Incidental Mutation 'R0657:Nek8'
ID 62584
Institutional Source Beutler Lab
Gene Symbol Nek8
Ensembl Gene ENSMUSG00000017405
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 8
Synonyms 4632401F23Rik, b2b1449Clo
MMRRC Submission 038842-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R0657 (G1)
Quality Score 198
Status Validated
Chromosome 11
Chromosomal Location 78056932-78067501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78062033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 237 (S237N)
Ref Sequence ENSEMBL: ENSMUSP00000017549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000148154]
AlphaFold Q91ZR4
Predicted Effect probably benign
Transcript: ENSMUST00000017549
AA Change: S237N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: S237N

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 noncoding transcript
Transcript: ENSMUST00000125528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147798
Predicted Effect unknown
Transcript: ENSMUST00000148154
AA Change: S97N
SMART Domains Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405
AA Change: S97N

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
Meta Mutation Damage Score 0.0824 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Aldh7a1 C T 18: 56,670,269 (GRCm39) probably benign Het
Bfsp1 A C 2: 143,669,570 (GRCm39) probably benign Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Chd7 T C 4: 8,753,141 (GRCm39) V546A probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
F13a1 A T 13: 37,152,079 (GRCm39) D237E probably damaging Het
F8 T C X: 74,255,022 (GRCm39) Q2124R possibly damaging Het
Hivep2 T C 10: 14,007,622 (GRCm39) S1407P probably benign Het
Hmgcs2 A G 3: 98,198,369 (GRCm39) T91A probably benign Het
Huwe1 T C X: 150,702,924 (GRCm39) I3463T probably benign Het
Iars1 T C 13: 49,855,995 (GRCm39) Y289H probably damaging Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Itgb1 T G 8: 129,449,335 (GRCm39) Y585D possibly damaging Het
Kif14 C T 1: 136,396,840 (GRCm39) T382I probably benign Het
Lypd10 T A 7: 24,412,872 (GRCm39) D93E probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mgat4b T C 11: 50,121,908 (GRCm39) V143A possibly damaging Het
Mroh2a C A 1: 88,183,287 (GRCm39) L1292I probably damaging Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfatc2ip A G 7: 125,990,507 (GRCm39) S165P probably benign Het
Or1e34 T C 11: 73,778,611 (GRCm39) M196V probably benign Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Patj C A 4: 98,555,885 (GRCm39) Q297K probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Ptch1 A G 13: 63,661,565 (GRCm39) V1054A possibly damaging Het
Slc17a5 G A 9: 78,485,956 (GRCm39) A43V probably damaging Het
Spata20 T A 11: 94,371,435 (GRCm39) D643V probably damaging Het
Tars2 A T 3: 95,655,869 (GRCm39) V289E probably benign Het
Tmem135 A T 7: 88,793,890 (GRCm39) I384N probably damaging Het
Trip12 C T 1: 84,736,771 (GRCm39) M816I probably benign Het
Ulk2 T C 11: 61,698,880 (GRCm39) probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign Het
Other mutations in Nek8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Nek8 APN 11 78,058,653 (GRCm39) missense probably damaging 0.96
IGL00914:Nek8 APN 11 78,063,901 (GRCm39) missense possibly damaging 0.80
nerkkod UTSW 11 78,063,885 (GRCm39) missense probably damaging 1.00
R0136:Nek8 UTSW 11 78,062,033 (GRCm39) missense probably benign 0.01
R0490:Nek8 UTSW 11 78,058,555 (GRCm39) missense probably benign 0.01
R1033:Nek8 UTSW 11 78,062,111 (GRCm39) missense probably null 1.00
R2848:Nek8 UTSW 11 78,058,967 (GRCm39) missense probably damaging 1.00
R3406:Nek8 UTSW 11 78,061,572 (GRCm39) nonsense probably null
R4211:Nek8 UTSW 11 78,061,309 (GRCm39) missense probably benign
R4810:Nek8 UTSW 11 78,058,629 (GRCm39) missense probably benign 0.00
R4811:Nek8 UTSW 11 78,058,544 (GRCm39) splice site probably null
R5108:Nek8 UTSW 11 78,063,353 (GRCm39) missense probably damaging 0.96
R5124:Nek8 UTSW 11 78,063,765 (GRCm39) missense probably damaging 1.00
R5177:Nek8 UTSW 11 78,061,297 (GRCm39) nonsense probably null
R5212:Nek8 UTSW 11 78,063,342 (GRCm39) start codon destroyed probably null 0.02
R5386:Nek8 UTSW 11 78,061,263 (GRCm39) splice site probably null
R5921:Nek8 UTSW 11 78,063,885 (GRCm39) missense probably damaging 1.00
R5977:Nek8 UTSW 11 78,058,651 (GRCm39) missense probably benign 0.01
R8010:Nek8 UTSW 11 78,067,422 (GRCm39) missense probably damaging 1.00
R8195:Nek8 UTSW 11 78,061,587 (GRCm39) missense possibly damaging 0.77
R8784:Nek8 UTSW 11 78,063,375 (GRCm39) missense probably damaging 1.00
R9189:Nek8 UTSW 11 78,063,342 (GRCm39) missense probably benign 0.38
R9555:Nek8 UTSW 11 78,067,390 (GRCm39) missense probably benign 0.21
X0026:Nek8 UTSW 11 78,058,931 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AATGAACAGTTGGCCCTAAACCTCC -3'
(R):5'- CATAGCTGAAGCCTCTGTGTCAGAC -3'

Sequencing Primer
(F):5'- AAACCTCCTATGTTCTCACTGG -3'
(R):5'- atccacctgccactgcc -3'
Posted On 2013-07-30