Incidental Mutation 'IGL02119:Bora'
ID 280528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bora
Ensembl Gene ENSMUSG00000022070
Gene Name bora, aurora kinase A activator
Synonyms 6720463M24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # IGL02119
Quality Score
Status
Chromosome 14
Chromosomal Location 99283880-99311976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99290974 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BS90
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: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Astn1 T C 1: 158,338,724 (GRCm39) probably benign Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or1l4 C A 2: 37,091,281 (GRCm39) S9R possibly damaging Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Poldip2 T A 11: 78,408,734 (GRCm39) F200I probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Ranbp10 T C 8: 106,553,635 (GRCm39) D89G probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A probably benign Het
Other mutations in Bora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Bora APN 14 99,284,813 (GRCm39) missense probably damaging 1.00
IGL02129:Bora APN 14 99,294,257 (GRCm39) critical splice donor site probably null
IGL02171:Bora APN 14 99,284,758 (GRCm39) missense probably damaging 1.00
IGL03338:Bora APN 14 99,310,178 (GRCm39) missense probably damaging 1.00
R0504:Bora UTSW 14 99,299,059 (GRCm39) nonsense probably null
R1598:Bora UTSW 14 99,305,840 (GRCm39) missense probably benign
R2070:Bora UTSW 14 99,299,714 (GRCm39) missense probably damaging 1.00
R2071:Bora UTSW 14 99,299,714 (GRCm39) missense probably damaging 1.00
R4521:Bora UTSW 14 99,305,984 (GRCm39) missense probably damaging 0.99
R4861:Bora UTSW 14 99,284,910 (GRCm39) splice site probably null
R4881:Bora UTSW 14 99,299,003 (GRCm39) missense probably damaging 1.00
R4982:Bora UTSW 14 99,284,788 (GRCm39) missense probably damaging 1.00
R5341:Bora UTSW 14 99,305,530 (GRCm39) missense probably damaging 1.00
R5378:Bora UTSW 14 99,305,929 (GRCm39) missense probably damaging 1.00
R5913:Bora UTSW 14 99,305,948 (GRCm39) missense probably benign 0.02
R6082:Bora UTSW 14 99,299,730 (GRCm39) missense possibly damaging 0.88
R6083:Bora UTSW 14 99,299,730 (GRCm39) missense possibly damaging 0.88
R6084:Bora UTSW 14 99,299,730 (GRCm39) missense possibly damaging 0.88
R6085:Bora UTSW 14 99,299,730 (GRCm39) missense possibly damaging 0.88
R6086:Bora UTSW 14 99,299,730 (GRCm39) missense possibly damaging 0.88
R6269:Bora UTSW 14 99,311,103 (GRCm39) missense probably damaging 0.99
R7354:Bora UTSW 14 99,284,794 (GRCm39) missense probably damaging 1.00
R7794:Bora UTSW 14 99,310,080 (GRCm39) missense possibly damaging 0.50
R7962:Bora UTSW 14 99,310,162 (GRCm39) missense probably benign 0.01
R8299:Bora UTSW 14 99,305,570 (GRCm39) missense probably benign 0.35
Posted On 2015-04-16