Incidental Mutation 'IGL02171:Bora'
ID283561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bora
Ensembl Gene ENSMUSG00000022070
Gene Namebora, aurora kinase A activator
Synonyms6720463M24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #IGL02171
Quality Score
Status
Chromosome14
Chromosomal Location99046222-99074540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 99047322 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 3 (D3Y)
Ref Sequence ENSEMBL: ENSMUSP00000154660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042662] [ENSMUST00000227128] [ENSMUST00000227744] [ENSMUST00000227948]
Predicted Effect probably damaging
Transcript: ENSMUST00000022656
AA Change: D3Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: D3Y

DomainStartEndE-ValueType
Pfam:BORA_N 7 207 2.4e-69 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042662
SMART Domains Protein: ENSMUSP00000037557
Gene: ENSMUSG00000033186

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:MOZART1 19 65 4.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226823
Predicted Effect probably damaging
Transcript: ENSMUST00000227128
AA Change: D3Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227197
Predicted Effect probably damaging
Transcript: ENSMUST00000227744
AA Change: D3Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228445
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,944,256 I772M probably benign Het
Abcg4 C A 9: 44,275,009 probably benign Het
Abo A G 2: 26,848,957 I18T probably benign Het
AI661453 C T 17: 47,466,996 probably benign Het
Apbb1 A G 7: 105,559,126 probably benign Het
Atp8a1 G A 5: 67,738,465 S557L probably damaging Het
Cfap46 T C 7: 139,667,056 D323G possibly damaging Het
Dcdc2a T A 13: 25,056,434 V55E probably damaging Het
Dync1i1 G T 6: 5,969,498 R441L probably damaging Het
Ecd T A 14: 20,320,827 Y608F probably damaging Het
Eif4g3 A G 4: 138,126,589 T489A probably benign Het
Erlin1 A G 19: 44,049,116 probably benign Het
Fras1 A G 5: 96,735,181 E2524G probably benign Het
Garem1 C T 18: 21,129,241 D839N probably damaging Het
Gdap1l1 T A 2: 163,447,550 V145E possibly damaging Het
Gm1966 G T 7: 106,601,341 noncoding transcript Het
Hydin A T 8: 110,451,958 K1062* probably null Het
Igkv4-92 T C 6: 68,755,589 D2G probably benign Het
Lemd3 T A 10: 120,933,622 probably benign Het
Mbl1 C T 14: 41,154,498 probably benign Het
Mdh1 T C 11: 21,557,438 probably benign Het
Mms19 A G 19: 41,957,139 probably null Het
Nrxn3 C A 12: 89,193,163 P20T probably damaging Het
Nudt1 A G 5: 140,337,593 E100G probably damaging Het
Olfr1006 T A 2: 85,674,941 D70V probably damaging Het
Olfr1391 T A 11: 49,328,035 F208Y possibly damaging Het
Palb2 A C 7: 122,107,586 S1083A probably damaging Het
Phc2 T G 4: 128,711,065 F198C probably damaging Het
Pkhd1l1 A G 15: 44,516,146 D1056G possibly damaging Het
Psg17 A G 7: 18,818,787 Y188H probably damaging Het
Scn1a T A 2: 66,273,199 I1906F probably damaging Het
Sidt2 C A 9: 45,952,770 R150L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Supt3 T C 17: 45,003,156 I144T probably damaging Het
Trip4 A G 9: 65,881,050 S38P probably damaging Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdr72 A T 9: 74,210,534 M843L possibly damaging Het
Zfp595 T A 13: 67,316,655 N518Y possibly damaging Het
Other mutations in Bora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Bora APN 14 99047377 missense probably damaging 1.00
IGL02119:Bora APN 14 99053538 missense probably damaging 1.00
IGL02129:Bora APN 14 99056821 critical splice donor site probably null
IGL03338:Bora APN 14 99072742 missense probably damaging 1.00
R0504:Bora UTSW 14 99061623 nonsense probably null
R1598:Bora UTSW 14 99068404 missense probably benign
R2070:Bora UTSW 14 99062278 missense probably damaging 1.00
R2071:Bora UTSW 14 99062278 missense probably damaging 1.00
R4521:Bora UTSW 14 99068548 missense probably damaging 0.99
R4861:Bora UTSW 14 99047474 splice site probably null
R4881:Bora UTSW 14 99061567 missense probably damaging 1.00
R4982:Bora UTSW 14 99047352 missense probably damaging 1.00
R5341:Bora UTSW 14 99068094 missense probably damaging 1.00
R5378:Bora UTSW 14 99068493 missense probably damaging 1.00
R5913:Bora UTSW 14 99068512 missense probably benign 0.02
R6082:Bora UTSW 14 99062294 missense possibly damaging 0.88
R6083:Bora UTSW 14 99062294 missense possibly damaging 0.88
R6084:Bora UTSW 14 99062294 missense possibly damaging 0.88
R6085:Bora UTSW 14 99062294 missense possibly damaging 0.88
R6086:Bora UTSW 14 99062294 missense possibly damaging 0.88
R6269:Bora UTSW 14 99073667 missense probably damaging 0.99
R7354:Bora UTSW 14 99047358 missense probably damaging 1.00
R7794:Bora UTSW 14 99072644 missense possibly damaging 0.50
R7962:Bora UTSW 14 99072726 missense probably benign 0.01
R8299:Bora UTSW 14 99068134 missense probably benign 0.35
Posted On2015-04-16