Incidental Mutation 'R0674:Nek6'
ID 61552
Institutional Source Beutler Lab
Gene Symbol Nek6
Ensembl Gene ENSMUSG00000026749
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 6
Synonyms 1300007C09Rik
MMRRC Submission 038859-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R0674 (G1)
Quality Score 101
Status Validated
Chromosome 2
Chromosomal Location 38401655-38484618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 38448916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 95 (G95R)
Ref Sequence ENSEMBL: ENSMUSP00000114376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054234] [ENSMUST00000112895] [ENSMUST00000112902] [ENSMUST00000151683] [ENSMUST00000156726]
AlphaFold Q9ES70
Predicted Effect probably benign
Transcript: ENSMUST00000054234
AA Change: G95R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
AA Change: G95R

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112895
AA Change: G95R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
AA Change: G95R

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112902
AA Change: G84R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749
AA Change: G84R

DomainStartEndE-ValueType
S_TKc 34 299 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151683
Predicted Effect possibly damaging
Transcript: ENSMUST00000156726
AA Change: G95R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114376
Gene: ENSMUSG00000026749
AA Change: G95R

DomainStartEndE-ValueType
Pfam:Pkinase 45 108 6.6e-13 PFAM
Pfam:Pkinase_Tyr 45 108 1.5e-9 PFAM
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 90.4%
Validation Efficiency 97% (124/128)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: No significant homozygous or heterozygous mutant phenotype was detected in a high throughput screen of a targeted mutation, however these homozygotes exhibit an increased response of the heart to induced stress, with aggravated cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI

