Incidental Mutation 'R6207:Nek6'
ID 503170
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 044341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 38401655-38484618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38447846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 37 (S37P)
Ref Sequence ENSEMBL: ENSMUSP00000120294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054234] [ENSMUST00000112895] [ENSMUST00000112902] [ENSMUST00000151683] [ENSMUST00000156726]
AlphaFold Q9ES70
Predicted Effect probably benign
Transcript: ENSMUST00000054234
AA Change: S37P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
AA Change: S37P

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112895
AA Change: S37P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
AA Change: S37P

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112902
SMART Domains Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749

DomainStartEndE-ValueType
S_TKc 34 299 3.01e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151683
AA Change: S37P

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000156726
AA Change: S37P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114376
Gene: ENSMUSG00000026749
AA Change: S37P

DomainStartEndE-ValueType
Pfam:Pkinase 45 108 6.6e-13 PFAM
Pfam:Pkinase_Tyr 45 108 1.5e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik G A 7: 126,430,065 (GRCm39) P69S probably damaging Het
Abca15 A G 7: 119,973,017 (GRCm39) R864G probably benign Het
Acbd5 T C 2: 22,959,490 (GRCm39) C15R possibly damaging Het
Ahctf1 A T 1: 179,604,955 (GRCm39) probably null Het
Ak3 T A 19: 29,000,340 (GRCm39) K190N probably damaging Het
B4galnt3 A T 6: 120,183,575 (GRCm39) probably null Het
Calcrl T C 2: 84,163,874 (GRCm39) H439R probably benign Het
Casp7 T A 19: 56,429,452 (GRCm39) D279E possibly damaging Het
Cckar A G 5: 53,857,186 (GRCm39) V337A probably benign Het
Cep85l T C 10: 53,157,651 (GRCm39) Y684C probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Homo
Commd7 T C 2: 153,474,530 (GRCm39) N23S possibly damaging Het
Cpne9 A T 6: 113,271,734 (GRCm39) I365F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dot1l C T 10: 80,622,277 (GRCm39) A831V probably benign Het
Entrep1 T C 19: 23,950,802 (GRCm39) E593G probably damaging Het
Epcam C A 17: 87,947,864 (GRCm39) N111K probably damaging Het
Etnk1 A G 6: 143,126,524 (GRCm39) Q123R probably damaging Het
Fam170a A T 18: 50,415,017 (GRCm39) E221V probably damaging Het
Fbl T C 7: 27,874,278 (GRCm39) S88P possibly damaging Het
Fbxo36 T A 1: 84,874,251 (GRCm39) Y82* probably null Het
Fer1l5 A G 1: 36,424,241 (GRCm39) K285R probably damaging Het
Foxn3 G T 12: 99,162,569 (GRCm39) T444K probably damaging Het
Gak C T 5: 108,772,895 (GRCm39) probably null Het
Gprc6a T C 10: 51,502,931 (GRCm39) I311V probably benign Het
Hrg T C 16: 22,773,288 (GRCm39) probably null Het
Htatip2 G A 7: 49,420,567 (GRCm39) V138I probably benign Het
Ighv1-4 A T 12: 114,451,142 (GRCm39) probably benign Het
Kcnq2 T C 2: 180,755,026 (GRCm39) M174V possibly damaging Het
Krt39 G T 11: 99,412,041 (GRCm39) P15Q probably damaging Het
L1td1 G A 4: 98,625,655 (GRCm39) D617N possibly damaging Het
Lgalsl T A 11: 20,779,382 (GRCm39) K88* probably null Het
Lims1 A T 10: 58,230,386 (GRCm39) K49M possibly damaging Het
Man2a1 T C 17: 65,020,600 (GRCm39) V792A probably benign Het
Mcm2 G T 6: 88,862,844 (GRCm39) D749E probably benign Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Myb A G 10: 21,021,221 (GRCm39) S403P probably benign Het
Or10d1b T C 9: 39,613,606 (GRCm39) H153R probably benign Het
Or14c46 A C 7: 85,918,968 (GRCm39) F10V probably damaging Het
Or52a33 A G 7: 103,289,209 (GRCm39) V46A probably benign Het
Or56b2j G A 7: 104,352,818 (GRCm39) V15M probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Prune2 T A 19: 17,095,480 (GRCm39) I328N probably damaging Het
Psap T A 10: 60,136,317 (GRCm39) C484S probably damaging Het
Pus1 T C 5: 110,925,580 (GRCm39) D80G probably benign Het
Rasa3 T C 8: 13,648,251 (GRCm39) T138A possibly damaging Het
Scaf1 G T 7: 44,657,047 (GRCm39) probably benign Het
Skap1 T A 11: 96,594,959 (GRCm39) Y143* probably null Het
Slc22a20 A G 19: 6,035,969 (GRCm39) L67P probably damaging Het
Slc25a17 T C 15: 81,213,265 (GRCm39) Y146C probably damaging Het
Slfn4 C T 11: 83,079,951 (GRCm39) T154I possibly damaging Het
Snai1 T A 2: 167,380,229 (GRCm39) V7D probably damaging Het
Snrnp200 T A 2: 127,052,655 (GRCm39) M84K probably benign Het
Spop G T 11: 95,362,063 (GRCm39) K31N possibly damaging Het
Surf1 T C 2: 26,804,819 (GRCm39) T145A probably benign Het
Tbkbp1 T C 11: 97,037,165 (GRCm39) E278G probably damaging Het
Thumpd2 G A 17: 81,363,266 (GRCm39) A67V probably damaging Het
Timd4 A T 11: 46,706,353 (GRCm39) M52L probably damaging Het
Trav16 A T 14: 53,981,045 (GRCm39) N78I probably damaging Het
Tspan12 T C 6: 21,799,907 (GRCm39) T147A probably damaging Het
Tulp1 A T 17: 28,577,651 (GRCm39) probably benign Het
Ubqlnl A T 7: 103,797,915 (GRCm39) N527K possibly damaging Het
Ubr4 G A 4: 139,148,559 (GRCm39) C1681Y probably damaging Het
Unc13c T C 9: 73,665,910 (GRCm39) K1037E possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r4 G A 3: 64,313,926 (GRCm39) H352Y probably damaging Het
Vmn2r61 A T 7: 41,909,616 (GRCm39) H47L probably benign Het
Vwa5a A G 9: 38,633,968 (GRCm39) E57G probably damaging Het
Zfp180 A T 7: 23,804,510 (GRCm39) R310* probably null Het
Zfp672 T C 11: 58,208,349 (GRCm39) probably benign 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
R0674:Nek6 UTSW 2 38,448,916 (GRCm39) missense possibly damaging 0.79
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
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'- CGGTGAGCCTAGAATGAGAC -3'
(R):5'- ATGGGCTAAACTTGAGTCCCC -3'

Sequencing Primer
(F):5'- GACACTTGTCACACAGTCTGC -3'
(R):5'- ACTTGAGTCCCCTAAGAGGTTAG -3'
Posted On 2018-02-27