Incidental Mutation 'R1140:Aurka'
ID102017
Institutional Source Beutler Lab
Gene Symbol Aurka
Ensembl Gene ENSMUSG00000027496
Gene Nameaurora kinase A
SynonymsIAK, IAK1, Aurora-A, aurora A, Ark1, Ayk1, AIRK1, Stk6
MMRRC Submission 039213-MU
Accession Numbers

Ncbi RefSeq: NM_011497.3; MGI:894678

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1140 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location172356190-172370535 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172357229 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 285 (D285G)
Ref Sequence ENSEMBL: ENSMUSP00000104768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028995] [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109140]
Predicted Effect probably benign
Transcript: ENSMUST00000028995
SMART Domains Protein: ENSMUSP00000028995
Gene: ENSMUSG00000027495

DomainStartEndE-ValueType
Pfam:DUF1279 85 172 4e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000028997
AA Change: D307G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496
AA Change: D307G

DomainStartEndE-ValueType
S_TKc 146 396 2.25e-99 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109139
AA Change: D285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496
AA Change: D285G

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109140
AA Change: D285G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496
AA Change: D285G

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128004
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype Strain: 3836423; 3826513
Lethality: E1-E4
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,150,135 S161T probably damaging Het
Ahnak T A 19: 9,004,245 D964E probably damaging Het
Aldh18a1 T C 19: 40,574,285 I215V probably benign Het
Arfgef3 T A 10: 18,597,348 I1656F possibly damaging Het
Cep83 A G 10: 94,737,890 K214E probably damaging Het
Dis3l2 A T 1: 86,821,438 T209S probably benign Het
Dock7 A G 4: 99,065,406 M363T possibly damaging Het
Dsc2 C A 18: 20,032,212 K901N probably damaging Het
Fam234b A T 6: 135,225,758 H370L probably benign Het
Fanca A C 8: 123,313,129 probably null Het
Fastkd5 C T 2: 130,616,215 V152I probably benign Het
Fndc1 T C 17: 7,775,426 R337G unknown Het
Fsip2 T A 2: 82,975,034 Y566N probably damaging Het
Gsc A T 12: 104,473,102 M5K probably damaging Het
Muc5b A G 7: 141,858,996 E1893G unknown Het
Myh7 T C 14: 54,972,882 T1789A probably damaging Het
Npr2 A G 4: 43,648,353 T884A possibly damaging Het
Olfr389 T A 11: 73,776,854 M158L probably benign Het
Parg T C 14: 32,296,243 S432P probably benign Het
Ptdss1 T C 13: 66,963,356 V162A probably benign Het
Samsn1 C T 16: 75,888,742 E43K possibly damaging Het
Sis C T 3: 72,951,616 V361I probably damaging Het
Speg A T 1: 75,429,095 N2981I probably damaging Het
Stk32c C T 7: 139,125,179 R23Q probably damaging Het
Taok3 T C 5: 117,228,053 S231P possibly damaging Het
Tbc1d2b A G 9: 90,226,376 V374A possibly damaging Het
Xxylt1 T A 16: 31,007,848 probably null Het
Other mutations in Aurka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Aurka APN 2 172368979 unclassified probably benign
IGL02338:Aurka APN 2 172359858 missense probably benign 0.00
IGL02894:Aurka APN 2 172366948 unclassified probably null
IGL03188:Aurka APN 2 172363768 missense possibly damaging 0.60
PIT4585001:Aurka UTSW 2 172357197 missense probably benign 0.01
R0006:Aurka UTSW 2 172359753 critical splice donor site probably null
R0006:Aurka UTSW 2 172359753 critical splice donor site probably null
R0458:Aurka UTSW 2 172370446 nonsense probably null
R0555:Aurka UTSW 2 172367147 missense probably benign 0.07
R1130:Aurka UTSW 2 172357258 splice site probably null
R2507:Aurka UTSW 2 172370445 missense probably benign 0.00
R2887:Aurka UTSW 2 172367120 missense probably benign 0.01
R2889:Aurka UTSW 2 172367120 missense probably benign 0.01
R3772:Aurka UTSW 2 172366960 missense probably benign
R4929:Aurka UTSW 2 172370406 missense probably benign 0.05
R5409:Aurka UTSW 2 172367116 missense possibly damaging 0.78
R6158:Aurka UTSW 2 172363596 critical splice donor site probably null
R6689:Aurka UTSW 2 172370393 critical splice donor site probably null
R6828:Aurka UTSW 2 172357252 missense probably damaging 1.00
R7912:Aurka UTSW 2 172369029 missense probably benign 0.00
R7993:Aurka UTSW 2 172369029 missense probably benign 0.00
R8066:Aurka UTSW 2 172370418 missense probably benign 0.00
Predicted Primers
Posted On2014-01-15