Incidental Mutation 'IGL00914:Nek8'
ID28509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek8
Ensembl Gene ENSMUSG00000017405
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 8
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.866) question?
Stock #IGL00914
Quality Score
Status
Chromosome11
Chromosomal Location78166106-78176675 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78173075 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 35 (I35V)
Ref Sequence ENSEMBL: ENSMUSP00000017549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000098545] [ENSMUST00000148154]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017549
AA Change: I35V

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: I35V

DomainStartEndE-ValueType
S_TKc 4 258 1.59e-81 SMART
low complexity region 288 316 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
Pfam:RCC1 415 464 4.1e-12 PFAM
Pfam:RCC1_2 451 480 9.2e-10 PFAM
Pfam:RCC1 467 516 9.9e-16 PFAM
Pfam:RCC1 585 634 4.4e-15 PFAM
Pfam:RCC1 637 687 2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098545
SMART Domains Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

DomainStartEndE-ValueType
TLC 40 207 5.98e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147798
Predicted Effect probably benign
Transcript: ENSMUST00000148154
SMART Domains Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405

DomainStartEndE-ValueType
Pfam:Pkinase 1 103 4.1e-20 PFAM
Pfam:Pkinase_Tyr 1 103 3.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152611
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display kidney cysts primarily in the cortex, progressive kidney enlargement, increased serum creatinine levels, impaired maternal nurturing, and premature death. Heterotaxy with congenital heart disease such as hypoplastic right ventricle and small tricuspid valve is seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T G 10: 20,984,299 probably null Het
Aipl1 T C 11: 72,031,547 D112G probably damaging Het
Casz1 G A 4: 148,929,371 E131K probably damaging Het
Chrna4 A G 2: 181,029,031 Y311H probably damaging Het
Cyp2d34 G T 15: 82,620,714 N48K probably damaging Het
Dnajc13 T A 9: 104,212,882 K696I possibly damaging Het
Fbxo30 T C 10: 11,290,539 V335A probably benign Het
Itga5 A G 15: 103,350,372 probably null Het
Morc2a G A 11: 3,668,844 probably null Het
Olfr1453 A G 19: 13,027,591 V246A probably damaging Het
Olfr893 A G 9: 38,209,799 probably null Het
Pcyt2 A G 11: 120,614,325 probably benign Het
Sec23b T G 2: 144,566,864 S156R probably damaging Het
Shc3 T A 13: 51,480,227 probably benign Het
Sntg2 A G 12: 30,257,957 probably benign Het
Srms T A 2: 181,207,772 M280L probably benign Het
Wdr60 A G 12: 116,232,603 V508A probably damaging Het
Other mutations in Nek8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Nek8 APN 11 78167827 missense probably damaging 0.96
nerkkod UTSW 11 78173059 missense probably damaging 1.00
R0136:Nek8 UTSW 11 78171207 missense probably benign 0.01
R0490:Nek8 UTSW 11 78167729 missense probably benign 0.01
R0657:Nek8 UTSW 11 78171207 missense probably benign 0.01
R1033:Nek8 UTSW 11 78171285 missense probably null 1.00
R2848:Nek8 UTSW 11 78168141 missense probably damaging 1.00
R3406:Nek8 UTSW 11 78170746 nonsense probably null
R4211:Nek8 UTSW 11 78170483 missense probably benign
R4810:Nek8 UTSW 11 78167803 missense probably benign 0.00
R4811:Nek8 UTSW 11 78167718 splice site probably null
R5108:Nek8 UTSW 11 78172527 missense probably damaging 0.96
R5124:Nek8 UTSW 11 78172939 missense probably damaging 1.00
R5177:Nek8 UTSW 11 78170471 nonsense probably null
R5212:Nek8 UTSW 11 78172516 start codon destroyed probably null 0.02
R5386:Nek8 UTSW 11 78170437 unclassified probably null
R5921:Nek8 UTSW 11 78173059 missense probably damaging 1.00
R5977:Nek8 UTSW 11 78167825 missense probably benign 0.01
X0026:Nek8 UTSW 11 78168105 missense probably damaging 0.97
Posted On2013-04-17