Incidental Mutation 'IGL02933:Bbof1'
ID 364195
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02933
Quality Score
Status
Chromosome 12
Chromosomal Location 84455243-84488279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84473740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 357 (N357D)
Ref Sequence ENSEMBL: ENSMUSP00000080512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000151789] [ENSMUST00000153540]
AlphaFold Q3V079
Predicted Effect probably damaging
Transcript: ENSMUST00000081828
AA Change: N357D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: N357D

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: ENSMUST00000085192
SMART Domains Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 30 36 N/A INTRINSIC
Pfam:Aldedh 48 512 1.9e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151789
SMART Domains Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
Pfam:DUF4515 1 138 6.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153540
SMART Domains Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
Pfam:DUF4515 1 105 3.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222641
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik G T 7: 44,012,436 (GRCm39) S24Y possibly damaging Het
Adam15 T C 3: 89,250,790 (GRCm39) T609A possibly damaging Het
Ank1 C T 8: 23,612,881 (GRCm39) T1485I possibly damaging Het
Btn1a1 A G 13: 23,644,697 (GRCm39) F267S possibly damaging Het
C2cd2 A T 16: 97,693,401 (GRCm39) F157I probably benign Het
Cd55 T C 1: 130,380,261 (GRCm39) E239G probably damaging Het
Cnpy1 T A 5: 28,412,119 (GRCm39) H138L probably benign Het
Cpne4 T C 9: 104,896,966 (GRCm39) V373A possibly damaging Het
Dlg5 A T 14: 24,208,567 (GRCm39) S880T probably benign Het
Etv1 C T 12: 38,831,832 (GRCm39) T27I probably benign Het
Fam227b T A 2: 125,965,908 (GRCm39) probably null Het
Flcn T C 11: 59,694,583 (GRCm39) S130G probably damaging Het
Flvcr2 T C 12: 85,849,902 (GRCm39) probably benign Het
Git1 C A 11: 77,391,902 (GRCm39) H241Q probably damaging Het
Gm14496 T A 2: 181,642,256 (GRCm39) H642Q probably benign Het
Idh1 C T 1: 65,201,072 (GRCm39) S293N probably damaging Het
Itpr2 A G 6: 146,214,402 (GRCm39) S1449P probably benign Het
Mmel1 T A 4: 154,968,087 (GRCm39) L141Q probably damaging Het
Morn4 A G 19: 42,064,661 (GRCm39) I109T probably benign Het
Mrgprh T C 17: 13,096,596 (GRCm39) Y279H probably damaging Het
Or1ak2 T A 2: 36,827,310 (GRCm39) Y60N probably damaging Het
Osbpl8 T C 10: 111,117,991 (GRCm39) I578T probably damaging Het
Reg2 A G 6: 78,384,917 (GRCm39) Y153C probably damaging Het
Sall2 T C 14: 52,550,484 (GRCm39) S902G probably benign Het
Sesn3 C T 9: 14,232,504 (GRCm39) T259M probably damaging Het
Traf1 C A 2: 34,839,107 (GRCm39) D73Y possibly damaging Het
Trnt1 G A 6: 106,750,387 (GRCm39) G97D probably benign Het
Ttll11 T C 2: 35,869,422 (GRCm39) H72R probably benign Het
Txndc12 T C 4: 108,715,193 (GRCm39) probably null Het
Zan C A 5: 137,426,676 (GRCm39) S2490I unknown Het
Zfp955a T C 17: 33,462,683 (GRCm39) probably null Het
Zfyve26 A C 12: 79,326,854 (GRCm39) S756R possibly damaging Het
Zmynd8 T C 2: 165,670,238 (GRCm39) N412S possibly 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
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
R3935:Bbof1 UTSW 12 84,457,984 (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
Posted On 2015-12-18