Incidental Mutation 'R7794:Bora'
ID 600143
Institutional Source Beutler Lab
Gene Symbol Bora
Ensembl Gene ENSMUSG00000022070
Gene Name bora, aurora kinase A activator
Synonyms 6720463M24Rik
MMRRC Submission 045850-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R7794 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 99283880-99311976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99310080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 470 (T470A)
Ref Sequence ENSEMBL: ENSMUSP00000022656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022656] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000227744] [ENSMUST00000228643]
AlphaFold Q8BS90
Predicted Effect possibly damaging
Transcript: ENSMUST00000022656
AA Change: T470A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
AA Change: T470A

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,117,022 (GRCm39) M542K possibly damaging Het
Abcc3 T A 11: 94,249,697 (GRCm39) I1083F probably benign Het
Acsm5 A G 7: 119,137,352 (GRCm39) probably benign Het
Acyp1 G T 12: 85,335,053 (GRCm39) A22E probably benign Het
Afdn C A 17: 14,102,695 (GRCm39) A1090E probably damaging Het
Ahdc1 T G 4: 132,791,289 (GRCm39) D843E possibly damaging Het
Bahcc1 G T 11: 120,163,507 (GRCm39) E602* probably null Het
Bzw1 T A 1: 58,439,959 (GRCm39) S166T probably benign Het
Car13 A G 3: 14,719,948 (GRCm39) H120R probably damaging Het
Cstf3 G A 2: 104,420,926 (GRCm39) ⇒1 probably benign Het
Dip2a T C 10: 76,112,459 (GRCm39) N1080D probably damaging Het
Dis3 A G 14: 99,336,233 (GRCm39) L91P probably benign Het
E2f6 A G 12: 16,870,370 (GRCm39) D174G possibly damaging Het
Emsy A T 7: 98,249,931 (GRCm39) S785R probably benign Het
Fbxl17 A G 17: 63,663,806 (GRCm39) I561T probably damaging Het
Gabra6 A T 11: 42,211,868 (GRCm39) probably null Het
Gm47996 C G 1: 151,086,545 (GRCm39) P209A possibly damaging Het
Hcls1 A G 16: 36,782,426 (GRCm39) E365G probably damaging Het
Hoxa6 T A 6: 52,183,548 (GRCm39) T166S possibly damaging Het
Hydin A G 8: 111,235,715 (GRCm39) Y1900C probably damaging Het
I0C0044D17Rik T C 4: 98,708,582 (GRCm39) probably benign Het
Ifitm7 T C 16: 13,801,610 (GRCm39) T50A probably benign Het
Igkv10-95 A G 6: 68,657,811 (GRCm39) Q109R possibly damaging Het
Il1rap A T 16: 26,541,658 (GRCm39) H633L probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Kmt2e G A 5: 23,669,714 (GRCm39) G67D probably damaging Het
Kpna6 T C 4: 129,541,844 (GRCm39) T518A probably benign Het
Marchf11 A G 15: 26,409,284 (GRCm39) I328V probably benign Het
Mbtps1 A G 8: 120,265,623 (GRCm39) I308T probably damaging Het
Mug1 A T 6: 121,833,247 (GRCm39) D284V possibly damaging Het
Myo16 A G 8: 10,619,913 (GRCm39) K1488R unknown Het
Myom2 G A 8: 15,133,259 (GRCm39) G384R probably damaging Het
Naa16 A G 14: 79,614,934 (GRCm39) Y189H probably damaging Het
Nav3 G A 10: 109,524,717 (GRCm39) A2304V probably benign Het
Or12e10 T A 2: 87,640,818 (GRCm39) V218E probably damaging Het
Or14c46 T A 7: 85,918,341 (GRCm39) I219L probably damaging Het
Or14j5 A T 17: 38,161,678 (GRCm39) Q65L probably benign Het
Orc5 A T 5: 22,738,782 (GRCm39) Y160N possibly damaging Het
Pan2 T C 10: 128,152,396 (GRCm39) probably null Het
Pcdhb20 A G 18: 37,637,485 (GRCm39) R4G probably benign Het
Poc1b A G 10: 98,965,460 (GRCm39) S130G possibly damaging Het
Psme2b A G 11: 48,836,683 (GRCm39) V88A probably benign Het
Ptpn13 C T 5: 103,640,090 (GRCm39) T183M probably benign Het
Ptpn4 T C 1: 119,653,767 (GRCm39) E275G probably damaging Het
Rab21 A T 10: 115,134,762 (GRCm39) L119* probably null Het
Rep15 T A 6: 146,934,638 (GRCm39) I159N probably damaging Het
Rps6kc1 T C 1: 190,515,825 (GRCm39) E967G probably benign Het
Rptn G A 3: 93,303,036 (GRCm39) R123K probably benign Het
Scn11a A T 9: 119,594,580 (GRCm39) V1271D probably damaging Het
Scn5a A T 9: 119,358,153 (GRCm39) I696N probably damaging Het
Slc25a12 T C 2: 71,141,852 (GRCm39) E267G probably damaging Het
Slc5a4b A T 10: 75,898,133 (GRCm39) M527K probably benign Het
Spata31e4 C G 13: 50,856,344 (GRCm39) P661A probably damaging Het
Speg T A 1: 75,365,514 (GRCm39) S632T probably benign Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Synrg G T 11: 83,910,400 (GRCm39) M933I probably benign Het
Tmem178b A T 6: 40,222,551 (GRCm39) I89F probably damaging Het
Tyr C T 7: 87,133,028 (GRCm39) probably null Het
Usp30 T A 5: 114,251,033 (GRCm39) C237* probably null Het
Xpo6 G T 7: 125,760,035 (GRCm39) T188K probably damaging Het
Zfp382 G A 7: 29,831,035 (GRCm39) S108N possibly damaging Het
Zfp820 A C 17: 22,039,109 (GRCm39) V73G probably 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
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
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'- TGCGGGAAATGTTTCGTAAAG -3'
(R):5'- ACCTGACACGTCGTTTAGGG -3'

Sequencing Primer
(F):5'- TCGTAAAGTATTAAAGTGAACAGCC -3'
(R):5'- ACCTGACACGTCGTTTAGGGTTTAG -3'
Posted On 2019-11-26