Incidental Mutation 'IGL02572:Bbof1'
ID299052
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: 0.120) question?
Stock #IGL02572
Quality Score
Status
Chromosome12
Chromosomal Location84409071-84442887 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84428365 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 443 (D443N)
Ref Sequence ENSEMBL: ENSMUSP00000080512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000085192] [ENSMUST00000151789] [ENSMUST00000153540]
Predicted Effect probably damaging
Transcript: ENSMUST00000081828
AA Change: D443N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: D443N

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
AA Change: D129N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: D129N

DomainStartEndE-ValueType
Pfam:DUF4515 1 138 6.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153540
AA Change: G107E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
AA Change: G107E

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Tnpo1 A T 13: 98,849,159 I829N probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Bbof1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01509:Bbof1 APN 12 84411085 missense possibly damaging 0.92
IGL02933:Bbof1 APN 12 84426966 missense probably damaging 1.00
IGL03099:Bbof1 APN 12 84426765 nonsense probably null
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
X0019:Bbof1 UTSW 12 84426793 missense probably benign 0.01
Posted On2015-04-16