Incidental Mutation 'R2359:Fbxo48'
ID 247076
Institutional Source Beutler Lab
Gene Symbol Fbxo48
Ensembl Gene ENSMUSG00000044966
Gene Name F-box protein 48
Synonyms A630050E13Rik
MMRRC Submission 040341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2359 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 16901375-16904772 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 16903602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 76 (W76*)
Ref Sequence ENSEMBL: ENSMUSP00000105263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061327] [ENSMUST00000109635]
AlphaFold Q8CAT8
Predicted Effect probably null
Transcript: ENSMUST00000061327
AA Change: W76*
SMART Domains Protein: ENSMUSP00000057901
Gene: ENSMUSG00000044966
AA Change: W76*

DomainStartEndE-ValueType
FBOX 38 79 6.45e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109635
AA Change: W76*
SMART Domains Protein: ENSMUSP00000105263
Gene: ENSMUSG00000044966
AA Change: W76*

DomainStartEndE-ValueType
FBOX 38 79 6.45e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142777
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,133,984 (GRCm39) E484G possibly damaging Het
Akr1c20 C T 13: 4,573,276 (GRCm39) G13D probably damaging Het
Alkbh3 T C 2: 93,838,458 (GRCm39) T38A probably benign Het
Anxa9 A C 3: 95,210,062 (GRCm39) L99R probably damaging Het
Arfgef2 A T 2: 166,702,539 (GRCm39) Y826F probably damaging Het
Arid2 G T 15: 96,259,759 (GRCm39) L306F probably damaging Het
Ccdc141 C T 2: 77,000,746 (GRCm39) V29M probably damaging Het
Cd55b A G 1: 130,345,858 (GRCm39) S187P probably damaging Het
Cep63 A C 9: 102,471,763 (GRCm39) L526V possibly damaging Het
Chtf8 G T 8: 107,612,048 (GRCm39) probably null Het
Clca4b T A 3: 144,631,003 (GRCm39) S286C probably damaging Het
Cpsf1 A G 15: 76,481,873 (GRCm39) V1080A probably benign Het
Csf2rb2 C T 15: 78,176,976 (GRCm39) V165I probably benign Het
Cyp2c40 A T 19: 39,766,398 (GRCm39) V399E probably damaging Het
Dnmt3a T C 12: 3,951,599 (GRCm39) S659P probably damaging Het
Efcab3 T C 11: 104,630,106 (GRCm39) S967P possibly damaging Het
Efr3b G A 12: 4,030,136 (GRCm39) probably benign Het
Epha8 A G 4: 136,673,343 (GRCm39) I147T probably damaging Het
Ggt6 A T 11: 72,328,377 (GRCm39) L254F possibly damaging Het
Gm4204 T A 1: 135,159,927 (GRCm39) noncoding transcript Het
Golph3l A G 3: 95,499,275 (GRCm39) probably null Het
Gtf2h3 A G 5: 124,728,939 (GRCm39) K166R probably damaging Het
Hsp90aa1 A G 12: 110,661,003 (GRCm39) probably null Het
Hyi A G 4: 118,217,538 (GRCm39) R79G probably benign Het
Igbp1b G A 6: 138,634,713 (GRCm39) P244S probably damaging Het
Ipo8 G A 6: 148,717,975 (GRCm39) probably benign Het
Larp4b C A 13: 9,208,199 (GRCm39) T391K probably damaging Het
Lrba T C 3: 86,256,057 (GRCm39) V1133A probably benign Het
Med13 C T 11: 86,181,861 (GRCm39) probably benign Het
Ncapd2 A G 6: 125,156,379 (GRCm39) probably benign Het
Neurl1b T C 17: 26,660,569 (GRCm39) F299L probably benign Het
Nosip G A 7: 44,723,450 (GRCm39) A39T possibly damaging Het
Nsd1 A G 13: 55,361,524 (GRCm39) D164G possibly damaging Het
Ntn1 G A 11: 68,276,438 (GRCm39) T170M probably damaging Het
Polrmt A T 10: 79,572,396 (GRCm39) L1079Q probably damaging Het
Prxl2c A T 13: 64,460,465 (GRCm39) C12S probably benign Het
Rab30 A G 7: 92,485,005 (GRCm39) D129G possibly damaging Het
Rwdd2b C T 16: 87,233,809 (GRCm39) S97N probably benign Het
Slitrk3 T G 3: 72,956,678 (GRCm39) D698A possibly damaging Het
Smarcd2 T C 11: 106,157,990 (GRCm39) M93V probably benign Het
Tmprss4 A G 9: 45,097,130 (GRCm39) V45A probably benign Het
Vmn1r22 A T 6: 57,877,974 (GRCm39) M1K probably null Het
Vps13a A G 19: 16,630,043 (GRCm39) probably benign Het
Other mutations in Fbxo48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02587:Fbxo48 APN 11 16,903,659 (GRCm39) missense probably benign 0.21
R1574:Fbxo48 UTSW 11 16,903,368 (GRCm39) start gained probably benign
R1574:Fbxo48 UTSW 11 16,903,368 (GRCm39) start gained probably benign
R2877:Fbxo48 UTSW 11 16,903,382 (GRCm39) missense possibly damaging 0.82
R2878:Fbxo48 UTSW 11 16,903,382 (GRCm39) missense possibly damaging 0.82
R5288:Fbxo48 UTSW 11 16,904,329 (GRCm39) missense possibly damaging 0.71
R5384:Fbxo48 UTSW 11 16,904,329 (GRCm39) missense possibly damaging 0.71
R5385:Fbxo48 UTSW 11 16,904,329 (GRCm39) missense possibly damaging 0.71
R5491:Fbxo48 UTSW 11 16,904,280 (GRCm39) missense probably damaging 1.00
R6852:Fbxo48 UTSW 11 16,903,402 (GRCm39) missense probably benign 0.00
R7732:Fbxo48 UTSW 11 16,903,601 (GRCm39) missense probably damaging 1.00
R8249:Fbxo48 UTSW 11 16,903,433 (GRCm39) missense possibly damaging 0.52
R9103:Fbxo48 UTSW 11 16,903,556 (GRCm39) missense probably benign 0.15
R9626:Fbxo48 UTSW 11 16,904,333 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- ATTCCGCGGATGCTGAAAG -3'
(R):5'- CAGTGTGGAGACTATGCCAG -3'

Sequencing Primer
(F):5'- GGGGAAAAGAAGAGAGTCAACGTAAC -3'
(R):5'- CCTAAAGTCAGCATGCTCTGTATG -3'
Posted On 2014-10-30