Incidental Mutation 'R6039:Nek9'
ID 486754
Institutional Source Beutler Lab
Gene Symbol Nek9
Ensembl Gene ENSMUSG00000034290
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 9
Synonyms C130021H08Rik
MMRRC Submission 043259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 85346288-85386136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85359859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 531 (A531V)
Ref Sequence ENSEMBL: ENSMUSP00000049056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040992]
AlphaFold Q8K1R7
Predicted Effect probably benign
Transcript: ENSMUST00000040992
AA Change: A531V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: A531V

DomainStartEndE-ValueType
low complexity region 19 49 N/A INTRINSIC
S_TKc 52 308 1.07e-73 SMART
Pfam:RCC1 389 441 1.2e-9 PFAM
Pfam:RCC1_2 428 457 1.5e-8 PFAM
Pfam:RCC1 444 495 3.6e-13 PFAM
Pfam:RCC1_2 482 511 3.6e-11 PFAM
Pfam:RCC1 499 547 7.6e-14 PFAM
Pfam:RCC1 615 665 4.2e-8 PFAM
Pfam:RCC1_2 652 681 4.4e-7 PFAM
low complexity region 752 767 N/A INTRINSIC
low complexity region 889 900 N/A INTRINSIC
low complexity region 910 927 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
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 NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C T 6: 92,885,527 (GRCm39) R416Q possibly damaging Het
Adgre1 C A 17: 57,713,859 (GRCm39) D181E probably benign Het
Arhgap24 T C 5: 103,028,652 (GRCm39) S183P probably damaging Het
Asb1 T C 1: 91,474,748 (GRCm39) L90P probably damaging Het
Bmp3 T C 5: 99,020,209 (GRCm39) F211L probably benign Het
C8a A G 4: 104,703,139 (GRCm39) I306T probably benign Het
Cdkn3 G A 14: 47,007,373 (GRCm39) G177R probably damaging Het
Chat A G 14: 32,170,984 (GRCm39) S172P probably damaging Het
Chd5 CAAGAAGAAGAAGAAGAA CAAGAAGAAGAAGAA 4: 152,438,078 (GRCm39) probably benign Het
Cyp4a12a T C 4: 115,184,420 (GRCm39) I265T probably damaging Het
Dlst T A 12: 85,165,664 (GRCm39) probably null Het
Dnmt1 A T 9: 20,837,716 (GRCm39) probably benign Het
Fbn1 C T 2: 125,205,800 (GRCm39) E1066K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fstl1 T A 16: 37,641,538 (GRCm39) S105T probably benign Het
Gm19410 C G 8: 36,276,518 (GRCm39) A1725G probably benign Het
Hspb7 A G 4: 141,151,215 (GRCm39) N119S probably damaging Het
Il20 T A 1: 130,838,478 (GRCm39) D73V possibly damaging Het
Insrr T C 3: 87,716,608 (GRCm39) I612T possibly damaging Het
Kcnma1 T C 14: 23,359,105 (GRCm39) Y1107C probably benign Het
Klhl32 A G 4: 24,792,615 (GRCm39) probably null Het
Krt77 C A 15: 101,769,351 (GRCm39) R470L possibly damaging Het
Muc1 T C 3: 89,139,336 (GRCm39) Y579H probably damaging Het
Myof T C 19: 37,966,132 (GRCm39) D396G probably damaging Het
Myom1 T G 17: 71,417,746 (GRCm39) D1316E probably damaging Het
Nbea T C 3: 55,912,538 (GRCm39) E1083G probably benign Het
