Incidental Mutation 'IGL03099:Bbof1'
ID418663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbof1
Ensembl Gene ENSMUSG00000057265
Gene Namebasal body orientation factor 1
Synonyms2900006K08Rik, Ccdc176
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03099
Quality Score
Status
Chromosome12
Chromosomal Location84409071-84442887 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 84426765 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 290 (Q290*)
Ref Sequence ENSEMBL: ENSMUSP00000080512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000151789] [ENSMUST00000153540]
Predicted Effect probably null
Transcript: ENSMUST00000081828
AA Change: Q290*
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: Q290*

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C A 1: 87,127,606 F458L probably benign Het
Alpi A G 1: 87,098,631 L546P unknown Het
Arpc5l A G 2: 39,013,832 Y111C probably damaging Het
Atp11a T C 8: 12,827,462 F296S possibly damaging Het
Brinp3 A T 1: 146,902,097 T761S possibly damaging Het
Cyp2j6 A T 4: 96,536,091 M143K possibly damaging Het
Daw1 T C 1: 83,179,367 probably null Het
Dst A G 1: 34,275,781 N6498D probably damaging Het
Fbxo15 T C 18: 84,981,213 L380P possibly damaging Het
Glce A T 9: 62,060,062 F602L probably benign Het
Gpatch1 A G 7: 35,297,523 S417P possibly damaging Het
Hjurp T C 1: 88,266,289 K223R probably benign Het
Hnrnpm C T 17: 33,669,172 C113Y probably damaging Het
Igkv4-71 T C 6: 69,243,415 M11V probably benign Het
Insr G T 8: 3,258,715 T107K probably damaging Het
Mdm4 G A 1: 132,992,209 T306M probably damaging Het
Nek11 T C 9: 105,287,653 I425V probably benign Het
Otop3 T A 11: 115,339,582 V95E probably damaging Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Snx10 T A 6: 51,579,860 M41K possibly damaging Het
Sos2 T A 12: 69,616,359 N588Y probably damaging Het
Srrm3 C A 5: 135,869,298 probably benign Het
Tbc1d19 G T 5: 53,883,655 probably benign Het
Vmn2r68 T A 7: 85,222,240 K612* probably null Het
Other mutations in Bbof1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01509:Bbof1 APN 12 84411085 missense possibly damaging 0.92
IGL02572:Bbof1 APN 12 84428365 missense probably damaging 1.00
IGL02933:Bbof1 APN 12 84426966 missense probably damaging 1.00
P4717OSA:Bbof1 UTSW 12 84426960 missense probably damaging 1.00
R0100:Bbof1 UTSW 12 84411055 missense probably benign 0.00
R0100:Bbof1 UTSW 12 84411055 missense probably benign 0.00
R0230:Bbof1 UTSW 12 84425204 missense probably damaging 1.00
R0511:Bbof1 UTSW 12 84430271 missense probably benign 0.02
R1506:Bbof1 UTSW 12 84423499 missense probably damaging 0.97
R1920:Bbof1 UTSW 12 84411085 missense possibly damaging 0.92
R2097:Bbof1 UTSW 12 84413307 missense probably damaging 1.00
R2355:Bbof1 UTSW 12 84423449 missense probably damaging 1.00
R3935:Bbof1 UTSW 12 84411210 missense probably damaging 1.00
R4210:Bbof1 UTSW 12 84409183 start codon destroyed probably null
R4321:Bbof1 UTSW 12 84427128 nonsense probably null
R5001:Bbof1 UTSW 12 84426856 missense possibly damaging 0.80
R5033:Bbof1 UTSW 12 84411270 splice site probably null
R5244:Bbof1 UTSW 12 84430073 missense possibly damaging 0.56
R6169:Bbof1 UTSW 12 84426814 missense probably benign 0.02
R6295:Bbof1 UTSW 12 84411168 missense possibly damaging 0.58
R7073:Bbof1 UTSW 12 84426835 missense probably damaging 1.00
R7895:Bbof1 UTSW 12 84419989 missense probably damaging 0.98
R7978:Bbof1 UTSW 12 84419989 missense probably damaging 0.98
R8050:Bbof1 UTSW 12 84411217 missense probably benign 0.01
X0019:Bbof1 UTSW 12 84426793 missense probably benign 0.01
Posted On2016-08-02