Incidental Mutation 'IGL01582:Aurkb'
ID 91389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aurkb
Ensembl Gene ENSMUSG00000020897
Gene Name aurora kinase B
Synonyms Stk5, IPL1, STK-1, AIRK2, aurora B, Aik2, Stk12
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01582
Quality Score
Status
Chromosome 11
Chromosomal Location 68936473-68942490 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68939605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 201 (V201I)
Ref Sequence ENSEMBL: ENSMUSP00000104306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021277] [ENSMUST00000108666]
AlphaFold O70126
Predicted Effect probably damaging
Transcript: ENSMUST00000021277
AA Change: V201I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021277
Gene: ENSMUSG00000020897
AA Change: V201I

DomainStartEndE-ValueType
S_TKc 82 332 2.75e-94 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108666
AA Change: V201I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104306
Gene: ENSMUSG00000020897
AA Change: V201I

DomainStartEndE-ValueType
S_TKc 82 332 2.75e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149018
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 2 and 7. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. [provided by RefSeq, Sep 2015]
PHENOTYPE: Heterozygous null mice may develop oligospermia and show premature death and increased tumor incidence. Homozygous null embryos are small and die post-implantation showing reduced inner cell mass outgrowth, mitotic defects, aberrant trophoblast giant cells, edema, hemorrhage and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Csmd2 G T 4: 128,457,098 (GRCm39) E212* probably null Het
Dsg1a G T 18: 20,461,905 (GRCm39) K335N probably null Het
Epn2 A G 11: 61,412,695 (GRCm39) S430P probably benign Het
Ezh2 A T 6: 47,532,989 (GRCm39) Y144* probably null Het
Fcgbp G T 7: 27,793,067 (GRCm39) D1024Y probably benign Het
Gramd2b A G 18: 56,618,488 (GRCm39) E232G probably damaging Het
Inf2 A G 12: 112,576,993 (GRCm39) K989R unknown Het
Lrpprc G A 17: 85,061,971 (GRCm39) A577V probably null Het
Mansc1 T A 6: 134,598,836 (GRCm39) N27I possibly damaging Het
Nr1i3 A T 1: 171,042,541 (GRCm39) I56F possibly damaging Het
Ntpcr T C 8: 126,471,981 (GRCm39) S64P probably benign Het
Or52e19b A T 7: 103,032,806 (GRCm39) Y134* probably null Het
Ppwd1 A G 13: 104,350,212 (GRCm39) I391T probably benign Het
Serpinb3d A G 1: 107,007,396 (GRCm39) F197L probably damaging Het
Siglecf A G 7: 43,008,145 (GRCm39) N553D possibly damaging Het
Slc2a2 A G 3: 28,762,637 (GRCm39) D60G probably benign Het
Speer1j A G 5: 11,555,240 (GRCm39) T70A probably benign Het
Spsb4 T G 9: 96,878,143 (GRCm39) D60A probably damaging Het
Tnnt1 T C 7: 4,512,982 (GRCm39) E100G probably damaging Het
Zmiz1 T C 14: 25,658,654 (GRCm39) M938T probably benign Het
Other mutations in Aurkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0193:Aurkb UTSW 11 68,939,370 (GRCm39) missense probably damaging 1.00
R0924:Aurkb UTSW 11 68,936,822 (GRCm39) nonsense probably null
R4622:Aurkb UTSW 11 68,939,188 (GRCm39) missense probably damaging 1.00
R4664:Aurkb UTSW 11 68,939,435 (GRCm39) missense probably damaging 0.98
R4933:Aurkb UTSW 11 68,938,970 (GRCm39) intron probably benign
R5243:Aurkb UTSW 11 68,936,752 (GRCm39) splice site probably benign
R5705:Aurkb UTSW 11 68,939,641 (GRCm39) missense possibly damaging 0.87
R6457:Aurkb UTSW 11 68,939,172 (GRCm39) missense possibly damaging 0.77
R6604:Aurkb UTSW 11 68,939,388 (GRCm39) nonsense probably null
R7739:Aurkb UTSW 11 68,939,058 (GRCm39) nonsense probably null
R8461:Aurkb UTSW 11 68,941,727 (GRCm39) missense probably damaging 0.98
R9289:Aurkb UTSW 11 68,941,175 (GRCm39) missense probably damaging 1.00
Z1186:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1186:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1187:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1187:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1188:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1188:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1189:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1189:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1190:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1190:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1191:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1191:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Z1192:Aurkb UTSW 11 68,938,696 (GRCm39) missense probably benign
Z1192:Aurkb UTSW 11 68,938,692 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09