Nlrp12 A T 7: 3,290,002 (GRCm39) I170N possibly damaging Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Paqr4 T C 17: 23,958,968 (GRCm39) D11G probably damaging Het
Parp8 A G 13: 117,014,134 (GRCm39) S561P probably damaging Het
Pcgf5 T A 19: 36,420,306 (GRCm39) F179L probably damaging Het
Pde4d A T 13: 110,084,876 (GRCm39) Q422L probably damaging Het
Pigs T A 11: 78,232,651 (GRCm39) V495E probably damaging Het
Polh C T 17: 46,498,959 (GRCm39) R252H probably benign Het
Psg28 T C 7: 18,160,107 (GRCm39) D363G possibly damaging Het
Ptgir A T 7: 16,640,815 (GRCm39) I36F possibly damaging Het
Ptprr G A 10: 116,072,668 (GRCm39) probably null Het
Rax C T 18: 66,068,418 (GRCm39) G229D unknown Het
Secisbp2l T A 2: 125,615,136 (GRCm39) H163L probably benign Het
Sf3a2 A G 10: 80,637,297 (GRCm39) Y45C probably damaging Het
Sgo2a C T 1: 58,055,775 (GRCm39) T653I possibly damaging Het
Slc38a9 A T 13: 112,806,231 (GRCm39) I26F probably damaging Het
Slc5a8 A G 10: 88,722,436 (GRCm39) I90V probably benign Het
Slx4 G A 16: 3,803,911 (GRCm39) H968Y possibly damaging Het
Stam2 T C 2: 52,599,611 (GRCm39) T233A probably benign Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Trav4-2 G A 14: 53,655,866 (GRCm39) V8M possibly damaging Het
Ttll5 T A 12: 85,878,729 (GRCm39) H45Q probably damaging Het
Ttn C T 2: 76,714,762 (GRCm39) probably benign Het
Ush2a T A 1: 188,051,217 (GRCm39) F234L possibly damaging Het
Vmn2r74 T A 7: 85,607,526 (GRCm39) probably null Het
Wdr6 CTG C 9: 108,450,994 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,291 (GRCm39) S997P possibly damaging Het
Zfp853 G A 5: 143,274,529 (GRCm39) Q364* probably null Het
Other mutations in Nek9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Nek9 APN 12 85,361,361 (GRCm39) missense probably benign 0.23
IGL01595:Nek9 APN 12 85,361,194 (GRCm39) missense probably damaging 1.00
IGL01603:Nek9 APN 12 85,352,379 (GRCm39) missense probably damaging 1.00
IGL01893:Nek9 APN 12 85,383,174 (GRCm39) missense probably damaging 1.00
IGL02017:Nek9 APN 12 85,376,697 (GRCm39) missense probably damaging 1.00
IGL02197:Nek9 APN 12 85,354,704 (GRCm39) missense probably null
IGL02207:Nek9 APN 12 85,350,257 (GRCm39) nonsense probably null
IGL02749:Nek9 APN 12 85,352,281 (GRCm39) missense probably benign 0.02
IGL02756:Nek9 APN 12 85,358,110 (GRCm39) critical splice donor site probably null
IGL03343:Nek9 APN 12 85,350,383 (GRCm39) missense probably damaging 1.00
Rose_colored UTSW 12 85,350,311 (GRCm39) missense probably damaging 1.00
R0048:Nek9 UTSW 12 85,348,673 (GRCm39) missense probably benign 0.17
R0331:Nek9 UTSW 12 85,374,149 (GRCm39) splice site probably benign
R0499:Nek9 UTSW 12 85,348,657 (GRCm39) missense probably benign 0.09
R1484:Nek9 UTSW 12 85,348,622 (GRCm39) missense probably damaging 1.00
R1760:Nek9 UTSW 12 85,357,184 (GRCm39) missense probably benign 0.00
R1760:Nek9 UTSW 12 85,352,364 (GRCm39) missense possibly damaging 0.71