All alleles(128) : Targeted(3) Gene trapped(125)
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar A G 3: 89,657,130 (GRCm39) probably benign Het
Adgrl2 A T 3: 148,543,315 (GRCm39) M803K possibly damaging Het
Atp13a5 T C 16: 29,067,102 (GRCm39) probably benign Het
Atp2a3 T C 11: 72,872,711 (GRCm39) I753T probably damaging Het
Bace2 G A 16: 97,237,949 (GRCm39) V467M possibly damaging Het
Bltp1 T A 3: 37,098,775 (GRCm39) V1134E possibly damaging Het
Ccser2 A G 14: 36,640,548 (GRCm39) C11R possibly damaging Het
Cd2ap T A 17: 43,156,283 (GRCm39) I85F possibly damaging Het
Cd2bp2 C T 7: 126,794,008 (GRCm39) E94K probably damaging Het
Chrna3 C A 9: 54,922,456 (GRCm39) A451S probably damaging Het
Cmya5 C A 13: 93,229,299 (GRCm39) V1930F probably damaging Het
Csmd1 T C 8: 16,050,550 (GRCm39) T2229A probably benign Het
Csrnp2 A T 15: 100,385,872 (GRCm39) L122H probably damaging Het
Cyp11b2 G A 15: 74,727,393 (GRCm39) P96L probably damaging Het
Ddr1 G T 17: 36,000,561 (GRCm39) S368* probably null Het
E2f1 T C 2: 154,406,029 (GRCm39) K115E probably damaging Het
Erlec1 A T 11: 30,885,073 (GRCm39) probably benign Het
Fus T A 7: 127,571,948 (GRCm39) probably benign Het
Gml G A 15: 74,685,709 (GRCm39) T92I probably damaging Het
Herc1 T C 9: 66,408,474 (GRCm39) S4567P probably damaging Het
Iglc2 A G 16: 19,017,591 (GRCm39) S5P probably benign Het
Itgam T C 7: 127,715,390 (GRCm39) V1028A possibly damaging Het
Krt222 T A 11: 99,127,086 (GRCm39) N178I probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Luzp1 C T 4: 136,270,768 (GRCm39) T997I possibly damaging Het
Maml1 G T 11: 50,148,885 (GRCm39) Q952K probably benign Het
Map2 A G 1: 66,452,361 (GRCm39) E499G probably damaging Het
Map4k4 A T 1: 40,042,975 (GRCm39) H118L probably damaging Het
Myzap T C 9: 71,422,426 (GRCm39) D382G probably damaging Het
Naip5 T C 13: 100,359,707 (GRCm39) T510A probably benign Het
Nphp3 T C 9: 103,913,481 (GRCm39) probably null Het
Nr1d2 T C 14: 18,215,086 (GRCm38) S309G probably benign Het
Nrcam A T 12: 44,611,105 (GRCm39) I570F probably benign Het
Oas1d T C 5: 121,058,049 (GRCm39) I331T probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4f14 A T 2: 111,743,018 (GRCm39) F86I probably benign Het
Or51b6 T C 7: 103,556,462 (GRCm39) V272A probably benign Het
Pex5l A T 3: 33,006,765 (GRCm39) W535R probably damaging Het
Pisd C T 5: 32,931,781 (GRCm39) R202H probably benign Het
Plxna2 A G 1: 194,331,783 (GRCm39) N403S probably benign Het
Prdm12 A G 2: 31,533,924 (GRCm39) I180M probably benign Het
Prpf6 A G 2: 181,273,767 (GRCm39) T304A probably benign Het
Ptprm G A 17: 67,498,336 (GRCm39) T35I possibly damaging Het
Ptx3 T A 3: 66,132,148 (GRCm39) I223N probably damaging Het
Pygb G A 2: 150,657,054 (GRCm39) probably null Het
Qrsl1 A G 10: 43,771,997 (GRCm39) probably benign Het
Rad51ap2 T C 12: 11,508,818 (GRCm39) probably null Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Rimbp3 T C 16: 17,030,601 (GRCm39) S1342P probably benign Het
Slc22a14 C A 9: 119,007,608 (GRCm39) R267L probably damaging Het
Slco6c1 T A 1: 97,032,498 (GRCm39) probably benign Het
Tcp1 T C 17: 13,142,131 (GRCm39) I375T probably damaging Het
Tiparp T C 3: 65,460,586 (GRCm39) I525T probably benign Het
Tjp2 A G 19: 24,108,680 (GRCm39) L144P probably benign Het
Tssk2 A G 16: 17,716,930 (GRCm39) D111G probably benign Het
Ttn T C 2: 76,775,823 (GRCm39) T1740A possibly damaging Het
Vmn2r102 T A 17: 19,898,129 (GRCm39) D381E probably benign Het
Vsig10 C T 5: 117,481,911 (GRCm39) T367M probably damaging Het
Wnt11 T C 7: 98,495,735 (GRCm39) C80R probably damaging Het
Zar1 T A 5: 72,737,643 (GRCm39) probably null Het
Zfp52 A T 17: 21,782,108 (GRCm39) H652L probably damaging Het
Zpr1 T A 9: 46,186,747 (GRCm39) L194Q probably damaging Het
Other mutations in Nek6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03112:Nek6 APN 2 38,450,914 (GRCm39) missense probably damaging 1.00
P0005:Nek6 UTSW 2 38,459,749 (GRCm39) critical splice donor site probably null
R0014:Nek6 UTSW 2 38,448,856 (GRCm39) splice site probably benign
R0709:Nek6 UTSW 2 38,447,858 (GRCm39) missense probably damaging 0.99
R0835:Nek6 UTSW 2 38,459,643 (GRCm39) missense possibly damaging 0.76
R1548:Nek6 UTSW 2 38,458,907 (GRCm39) missense probably damaging 0.99
R1773:Nek6 UTSW 2 38,472,431 (GRCm39) missense probably benign 0.25
R1901:Nek6 UTSW 2 38,472,458 (GRCm39) missense probably damaging 1.00
R4080:Nek6 UTSW 2 38,440,649 (GRCm39) missense probably damaging 0.99
R4563:Nek6 UTSW 2 38,475,305 (GRCm39) missense probably damaging 1.00
R6207:Nek6 UTSW 2 38,447,846 (GRCm39) missense possibly damaging 0.82
R6865:Nek6 UTSW 2 38,459,678 (GRCm39) missense probably benign
R7339:Nek6 UTSW 2 38,450,977 (GRCm39) missense probably damaging 1.00
R8536:Nek6 UTSW 2 38,404,797 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GGCTGGATACAATGACTCTCACCAC -3'
(R):5'- GGCCACATAGCTTAGAAGGAAGACATC -3'

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