Incidental Mutation 'R2070:Bora'
ID 227083
Institutional Source Beutler Lab
Gene Symbol Bora
Ensembl Gene ENSMUSG00000022070
Gene Name bora, aurora kinase A activator
Synonyms 6720463M24Rik
MMRRC Submission 040075-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R2070 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 99283880-99311976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99299714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 229 (S229P)
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: S229P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: S229P

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: S229P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Ablim2 G A 5: 35,955,857 (GRCm39) C24Y probably damaging Het
Ankle1 T C 8: 71,861,988 (GRCm39) F497S probably damaging Het
Armh3 G T 19: 45,879,724 (GRCm39) P543Q probably damaging Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bmi1 A G 2: 18,688,851 (GRCm39) I207V probably benign Het
Bnip3l A G 14: 67,226,671 (GRCm39) M174T probably damaging Het
Ccdc121 T C 5: 31,644,727 (GRCm39) V160A possibly damaging Het
Ccdc27 T A 4: 154,126,270 (GRCm39) N73I unknown Het
Cdc42bpg T A 19: 6,370,518 (GRCm39) C1204S probably damaging Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cilp T A 9: 65,186,377 (GRCm39) V824D probably damaging Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Cntnap1 A G 11: 101,073,805 (GRCm39) Y652C probably damaging Het
Col12a1 T C 9: 79,554,978 (GRCm39) I2033M probably benign Het
Cwh43 T C 5: 73,578,860 (GRCm39) L289P probably damaging Het
Ddhd1 T C 14: 45,848,081 (GRCm39) D529G probably damaging Het
Defb28 T A 2: 152,362,064 (GRCm39) S75T probably benign Het
Dennd2a A T 6: 39,442,053 (GRCm39) V939D probably damaging Het
Dlg5 T C 14: 24,186,703 (GRCm39) R1866G probably damaging Het
Dsc1 C T 18: 20,221,353 (GRCm39) probably null Het
Ecscr T G 18: 35,848,490 (GRCm39) N184T probably damaging Het
Eif4ebp1 G T 8: 27,763,372 (GRCm39) R55L probably damaging Het
Eml1 G T 12: 108,479,258 (GRCm39) V344L probably damaging Het
Exoc2 G T 13: 30,999,353 (GRCm39) N901K probably benign Het
Fam161b T A 12: 84,403,202 (GRCm39) I143F probably benign Het
Fam180a A G 6: 35,302,846 (GRCm39) S2P probably benign Het
Fat3 T A 9: 15,910,666 (GRCm39) I1779F probably benign Het
Fat4 A G 3: 39,064,804 (GRCm39) K4920R probably benign Het
Fsip2 T A 2: 82,806,699 (GRCm39) V1006E probably damaging Het
Glcci1 A G 6: 8,558,566 (GRCm39) S30G probably damaging Het
Gm5414 A T 15: 101,536,495 (GRCm39) S43R possibly damaging Het
Hao1 T C 2: 134,372,535 (GRCm39) T158A probably damaging Het
Hic1 T C 11: 75,059,885 (GRCm39) H154R possibly damaging Het
Hmgxb3 T C 18: 61,304,431 (GRCm39) Y53C probably damaging Het
Ipmk A T 10: 71,208,579 (GRCm39) K122* probably null Het
Jakmip2 T C 18: 43,696,395 (GRCm39) E518G probably benign Het
Kmt2e A G 5: 23,706,993 (GRCm39) T1519A probably benign Het
Lfng T C 5: 140,598,350 (GRCm39) I224T possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map4k5 C T 12: 69,863,111 (GRCm39) V629I probably damaging Het
Med12l A G 3: 59,152,326 (GRCm39) D1037G probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mptx2 A T 1: 173,102,145 (GRCm39) Y181* probably null Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Myo5a A G 9: 75,089,266 (GRCm39) E1132G probably benign Het
Nedd4l T G 18: 65,345,891 (GRCm39) F814L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Oit3 T G 10: 59,266,835 (GRCm39) I224L probably benign Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pacs2 C T 12: 113,024,731 (GRCm39) T407I probably damaging Het
Pard6g T C 18: 80,160,940 (GRCm39) I351T probably benign Het
Pdcl2 A T 5: 76,472,838 (GRCm39) probably null Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Phip T A 9: 82,757,352 (GRCm39) I1607L probably benign Het
Plekhd1 C A 12: 80,739,681 (GRCm39) S10* probably null Het
Pramel24 T G 4: 143,453,472 (GRCm39) Y193* probably null Het
Prdm1 C T 10: 44,317,408 (GRCm39) D505N possibly damaging Het
Psmd13 T C 7: 140,477,561 (GRCm39) V320A probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rere C A 4: 150,699,047 (GRCm39) probably benign Het
Rint1 T C 5: 24,015,927 (GRCm39) S456P possibly damaging Het
Scn3a T C 2: 65,351,210 (GRCm39) Q446R possibly damaging Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Snrnp200 A G 2: 127,054,323 (GRCm39) E210G possibly damaging Het
Snrnp200 A G 2: 127,079,803 (GRCm39) T1891A probably benign Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Spin1 T C 13: 51,298,573 (GRCm39) probably null Het
St14 T A 9: 31,002,669 (GRCm39) I745F probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tlcd3b T C 7: 126,419,012 (GRCm39) L4P probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Uty T C Y: 1,169,193 (GRCm39) E414G probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Wwc2 T C 8: 48,321,356 (GRCm39) D586G unknown Het
Zfp106 T C 2: 120,354,010 (GRCm39) H1490R probably benign Het
Zswim5 T C 4: 116,837,109 (GRCm39) V731A probably benign Het
Zyg11b G C 4: 108,108,016 (GRCm39) N463K possibly damaging Het
Other mutations in Bora
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Bora APN 14 99,284,813 (GRCm39) missense probably damaging 1.00
IGL02119:Bora APN 14 99,290,974 (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
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
Predicted Primers PCR Primer
(F):5'- TATCTCTGTTGCAAGGTGCC -3'
(R):5'- ACCCTGACTAAGACACTAGTACATTTG -3'

Sequencing Primer
(F):5'- ATCTCTGTTGCAAGGTGCCTTTTG -3'
(R):5'- ACCAAAGCGTTTATTTCCAACTGC -3'
Posted On 2014-09-17