R1883:Nek9 UTSW 12 85,379,330 (GRCm39) missense probably damaging 1.00
R1884:Nek9 UTSW 12 85,379,330 (GRCm39) missense probably damaging 1.00
R1999:Nek9 UTSW 12 85,376,677 (GRCm39) missense probably damaging 1.00
R2046:Nek9 UTSW 12 85,367,481 (GRCm39) splice site probably benign
R2096:Nek9 UTSW 12 85,361,322 (GRCm39) missense probably benign 0.00
R2150:Nek9 UTSW 12 85,376,677 (GRCm39) missense probably damaging 1.00
R2368:Nek9 UTSW 12 85,376,661 (GRCm39) missense possibly damaging 0.89
R2570:Nek9 UTSW 12 85,379,320 (GRCm39) nonsense probably null
R4381:Nek9 UTSW 12 85,376,632 (GRCm39) missense probably damaging 1.00
R4570:Nek9 UTSW 12 85,367,508 (GRCm39) missense probably damaging 1.00
R4661:Nek9 UTSW 12 85,367,666 (GRCm39) missense possibly damaging 0.78
R4669:Nek9 UTSW 12 85,360,978 (GRCm39) missense probably benign 0.00
R4993:Nek9 UTSW 12 85,357,194 (GRCm39) missense probably damaging 1.00
R5071:Nek9 UTSW 12 85,374,233 (GRCm39) missense possibly damaging 0.70
R5090:Nek9 UTSW 12 85,376,616 (GRCm39) critical splice donor site probably null
R5248:Nek9 UTSW 12 85,355,751 (GRCm39) missense probably damaging 1.00
R5521:Nek9 UTSW 12 85,374,219 (GRCm39) missense probably benign 0.09
R5734:Nek9 UTSW 12 85,350,289 (GRCm39) missense probably benign
R6039:Nek9 UTSW 12 85,359,859 (GRCm39) missense probably benign 0.08
R6269:Nek9 UTSW 12 85,379,103 (GRCm39) splice site probably null
R6353:Nek9 UTSW 12 85,348,603 (GRCm39) missense probably damaging 0.96
R6406:Nek9 UTSW 12 85,385,946 (GRCm39) missense probably damaging 0.97
R6744:Nek9 UTSW 12 85,376,703 (GRCm39) missense probably benign 0.09
R6922:Nek9 UTSW 12 85,350,311 (GRCm39) missense probably damaging 1.00
R7603:Nek9 UTSW 12 85,350,288 (GRCm39) missense probably benign 0.00
R7686:Nek9 UTSW 12 85,350,433 (GRCm39) missense probably benign 0.01
R7905:Nek9 UTSW 12 85,352,370 (GRCm39) missense probably damaging 1.00
R7964:Nek9 UTSW 12 85,385,787 (GRCm39) missense probably benign 0.02
R8165:Nek9 UTSW 12 85,350,417 (GRCm39) missense probably benign 0.01
R8330:Nek9 UTSW 12 85,376,727 (GRCm39) missense probably damaging 1.00
R8802:Nek9 UTSW 12 85,374,192 (GRCm39) missense probably benign 0.19
R8859:Nek9 UTSW 12 85,353,120 (GRCm39) missense probably damaging 1.00
R8997:Nek9 UTSW 12 85,367,565 (GRCm39) missense probably benign 0.00
R9055:Nek9 UTSW 12 85,348,616 (GRCm39) missense probably damaging 0.99
R9261:Nek9 UTSW 12 85,359,841 (GRCm39) missense probably damaging 1.00
R9661:Nek9 UTSW 12 85,361,253 (GRCm39) missense possibly damaging 0.96
X0052:Nek9 UTSW 12 85,368,801 (GRCm39) critical splice donor site probably null
Z1177:Nek9 UTSW 12 85,380,819 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCAACATGGTTAAAACCTCAAG -3'
(R):5'- AGTCTTCCCTCTACAGAAGCC -3'

Sequencing Primer
(F):5'- TCAAGGGCCACTCACTTCATGG -3'
(R):5'- TCTCCAAAGGTGTAGGAGCCATTC -3'
Posted On 2017-08-16