Incidental Mutation 'IGL00896:Aurkc'
ID27753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aurkc
Ensembl Gene ENSMUSG00000070837
Gene Nameaurora kinase C
SynonymsIAK3, AIK3, Stk13, AIE1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00896
Quality Score
Status
Chromosome7
Chromosomal Location6995300-7003091 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7002514 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
Ref Sequence ENSEMBL: ENSMUSP00000083426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086248] [ENSMUST00000207660] [ENSMUST00000207711] [ENSMUST00000208049] [ENSMUST00000208518]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086248
AA Change: Y260H

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000083426
Gene: ENSMUSG00000070837
AA Change: Y260H

DomainStartEndE-ValueType
S_TKc 55 305 1.39e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207660
AA Change: Y129H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207711
AA Change: Y221H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208049
AA Change: Y221H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000208518
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele are viable but subfertile, as shown by reduced litter sizes or failure to produce a litter. Observed sperm abnormalities include heterogeneous chromatin condensation, loose acrosomes, and blunted heads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,039,462 T4352A probably benign Het
Adam6a A G 12: 113,545,410 T468A possibly damaging Het
Ankrd35 A G 3: 96,684,276 E626G probably damaging Het
Arhgef4 A G 1: 34,811,696 Y1812C possibly damaging Het
Cpb1 A G 3: 20,252,029 V329A probably benign Het
Cyp2d11 G T 15: 82,391,074 probably benign Het
Dnase1 G A 16: 4,039,212 S28N probably benign Het
Evpl C A 11: 116,222,584 E1427* probably null Het
Gimap6 T C 6: 48,702,460 N214S probably benign Het
Htr1f A T 16: 64,926,106 H274Q probably benign Het
Ipo9 A T 1: 135,400,059 V538E probably damaging Het
Lmf2 T C 15: 89,353,336 K308E probably benign Het
Mog T A 17: 37,017,485 probably null Het
Myo19 T C 11: 84,909,498 V903A probably benign Het
Myt1l A G 12: 29,826,886 T179A unknown Het
Nckap1 C T 2: 80,580,953 V5M possibly damaging Het
Olfr382 T C 11: 73,516,341 N286S probably damaging Het
Olfr459 A T 6: 41,772,113 L62Q probably damaging Het
Olfr630 T C 7: 103,755,006 D193G probably damaging Het
Pcdhb5 T G 18: 37,322,785 probably null Het
Pcm1 C A 8: 41,276,123 Q711K possibly damaging Het
Pde6a A G 18: 61,220,792 D63G possibly damaging Het
Piezo1 T C 8: 122,497,870 M711V possibly damaging Het
Prrxl1 C T 14: 32,605,214 probably benign Het
Rev1 G A 1: 38,098,940 T88I probably damaging Het
Sntg1 A T 1: 8,595,410 probably null Het
Sult2a1 T A 7: 13,832,640 T137S probably benign Het
Txndc15 G A 13: 55,725,675 A283T probably damaging Het
Zswim8 A G 14: 20,716,001 E785G probably damaging Het
Other mutations in Aurkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Aurkc APN 7 6996548 missense probably damaging 1.00
R0282:Aurkc UTSW 7 7002428 splice site probably null
R0615:Aurkc UTSW 7 7002403 missense possibly damaging 0.82
R3498:Aurkc UTSW 7 7000030 missense probably damaging 1.00
R3607:Aurkc UTSW 7 7002860 missense probably damaging 1.00
R4682:Aurkc UTSW 7 6995539 missense probably null 0.00
R5739:Aurkc UTSW 7 7002860 missense probably benign 0.01
R7592:Aurkc UTSW 7 7000007 missense probably benign 0.01
R8483:Aurkc UTSW 7 6996665 nonsense probably null
X0025:Aurkc UTSW 7 6995528 splice site probably null
Z1176:Aurkc UTSW 7 6995514 frame shift probably null
Posted On2013-04-17