Incidental Mutation 'IGL03338:Bora'
ID417090
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: 0.935) question?
Stock #IGL03338
Quality Score
Status
Chromosome14
Chromosomal Location99046222-99074540 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 99072742 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 502 (N502K)
Ref Sequence ENSEMBL: ENSMUSP00000022656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000227744] [ENSMUST00000228643]
Predicted Effect probably damaging
Transcript: ENSMUST00000022656
AA Change: N502K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: N502K

DomainStartEndE-ValueType
Pfam:BORA_N 7 207 2.4e-69 PFAM
low complexity region 392 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042471
SMART Domains Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
PINc 64 182 2.8e-24 SMART
low complexity region 425 436 N/A INTRINSIC
RNB 467 797 5.56e-141 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227022
Predicted Effect probably benign
Transcript: ENSMUST00000227744
Predicted Effect probably benign
Transcript: ENSMUST00000228643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228756
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,694,153 V260M probably damaging Het
Accsl T A 2: 93,855,747 H575L probably benign Het
Armc3 A T 2: 19,248,701 I218F possibly damaging Het
Brd4 T A 17: 32,213,072 D606V probably damaging Het
Ccdc190 T A 1: 169,929,975 M1K probably null Het
Ccl25 T C 8: 4,349,898 probably benign Het
Cep78 G T 19: 15,959,623 T573K probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 C T 6: 106,655,589 H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 E101G probably benign Het
Dnah2 A G 11: 69,496,577 V941A probably benign Het
Exoc6b A G 6: 84,844,130 I559T probably damaging Het
Fmr1 T C X: 68,688,336 probably null Het
Ghr A T 15: 3,347,542 C66S probably damaging Het
Gm13078 T C 4: 143,726,742 I140T probably benign Het
Gm13101 T C 4: 143,965,841 I197V probably benign Het
Gm13101 T A 4: 143,966,038 Q131L probably benign Het
Hook1 C A 4: 95,998,692 probably benign Het
Igsf1 T C X: 49,787,499 T73A probably benign Het
Ipo8 T C 6: 148,800,257 K451R probably benign Het
Irs1 A G 1: 82,288,401 V698A probably benign Het
Kat2a T C 11: 100,711,475 D151G probably benign Het
Lyrm1 A T 7: 119,914,246 Q78L probably benign Het
Madd C T 2: 91,162,162 G1012E possibly damaging Het
Mboat1 T A 13: 30,136,759 D31E probably benign Het
Myh8 C A 11: 67,298,346 A1116D probably damaging Het
Nop2 G A 6: 125,139,732 probably null Het
Notch1 A G 2: 26,459,959 S2390P probably benign Het
Olfr1122 T G 2: 87,388,126 N140K probably benign Het
Olfr619 T A 7: 103,604,408 C251* probably null Het
Olfr792 A G 10: 129,541,056 D173G probably damaging Het
Pigg T C 5: 108,319,950 S272P probably damaging Het
Plg A G 17: 12,419,072 Y795C probably damaging Het
Polr3e A G 7: 120,937,620 K335R probably benign Het
Pramef12 T A 4: 144,394,827 Y209F probably benign Het
Prdm4 A T 10: 85,907,821 M190K possibly damaging Het
Prex2 T A 1: 11,140,265 F597L probably benign Het
Ranbp3l A G 15: 9,060,859 E403G probably damaging Het
Rgmb C T 17: 15,807,303 A385T possibly damaging Het
Scn4a T A 11: 106,320,845 I1449F probably damaging Het
Slc17a9 T C 2: 180,740,518 probably benign Het
Slc26a2 T C 18: 61,198,902 I486V probably damaging Het
Sntn A T 14: 13,678,991 D55V probably damaging Het
Snx25 T A 8: 46,045,210 R595S probably benign Het
Spag11b C T 8: 19,141,410 T33I probably damaging Het
Sval2 A G 6: 41,864,247 I81M probably damaging Het
Tab2 A G 10: 7,919,275 V481A probably damaging Het
Zfp867 G A 11: 59,464,177 Q109* probably null Het
Zfp935 T C 13: 62,454,433 T318A probably benign 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
IGL02171:Bora APN 14 99047322 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 On2016-08-02