Incidental Mutation 'PIT4585001:Aurka'
ID 556588
Institutional Source Beutler Lab
Gene Symbol Aurka
Ensembl Gene ENSMUSG00000027496
Gene Name aurora kinase A
Synonyms Stk6, IAK1, IAK, AIRK1, Aurora-A, Ark1, Ayk1, aurora A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4585001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 172198110-172212455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172199117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 318 (M318V)
Ref Sequence ENSEMBL: ENSMUSP00000028997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028995] [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109140]
AlphaFold P97477
PDB Structure Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)-ethyl]- thiazol-2-yl}-3-(3-trifluoromethyl-phenyl)-urea [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-(3-chloro-phenyl)-3-{5-[2-(thieno[3,2-d]pyrimidin-4-ylamino)- ethyl]-thiazol-2-yl}-urea [SNS-314] [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with 1-{5-[2-(1-methyl-1H-pyrazolo[4,3-d]pyrimidin-7-ylamino)-ethyl]-thiazol-2-yl}-3-(3-trifluoromethyl-phenyl)-urea [X-RAY DIFFRACTION]
Crystal structure of mouse Aurora A (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with [7-(2-{2-[3-(3-chloro-phenyl)-ureido]-thiazol-5-yl}-ethylamino)-pyrazolo[4,3-d]pyrimidin-1-yl]-acetic acid [X-RAY DIFFRACTION]
Crystal structure of Aurora A complexed with an inhibitor discovered through site-directed dynamic tethering [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 290. [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 823. [X-RAY DIFFRACTION]
Crystal structure of the mouse Aurora-A catalytic domain (Asn186->Gly, Lys240->Arg, Met302->Leu) in complex with Compound 130. [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028995
SMART Domains Protein: ENSMUSP00000028995
Gene: ENSMUSG00000027495

DomainStartEndE-ValueType
Pfam:DUF1279 85 172 4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028997
AA Change: M318V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496
AA Change: M318V

DomainStartEndE-ValueType
S_TKc 146 396 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109139
AA Change: M296V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496
AA Change: M296V

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109140
AA Change: M296V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496
AA Change: M296V

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.2%
  • 10x: 86.5%
  • 20x: 76.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before implantation, early embryonic growth arrest, and impaired mitosis. Heterozygous null mice display increased incidence of tumors primarily lymphomas and chromosomal instability. [provided by MGI curators]
Allele List at MGI

