Incidental Mutation 'IGL00896:Aurkc'
ID 27753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aurkc
Ensembl Gene ENSMUSG00000070837
Gene Name aurora kinase C
Synonyms IAK3, AIE1, Stk13, AIK3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00896
Quality Score
Status
Chromosome 7
Chromosomal Location 6998346-7006090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7005513 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O88445
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
Adam6a A G 12: 113,509,030 (GRCm39) T468A possibly damaging Het
Ankrd35 A G 3: 96,591,592 (GRCm39) E626G probably damaging Het
Arhgef4 A G 1: 34,850,777 (GRCm39) Y1812C possibly damaging Het
Bltp1 A G 3: 37,093,611 (GRCm39) T4352A probably benign Het
Cpb1 A G 3: 20,306,193 (GRCm39) V329A probably benign Het
Cyp2d11 G T 15: 82,275,275 (GRCm39) probably benign Het
Dnase1 G A 16: 3,857,076 (GRCm39) S28N probably benign Het
Drgx C T 14: 32,327,171 (GRCm39) probably benign Het
Evpl C A 11: 116,113,410 (GRCm39) E1427* probably null Het
Gimap6 T C 6: 48,679,394 (GRCm39) N214S probably benign Het
Htr1f A T 16: 64,746,469 (GRCm39) H274Q probably benign Het
Ipo9 A T 1: 135,327,797 (GRCm39) V538E probably damaging Het
Lmf2 T C 15: 89,237,539 (GRCm39) K308E probably benign Het
Mog T A 17: 37,328,377 (GRCm39) probably null Het
Myo19 T C 11: 84,800,324 (GRCm39) V903A probably benign Het
Myt1l A G 12: 29,876,885 (GRCm39) T179A unknown Het
Nckap1 C T 2: 80,411,297 (GRCm39) V5M possibly damaging Het
Or1e23 T C 11: 73,407,167 (GRCm39) N286S probably damaging Het
Or51l4 T C 7: 103,404,213 (GRCm39) D193G probably damaging Het
Or9a2 A T 6: 41,749,047 (GRCm39) L62Q probably damaging Het
Pcdhb5 T G 18: 37,455,838 (GRCm39) probably null Het
Pcm1 C A 8: 41,729,160 (GRCm39) Q711K possibly damaging Het
Pde6a A G 18: 61,353,864 (GRCm39) D63G possibly damaging Het
Piezo1 T C 8: 123,224,609 (GRCm39) M711V possibly damaging Het
Rev1 G A 1: 38,138,021 (GRCm39) T88I probably damaging Het
Sntg1 A T 1: 8,665,634 (GRCm39) probably null Het
Sult2a1 T A 7: 13,566,565 (GRCm39) T137S probably benign Het
Txndc15 G A 13: 55,873,488 (GRCm39) A283T probably damaging Het
Zswim8 A G 14: 20,766,069 (GRCm39) E785G probably damaging Het
Other mutations in Aurkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Aurkc APN 7 6,999,547 (GRCm39) missense probably damaging 1.00
R0282:Aurkc UTSW 7 7,005,427 (GRCm39) splice site probably null
R0615:Aurkc UTSW 7 7,005,402 (GRCm39) missense possibly damaging 0.82
R3498:Aurkc UTSW 7 7,003,029 (GRCm39) missense probably damaging 1.00
R3607:Aurkc UTSW 7 7,005,859 (GRCm39) missense probably damaging 1.00
R4682:Aurkc UTSW 7 6,998,538 (GRCm39) missense probably null 0.00
R5739:Aurkc UTSW 7 7,005,859 (GRCm39) missense probably benign 0.01
R7592:Aurkc UTSW 7 7,003,006 (GRCm39) missense probably benign 0.01
R8483:Aurkc UTSW 7 6,999,664 (GRCm39) nonsense probably null
R8933:Aurkc UTSW 7 7,005,796 (GRCm39) missense possibly damaging 0.92
R9003:Aurkc UTSW 7 6,999,547 (GRCm39) missense probably damaging 1.00
X0025:Aurkc UTSW 7 6,998,527 (GRCm39) splice site probably null
Z1176:Aurkc UTSW 7 6,998,513 (GRCm39) frame shift probably null
Posted On 2013-04-17