Incidental Mutation 'R0615:Aurkc'
ID 55016
Institutional Source Beutler Lab
Gene Symbol Aurkc
Ensembl Gene ENSMUSG00000070837
Gene Name aurora kinase C
Synonyms IAK3, AIE1, Stk13, AIK3
MMRRC Submission 038804-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0615 (G1)
Quality Score 152
Status Validated
Chromosome 7
Chromosomal Location 6998346-7006090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7005402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 223 (I223L)
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: I223L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083426
Gene: ENSMUSG00000070837
AA Change: I223L

DomainStartEndE-ValueType
S_TKc 55 305 1.39e-95 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207660
AA Change: I92L

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000207711
AA Change: I184L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000208049
AA Change: I184L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000208518
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,040,962 (GRCm39) I31T possibly damaging Het
Abca13 A G 11: 9,206,197 (GRCm39) I166V probably damaging Het
Acaa2 G T 18: 74,931,517 (GRCm39) V238L probably benign Het
Ahsg A T 16: 22,717,805 (GRCm39) I296F possibly damaging Het
Aspm T A 1: 139,415,027 (GRCm39) V1436D probably damaging Het
Ate1 A T 7: 130,115,563 (GRCm39) probably benign Het
Atosa T A 9: 74,911,570 (GRCm39) Y14N probably damaging Het
Atp1a4 A T 1: 172,059,627 (GRCm39) probably benign Het
Bckdha G T 7: 25,341,210 (GRCm39) D50E probably benign Het
Brf2 C T 8: 27,614,059 (GRCm39) E376K probably benign Het
Cdk9 C A 2: 32,599,813 (GRCm39) L141F possibly damaging Het
Cgn A C 3: 94,678,024 (GRCm39) probably benign Het
Clcn1 G A 6: 42,282,509 (GRCm39) V526I probably damaging Het
Cnot2 A G 10: 116,334,141 (GRCm39) V343A possibly damaging Het
Commd2 A T 3: 57,554,116 (GRCm39) V195D possibly damaging Het
Cubn C T 2: 13,365,063 (GRCm39) probably null Het
Eif2ak4 C T 2: 118,266,666 (GRCm39) T729M probably damaging Het
Elac1 A T 18: 73,871,954 (GRCm39) V347E probably damaging Het
Fam209 T C 2: 172,316,053 (GRCm39) S143P probably benign Het
Fam20c G A 5: 138,793,241 (GRCm39) R454Q probably damaging Het
Faxc C T 4: 21,958,608 (GRCm39) S255L probably benign Het
Fem1al C A 11: 29,774,515 (GRCm39) R314L probably damaging Het
Foxj1 T C 11: 116,224,908 (GRCm39) D153G possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Lmo7 T A 14: 102,114,295 (GRCm39) Y12* probably null Het
Matn3 T G 12: 9,013,594 (GRCm39) C425W probably damaging Het
Mmd2 A T 5: 142,550,668 (GRCm39) M190K probably benign Het
Morn2 A T 17: 80,603,026 (GRCm39) T102S probably damaging Het
Nr3c2 A C 8: 77,912,518 (GRCm39) T710P probably benign Het
Nrros C A 16: 31,962,903 (GRCm39) L343F probably damaging Het
Ntrk2 C T 13: 59,276,000 (GRCm39) Q767* probably null Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4k47 C T 2: 111,452,264 (GRCm39) D52N possibly damaging Het
Plekhf2 C T 4: 10,991,330 (GRCm39) R4H probably benign Het
Ppox A G 1: 171,105,387 (GRCm39) probably benign Het
Qprt T A 7: 126,708,248 (GRCm39) D61V probably damaging Het
Reln A G 5: 22,215,148 (GRCm39) V1101A probably benign Het
Sbno1 T C 5: 124,548,202 (GRCm39) N124D probably damaging Het
Scx C T 15: 76,342,295 (GRCm39) P165L probably benign Het
Sema6d T C 2: 124,496,055 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,336 (GRCm39) F92L probably benign Het
Synpo2 A T 3: 122,910,936 (GRCm39) N236K probably damaging Het
Tbc1d32 C A 10: 56,100,736 (GRCm39) D81Y probably benign Het
Terf2 G A 8: 107,809,622 (GRCm39) T232I possibly damaging Het
Tpd52l2 A G 2: 181,143,744 (GRCm39) E50G probably damaging Het
Tprn A G 2: 25,154,210 (GRCm39) E504G probably damaging Het
Tufm G T 7: 126,086,654 (GRCm39) R12L probably benign Het
Vmn2r8 A G 5: 108,947,195 (GRCm39) F519S probably damaging Het
Vwa8 T C 14: 79,145,590 (GRCm39) V89A probably benign Het
Wnt3 T C 11: 103,703,207 (GRCm39) I230T possibly damaging Het
Zan A T 5: 137,466,693 (GRCm39) F388Y probably damaging Het
Zfp474 C T 18: 52,771,421 (GRCm39) L25F probably benign Het
Other mutations in Aurkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Aurkc APN 7 6,999,547 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCCATTTCCTTGGAAGCTGAACAG -3'
(R):5'- TGGCACCCTTTTGGCTATTAGCAG -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- AGGAGCCATCACTGTCTGG -3'
Posted On 2013-07-11