign Het
Odf2 C T 2: 29,816,827 (GRCm39) R763W probably damaging Het
Or8d4 T C 9: 40,038,796 (GRCm39) T154A probably benign Het
Papss2 T C 19: 32,629,323 (GRCm39) I304T probably damaging Het
Polr2a T A 11: 69,634,485 (GRCm39) I693F possibly damaging Het
Ppm1d T A 11: 85,236,583 (GRCm39) I454N probably benign Het
Ranbp2 A G 10: 58,316,378 (GRCm39) E2366G probably benign Het
Slc22a20 T C 19: 6,035,808 (GRCm39) T121A probably damaging Het
Slc4a3 T C 1: 75,525,685 (GRCm39) S262P probably damaging Het
Slfn4 A T 11: 83,078,040 (GRCm39) N276I probably damaging Het
Spag7 C A 11: 70,555,300 (GRCm39) E130D probably damaging Het
Spns1 A T 7: 125,976,118 (GRCm39) C28* probably null Het
Stab1 C T 14: 30,876,909 (GRCm39) G805D possibly damaging Het
Swi5 T C 2: 32,171,800 (GRCm39) D41G possibly damaging Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uxs1 T C 1: 43,841,776 (GRCm39) probably benign Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Xirp2 A G 2: 67,341,746 (GRCm39) D1329G probably benign Het
Other mutations in Fbxl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Fbxl7 APN 15 26,789,649 (GRCm39) missense probably damaging 0.98
R0482:Fbxl7 UTSW 15 26,543,632 (GRCm39) missense probably benign 0.06
R1734:Fbxl7 UTSW 15 26,543,735 (GRCm39) missense probably damaging 1.00
R1826:Fbxl7 UTSW 15 26,552,851 (GRCm39) missense possibly damaging 0.59
R1859:Fbxl7 UTSW 15 26,543,279 (GRCm39) missense probably damaging 1.00
R2410:Fbxl7 UTSW 15 26,895,111 (GRCm39) missense possibly damaging 0.79
R3703:Fbxl7 UTSW 15 26,543,841 (GRCm39) missense probably damaging 1.00
R3704:Fbxl7 UTSW 15 26,543,841 (GRCm39) missense probably damaging 1.00
R4387:Fbxl7 UTSW 15 26,543,345 (GRCm39) missense probably damaging 1.00
R5055:Fbxl7 UTSW 15 26,553,022 (GRCm39) missense probably damaging 0.98
R5070:Fbxl7 UTSW 15 26,789,640 (GRCm39) missense probably benign 0.15
R5180:Fbxl7 UTSW 15 26,543,507 (GRCm39) missense probably damaging 1.00
R5260:Fbxl7 UTSW 15 26,543,585 (GRCm39) missense probably damaging 1.00
R5720:Fbxl7 UTSW 15 26,552,979 (GRCm39) missense probably damaging 0.98
R6256:Fbxl7 UTSW 15 26,553,088 (GRCm39) missense probably benign 0.16
R6874:Fbxl7 UTSW 15 26,553,028 (GRCm39) missense probably benign
R7143:Fbxl7 UTSW 15 26,543,244 (GRCm39) missense probably benign
R7941:Fbxl7 UTSW 15 26,543,699 (GRCm39) missense probably damaging 1.00
R8848:Fbxl7 UTSW 15 26,552,902 (GRCm39) missense probably benign
R9211:Fbxl7 UTSW 15 26,789,616 (GRCm39) missense probably damaging 0.99
R9402:Fbxl7 UTSW 15 26,552,589 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACTGACAATGACAGTCTCCAGC -3'
(R):5'- CACCGACTTTGCCAGGATTTC -3'

Sequencing Primer
(F):5'- ATGACAGTCTCCAGCATGAG -3'
(R):5'- CCGACTTTGCCAGGATTTCAGAATG -3'
Posted On 2015-04-30