Incidental Mutation 'IGL00335:Aurkc'
ID 5333
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 # IGL00335
Quality Score
Status
Chromosome 7
Chromosomal Location 6998346-7006090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6999547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 18 (I18N)
Ref Sequence ENSEMBL: ENSMUSP00000146898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086248] [ENSMUST00000207660] [ENSMUST00000207711] [ENSMUST00000208049] [ENSMUST00000208518]
AlphaFold O88445
Predicted Effect probably damaging
Transcript: ENSMUST00000086248
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083426
Gene: ENSMUSG00000070837
AA Change: I57N

DomainStartEndE-ValueType
S_TKc 55 305 1.39e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207660
Predicted Effect probably damaging
Transcript: ENSMUST00000207711
AA Change: I18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208049
AA Change: I18N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208518
AA Change: I18N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,769,833 (GRCm39) noncoding transcript Het
4930579F01Rik C A 3: 137,891,959 (GRCm39) probably benign Het
Bace1 T C 9: 45,750,588 (GRCm39) probably null Het
Chrne C T 11: 70,506,588 (GRCm39) V311I probably benign Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cyp2c70 C T 19: 40,156,020 (GRCm39) V177M probably damaging Het
Dusp10 A G 1: 183,801,328 (GRCm39) E365G probably benign Het
Fcgbp C A 7: 27,785,560 (GRCm39) N332K possibly damaging Het
Irx4 T C 13: 73,416,810 (GRCm39) V402A probably benign Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lama3 A G 18: 12,582,645 (GRCm39) probably benign Het
Lhfpl7 A G 5: 113,383,869 (GRCm39) R96G probably benign Het
Lrrc8b T C 5: 105,628,365 (GRCm39) I237T probably damaging Het
Mepe G T 5: 104,485,843 (GRCm39) G328C probably damaging Het
Numb A G 12: 83,854,906 (GRCm39) I129T probably damaging Het
Or5h25 T C 16: 58,930,961 (GRCm39) D4G probably benign Het
Or6c209 T C 10: 129,483,306 (GRCm39) I103T probably benign Het
Osmr T C 15: 6,866,504 (GRCm39) D390G probably benign Het
Pglyrp3 G A 3: 91,929,986 (GRCm39) V51I probably damaging Het
Phactr2 T C 10: 13,121,279 (GRCm39) T470A probably damaging Het
Psmg1 G A 16: 95,781,268 (GRCm39) T259I possibly damaging Het
Rtl3 T C X: 105,882,543 (GRCm39) T240A probably benign Het
Ryr1 C T 7: 28,824,385 (GRCm39) probably null Het
Slc10a6 A G 5: 103,756,991 (GRCm39) S258P probably benign Het
Slc1a6 T C 10: 78,637,647 (GRCm39) L391P probably damaging Het
Slc6a7 C T 18: 61,134,681 (GRCm39) V465M possibly damaging Het
Sost T C 11: 101,857,705 (GRCm39) D32G probably damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tifab A G 13: 56,324,282 (GRCm39) S54P probably damaging Het
Tnrc6a T A 7: 122,770,003 (GRCm39) S598T probably benign Het
Vmn2r1 T A 3: 64,012,809 (GRCm39) I890N probably damaging Het
Wapl A G 14: 34,414,593 (GRCm39) D485G probably benign Het
Wee2 A T 6: 40,438,995 (GRCm39) I373F probably damaging Het
Xkr6 A G 14: 64,056,664 (GRCm39) T192A probably damaging Het
Zfp638 A G 6: 83,956,700 (GRCm39) D1769G probably damaging Het
Other mutations in Aurkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Aurkc APN 7 7,005,513 (GRCm39) missense possibly damaging 0.61
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 2012-04-20