Incidental Mutation 'R3935:Bbof1'
ID 307145
Institutional Source Beutler Lab
Gene Symbol Bbof1
Ensembl Gene ENSMUSG00000057265
Gene Name basal body orientation factor 1
Synonyms 2900006K08Rik, Ccdc176
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R3935 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 84455243-84488279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84457984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 83 (D83G)
Ref Sequence ENSEMBL: ENSMUSP00000080512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000110272] [ENSMUST00000120942] [ENSMUST00000151789]
AlphaFold Q3V079
Predicted Effect probably damaging
Transcript: ENSMUST00000081828
AA Change: D83G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: D83G

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
Pfam:DUF4515 83 276 1.8e-44 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110272
SMART Domains Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120942
SMART Domains Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136511
Predicted Effect probably benign
Transcript: ENSMUST00000151789
SMART Domains Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
Pfam:DUF4515 1 138 6.7e-29 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arx T A X: 92,340,975 (GRCm39) L554Q probably damaging Het
Baz2b A G 2: 59,743,105 (GRCm39) V1622A possibly damaging Het
Ccdc47 T C 11: 106,092,823 (GRCm39) probably benign Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Dsc1 T A 18: 20,230,298 (GRCm39) T336S probably benign Het
Elk3 A G 10: 93,101,035 (GRCm39) S239P possibly damaging Het
Fbll1 T A 11: 35,688,475 (GRCm39) I263F probably damaging Het
Fbxw8 T G 5: 118,233,783 (GRCm39) I283L probably benign Het
Fcgbp T C 7: 27,774,824 (GRCm39) F133L probably benign Het
Gpr176 A G 2: 118,109,777 (GRCm39) V494A probably benign Het
Gpr85 A G 6: 13,836,044 (GRCm39) F287L probably benign Het
Hoxd11 A G 2: 74,514,376 (GRCm39) N302S probably benign Het
Iqgap1 T G 7: 80,393,585 (GRCm39) Y664S possibly damaging Het
Kansl1 A T 11: 104,234,369 (GRCm39) D712E possibly damaging Het
Kif1b T C 4: 149,321,617 (GRCm39) N1101D probably benign Het
Kyat1 A G 2: 30,075,761 (GRCm39) L376P probably damaging Het
Lztr1 T A 16: 17,340,059 (GRCm39) Y93* probably null Het
Nrip1 A G 16: 76,091,323 (GRCm39) M78T possibly damaging Het
P4hb A C 11: 120,453,235 (GRCm39) H440Q probably benign Het
Pbsn T C X: 76,891,702 (GRCm39) T32A probably damaging Het
Prg4 A G 1: 150,333,908 (GRCm39) I152T possibly damaging Het
Prss36 A G 7: 127,533,780 (GRCm39) L8P probably damaging Het
Prune2 T C 19: 17,177,150 (GRCm39) V2930A probably damaging Het
Ptchd4 G C 17: 42,814,380 (GRCm39) L760F possibly damaging Het
Rbms3 A G 9: 116,465,459 (GRCm39) L163P probably damaging Het
Scn1a T C 2: 66,158,120 (GRCm39) I418V probably damaging Het
Sf3a1 T A 11: 4,130,024 (GRCm39) probably null Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Slc16a7 C A 10: 125,066,712 (GRCm39) R309L probably damaging Het
Slc35f1 C T 10: 52,984,314 (GRCm39) T358I probably damaging Het
Slmap T C 14: 26,180,570 (GRCm39) E411G probably benign Het
Ssu72 C T 4: 155,789,876 (GRCm39) S13L probably benign Het
Sult2b1 C T 7: 45,391,640 (GRCm39) V49M probably benign Het
Tmem80 T C 7: 140,913,938 (GRCm39) Y30H probably damaging Het
Other mutations in Bbof1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01509:Bbof1 APN 12 84,457,859 (GRCm39) missense possibly damaging 0.92
IGL02572:Bbof1 APN 12 84,475,139 (GRCm39) missense probably damaging 1.00
IGL02933:Bbof1 APN 12 84,473,740 (GRCm39) missense probably damaging 1.00
IGL03099:Bbof1 APN 12 84,473,539 (GRCm39) nonsense probably null
P4717OSA:Bbof1 UTSW 12 84,473,734 (GRCm39) missense probably damaging 1.00
R0100:Bbof1 UTSW 12 84,457,829 (GRCm39) missense probably benign 0.00
R0100:Bbof1 UTSW 12 84,457,829 (GRCm39) missense probably benign 0.00
R0230:Bbof1 UTSW 12 84,471,978 (GRCm39) missense probably damaging 1.00
R0511:Bbof1 UTSW 12 84,477,045 (GRCm39) missense probably benign 0.02
R1506:Bbof1 UTSW 12 84,470,273 (GRCm39) missense probably damaging 0.97
R1920:Bbof1 UTSW 12 84,457,859 (GRCm39) missense possibly damaging 0.92
R2097:Bbof1 UTSW 12 84,460,081 (GRCm39) missense probably damaging 1.00
R2355:Bbof1 UTSW 12 84,470,223 (GRCm39) missense probably damaging 1.00
R4210:Bbof1 UTSW 12 84,455,957 (GRCm39) start codon destroyed probably null
R4321:Bbof1 UTSW 12 84,473,902 (GRCm39) nonsense probably null
R5001:Bbof1 UTSW 12 84,473,630 (GRCm39) missense possibly damaging 0.80
R5033:Bbof1 UTSW 12 84,458,044 (GRCm39) splice site probably null
R5244:Bbof1 UTSW 12 84,476,847 (GRCm39) missense possibly damaging 0.56
R6169:Bbof1 UTSW 12 84,473,588 (GRCm39) missense probably benign 0.02
R6295:Bbof1 UTSW 12 84,457,942 (GRCm39) missense possibly damaging 0.58
R7073:Bbof1 UTSW 12 84,473,609 (GRCm39) missense probably damaging 1.00
R7895:Bbof1 UTSW 12 84,466,763 (GRCm39) missense probably damaging 0.98
R8050:Bbof1 UTSW 12 84,457,991 (GRCm39) missense probably benign 0.01
R8163:Bbof1 UTSW 12 84,473,536 (GRCm39) missense possibly damaging 0.93
R8398:Bbof1 UTSW 12 84,475,188 (GRCm39) missense probably damaging 1.00
R8796:Bbof1 UTSW 12 84,460,068 (GRCm39) missense possibly damaging 0.80
R9352:Bbof1 UTSW 12 84,461,394 (GRCm39) missense probably benign 0.44
X0019:Bbof1 UTSW 12 84,473,567 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTGTCAATATCTTCTTCTGCAGG -3'
(R):5'- TAAGGGTTAACTCTGCCGGG -3'

Sequencing Primer
(F):5'- CTGCAGGAAAATAATCAAATCAGATG -3'
(R):5'- TAATCCTAGCACTTGGGAGGC -3'
Posted On 2015-04-17