All alleles(25) : Targeted(4) Gene trapped(21)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 T A 5: 16,531,342 (GRCm39) D560E probably damaging Het
Ccdc148 T A 2: 58,872,988 (GRCm39) T202S probably benign Het
Cdc42bpb T C 12: 111,271,412 (GRCm39) D1149G probably damaging Het
Clasp1 T A 1: 118,390,285 (GRCm39) N156K probably damaging Het
Cox18 G A 5: 90,365,434 (GRCm39) T255I possibly damaging Het
Cse1l A G 2: 166,783,394 (GRCm39) T783A probably damaging Het
Dnajc16 T C 4: 141,491,996 (GRCm39) Y609C probably damaging Het
Doc2g A G 19: 4,056,630 (GRCm39) T339A probably benign Het
Eif5a T C 11: 69,808,896 (GRCm39) probably benign Het
Epha3 A G 16: 63,386,940 (GRCm39) probably null Het
Esco1 A T 18: 10,594,355 (GRCm39) C310* probably null Het
Fam222a A G 5: 114,749,101 (GRCm39) Y99C probably damaging Het
Fzd2 T C 11: 102,496,573 (GRCm39) L339P probably damaging Het
Gfral A T 9: 76,104,576 (GRCm39) N145K probably damaging Het
Gga1 T A 15: 78,777,990 (GRCm39) N618K probably benign Het
Gpatch3 T A 4: 133,310,397 (GRCm39) H447Q probably damaging Het
Gpn1 A T 5: 31,666,747 (GRCm39) R346* probably null Het
Gsg1 T C 6: 135,214,558 (GRCm39) E317G probably benign Het
Gsk3b A G 16: 38,004,816 (GRCm39) N129S probably damaging Het
Hmg20b G T 10: 81,184,789 (GRCm39) D94E possibly damaging Het
Kash5 C T 7: 44,849,695 (GRCm39) G76D probably benign Het
Klhdc9 T A 1: 171,187,386 (GRCm39) H204L possibly damaging Het
Klhl24 A G 16: 19,925,638 (GRCm39) I55M probably benign Het
Kmt2c T C 5: 25,520,104 (GRCm39) D2002G probably benign Het
Lama4 A G 10: 38,950,742 (GRCm39) N1015S probably damaging Het
Lpp T C 16: 24,580,697 (GRCm39) C263R probably benign Het
Lrp1b T C 2: 41,159,216 (GRCm39) I1689V Het
Mipep C A 14: 61,022,284 (GRCm39) Q50K probably benign Het
Mx1 T C 16: 97,257,454 (GRCm39) D101G probably benign Het
Nabp2 C G 10: 128,244,676 (GRCm39) E37Q possibly damaging Het
Nme6 A G 9: 109,671,104 (GRCm39) I115V possibly damaging Het
Nup93 A T 8: 94,970,355 (GRCm39) T85S probably benign Het
Oit3 T A 10: 59,266,835 (GRCm39) I224F possibly damaging Het
Parp14 T C 16: 35,678,975 (GRCm39) K331R probably benign Het
Pls1 T A 9: 95,643,443 (GRCm39) T519S probably benign Het
Rcn3 A G 7: 44,736,118 (GRCm39) F197L probably benign Het
Rnf213 C T 11: 119,349,218 (GRCm39) T3773I Het
Rprd1b A T 2: 157,889,877 (GRCm39) I153L probably benign Het
Scel A G 14: 103,829,804 (GRCm39) D462G possibly damaging Het
Sh3bp1 C T 15: 78,794,276 (GRCm39) S548L possibly damaging Het
Sim1 T A 10: 50,860,284 (GRCm39) Y715* probably null Het
Slc18a2 A T 19: 59,282,293 (GRCm39) Q500L possibly damaging Het
Slc5a8 T G 10: 88,722,365 (GRCm39) M66R probably damaging Het
Slco1a6 T C 6: 142,055,246 (GRCm39) T233A probably damaging Het
Smu1 T C 4: 40,739,623 (GRCm39) T396A probably benign Het
Tas2r104 T C 6: 131,662,521 (GRCm39) T63A possibly damaging Het
Tasor2 G A 13: 3,624,979 (GRCm39) A1657V possibly damaging Het
Top2a C T 11: 98,892,199 (GRCm39) A1088T probably benign Het
Ucp1 T C 8: 84,020,577 (GRCm39) F129S probably damaging Het
Unc13b T A 4: 43,091,298 (GRCm39) D41E probably benign Het
Usp10 T G 8: 120,681,631 (GRCm39) V696G probably benign Het
Xylt2 C T 11: 94,557,066 (GRCm39) V745M probably damaging Het
Zbtb49 A T 5: 38,373,820 (GRCm39) N41K probably damaging Het
Zfp109 T A 7: 23,928,779 (GRCm39) D218V probably benign Het
Zfp420 G A 7: 29,575,430 (GRCm39) R550Q probably benign Het
Other mutations in Aurka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Aurka APN 2 172,210,899 (GRCm39) unclassified probably benign
IGL02338:Aurka APN 2 172,201,778 (GRCm39) missense probably benign 0.00
IGL02894:Aurka APN 2 172,208,868 (GRCm39) splice site probably null
IGL03188:Aurka APN 2 172,205,688 (GRCm39) missense possibly damaging 0.60
G1Funyon:Aurka UTSW 2 172,198,850 (GRCm39) missense probably damaging 0.99
R0006:Aurka UTSW 2 172,201,673 (GRCm39) critical splice donor site probably null
R0006:Aurka UTSW 2 172,201,673 (GRCm39) critical splice donor site probably null
R0458:Aurka UTSW 2 172,212,366 (GRCm39) nonsense probably null
R0555:Aurka UTSW 2 172,209,067 (GRCm39) missense probably benign 0.07
R1130:Aurka UTSW 2 172,199,178 (GRCm39) splice site probably null
R1140:Aurka UTSW 2 172,199,149 (GRCm39) missense probably damaging 1.00
R2507:Aurka UTSW 2 172,212,365 (GRCm39) missense probably benign 0.00
R2887:Aurka UTSW 2 172,209,040 (GRCm39) missense probably benign 0.01
R2889:Aurka UTSW 2 172,209,040 (GRCm39) missense probably benign 0.01
R3772:Aurka UTSW 2 172,208,880 (GRCm39) missense probably benign
R4929:Aurka UTSW 2 172,212,326 (GRCm39) missense probably benign 0.05
R5409:Aurka UTSW 2 172,209,036 (GRCm39) missense possibly damaging 0.78
R6158:Aurka UTSW 2 172,205,516 (GRCm39) critical splice donor site probably null
R6689:Aurka UTSW 2 172,212,313 (GRCm39) critical splice donor site probably null
R6828:Aurka UTSW 2 172,199,172 (GRCm39) missense probably damaging 1.00
R7912:Aurka UTSW 2 172,210,949 (GRCm39) missense probably benign 0.00
R8066:Aurka UTSW 2 172,212,338 (GRCm39) missense probably benign 0.00
R8301:Aurka UTSW 2 172,198,850 (GRCm39) missense probably damaging 0.99
R9764:Aurka UTSW 2 172,201,760 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAACACAAGCATGGGTCAGAG -3'
(R):5'- TGAACAGCCGTAGACGTGAG -3'

Sequencing Primer
(F):5'- CATGGGTCAGAGGTGAACATG -3'
(R):5'- AAGTTTGGTGGCTCCATGC -3'
Posted On 2019-06-07