Incidental Mutation 'R1033:Nek8'
ID 95301
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 039132-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R1033 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78056932-78067501 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78062111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 71 (L71Q)
Ref Sequence ENSEMBL: ENSMUSP00000127554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000148154]
AlphaFold Q91ZR4
Predicted Effect probably damaging
Transcript: ENSMUST00000017549
AA Change: L211Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: L211Q

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 probably null
Transcript: ENSMUST00000148154
AA Change: L71Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405
AA Change: L71Q

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.7%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Akap6 A C 12: 53,116,005 (GRCm39) D1036A probably damaging Het
Alg6 T C 4: 99,650,270 (GRCm39) S497P probably benign Het
Arhgap10 T A 8: 77,983,976 (GRCm39) I700L possibly damaging Het
Atp11a A G 8: 12,878,555 (GRCm39) Y377C probably damaging Het
Atp2b2 A T 6: 113,770,849 (GRCm39) probably null Het
Card14 T A 11: 119,229,196 (GRCm39) V702D probably damaging Het
Ccdc17 C T 4: 116,454,077 (GRCm39) R32* probably null Het
Cdh20 A T 1: 110,012,783 (GRCm39) D372V probably damaging Het
Cfap54 A T 10: 92,675,311 (GRCm39) I2870N probably benign Het
Cped1 G T 6: 22,016,950 (GRCm39) V100F probably damaging Het
Dapk1 T C 13: 60,869,679 (GRCm39) probably null Het
Exoc4 G A 6: 33,242,922 (GRCm39) G45D probably damaging Het
Fam110b A T 4: 5,799,440 (GRCm39) N286I probably benign Het
Fbxo10 A T 4: 45,062,236 (GRCm39) C97S probably damaging Het
Frem3 A T 8: 81,421,786 (GRCm39) H2062L probably benign Het
Frk T C 10: 34,484,454 (GRCm39) C476R probably damaging Het
Gm10542 A G 18: 44,337,668 (GRCm39) T49A probably benign Het
Gm128 A G 3: 95,147,322 (GRCm39) V324A possibly damaging Het
Gpr141 C T 13: 19,935,880 (GRCm39) M298I probably benign Het
Gxylt1 T C 15: 93,142,958 (GRCm39) E369G probably benign Het
Hpse2 A G 19: 42,901,638 (GRCm39) V368A probably benign Het
Ice1 A T 13: 70,754,713 (GRCm39) S458T probably damaging Het
Itgb7 T A 15: 102,131,989 (GRCm39) D198V probably damaging Het
Kcnk10 A G 12: 98,484,929 (GRCm39) V72A possibly damaging Het
Magel2 A G 7: 62,029,798 (GRCm39) M901V unknown Het
Mgam A T 6: 40,657,558 (GRCm39) Y971F probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mug1 A T 6: 121,857,510 (GRCm39) D1078V probably damaging Het
Myom2 G A 8: 15,158,934 (GRCm39) R870H probably benign Het
Nox4 T A 7: 87,023,621 (GRCm39) D502E probably damaging Het
Nsmaf G A 4: 6,438,054 (GRCm39) P73S probably damaging Het
Nup205 C T 6: 35,204,377 (GRCm39) A1421V probably benign Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or1p1 A C 11: 74,179,492 (GRCm39) T7P probably damaging Het
Or3a1 A C 11: 74,225,462 (GRCm39) N198K possibly damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Or5al7 A G 2: 85,993,194 (GRCm39) I33T possibly damaging Het
Pals2 T C 6: 50,160,716 (GRCm39) Y326H probably damaging Het
Prkdc T C 16: 15,585,815 (GRCm39) L2451P probably damaging Het
Rad51ap2 C T 12: 11,506,252 (GRCm39) S58F probably damaging Het
Rbbp8 A G 18: 11,875,762 (GRCm39) R892G probably benign Het
Rock1 A G 18: 10,067,535 (GRCm39) S1333P probably benign Het
Rpl7 A G 1: 16,172,728 (GRCm39) I197T probably benign Het
Sar1a C A 10: 61,521,395 (GRCm39) Q81K probably damaging Het
Shank1 A T 7: 44,006,220 (GRCm39) H1979L possibly damaging Het
Slc10a2 C T 8: 5,154,889 (GRCm39) V99M probably damaging Het
Slc22a30 G A 19: 8,313,165 (GRCm39) Q436* probably null Het
Spata31e2 G A 1: 26,721,466 (GRCm39) P1238L probably benign Het
Speer4a2 T C 5: 26,294,125 (GRCm39) K18E probably benign Het
Szt2 C T 4: 118,244,303 (GRCm39) R1305H probably damaging Het
Ubash3a G A 17: 31,427,186 (GRCm39) G32S probably damaging Het
Vmn1r200 G A 13: 22,580,060 (GRCm39) D279N probably damaging Het
Zbtb8a T C 4: 129,248,014 (GRCm39) D419G possibly damaging 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
R0657:Nek8 UTSW 11 78,062,033 (GRCm39) missense probably benign 0.01
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 2014-01-05