Incidental Mutation 'IGL02119:Bora'
ID280528
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: 0.927) question?
Stock #IGL02119
Quality Score
Status
Chromosome14
Chromosomal Location99046222-99074540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99053538 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000154660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000227128] [ENSMUST00000227744]
Predicted Effect probably damaging
Transcript: ENSMUST00000022656
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: D94G

DomainStartEndE-ValueType
Pfam:BORA_N 7 207 2.4e-69 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227128
Predicted Effect probably damaging
Transcript: ENSMUST00000227744
AA Change: D94G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,328,000 probably null Het
Acsbg2 T C 17: 56,868,459 probably benign Het
Ap3b1 T C 13: 94,462,403 V495A probably benign Het
Astn1 T C 1: 158,511,154 probably benign Het
Bpifb9b G T 2: 154,313,624 V348L possibly damaging Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cyp2d11 A C 15: 82,390,064 I372S probably damaging Het
Dennd2c T A 3: 103,137,243 V380D probably damaging Het
Fat4 C T 3: 38,982,939 A3580V probably benign Het
Filip1 A G 9: 79,818,266 S1024P probably benign Het
Flnc G A 6: 29,447,512 E1105K probably damaging Het
Gbp4 T A 5: 105,121,042 E415V probably benign Het
Gdap1l1 T A 2: 163,453,668 F224Y probably damaging Het
Gm11146 A T 16: 77,588,610 probably null Het
Gsn G T 2: 35,302,495 R485L probably damaging Het
Havcr1 A G 11: 46,775,493 Y261C probably damaging Het
Maneal A T 4: 124,859,167 I229N probably benign Het
Med24 A T 11: 98,728,835 M27K probably benign Het
Nipsnap2 T A 5: 129,747,992 probably benign Het
Noa1 T A 5: 77,307,579 Q430L probably benign Het
Olfr1099 T C 2: 86,959,183 I92V probably benign Het
Olfr365 C A 2: 37,201,269 S9R possibly damaging Het
Olfr74 T A 2: 87,974,410 N85I probably benign Het
Olfr834 T C 9: 18,988,612 V208A probably benign Het
Pde3a T A 6: 141,459,803 S460R probably damaging Het
Pdzd8 T C 19: 59,300,490 Q826R possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pikfyve T A 1: 65,272,571 I1989N probably damaging Het
Poldip2 T A 11: 78,517,908 F200I probably damaging Het
Prodh2 T C 7: 30,506,504 V208A probably damaging Het
Ranbp10 T C 8: 105,827,003 D89G probably damaging Het
Rbm33 T A 5: 28,339,017 S90R probably damaging Het
Slc44a4 A C 17: 34,928,661 D441A probably damaging Het
Slc4a10 A T 2: 62,228,670 I174F probably damaging Het
Smim17 T C 7: 6,427,161 probably benign Het
Tln1 T C 4: 43,546,760 E872G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Top2b T C 14: 16,406,733 L625S probably damaging Het
Vmn2r59 A G 7: 42,046,169 V273A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Whrn T G 4: 63,435,487 K348Q probably damaging Het
Zc3h14 T C 12: 98,763,895 V399A probably benign Het
Other mutations in Bora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Bora APN 14 99047377 missense probably damaging 1.00
IGL02129:Bora APN 14 99056821 critical splice donor site probably null
IGL02171:Bora APN 14 99047322 missense probably damaging 1.00
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
R8299:Bora UTSW 14 99068134 missense probably benign 0.35
Posted On2015-04-16