Incidental Mutation 'R0835:Nek6'
ID 77783
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 039014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R0835 (G1)
Quality Score 216
Status Not validated
Chromosome 2
Chromosomal Location 38401655-38484618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38459643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 162 (I162N)
Ref Sequence ENSEMBL: ENSMUSP00000108523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054234] [ENSMUST00000112895] [ENSMUST00000112902]
AlphaFold Q9ES70
Predicted Effect probably benign
Transcript: ENSMUST00000054234
AA Change: I173N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000049723
Gene: ENSMUSG00000026749
AA Change: I173N

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112895
AA Change: I173N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108516
Gene: ENSMUSG00000026749
AA Change: I173N

DomainStartEndE-ValueType
S_TKc 45 310 3.01e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112902
AA Change: I162N

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108523
Gene: ENSMUSG00000026749
AA Change: I162N

DomainStartEndE-ValueType
S_TKc 34 299 3.01e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203964
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.2%
  • 20x: 90.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G T 6: 146,855,036 (GRCm39) probably benign Het
Abca16 A G 7: 120,065,007 (GRCm39) T555A probably benign Het
Abca4 A T 3: 121,919,862 (GRCm39) D1048V probably damaging Het
Abcf2 G T 5: 24,779,251 (GRCm39) T99N probably damaging Het
Acan A T 7: 78,763,980 (GRCm39) S2119C probably damaging Het
Adgre4 G A 17: 56,106,637 (GRCm39) C292Y probably damaging Het
Alk A G 17: 72,176,837 (GRCm39) F1489S probably damaging Het
Ampd2 A G 3: 107,983,818 (GRCm39) V573A possibly damaging Het
Aoc1 T C 6: 48,882,448 (GRCm39) F130S probably damaging Het
Bbs2 A T 8: 94,801,887 (GRCm39) I554N probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cbfa2t3 T C 8: 123,374,517 (GRCm39) H76R probably benign Het
Cdc14a G T 3: 116,122,171 (GRCm39) N216K probably benign Het
Cep126 T C 9: 8,130,224 (GRCm39) Y69C probably damaging Het
Cep135 A T 5: 76,763,553 (GRCm39) R514S probably benign Het
Cfi A T 3: 129,662,191 (GRCm39) Y390F probably damaging Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Clptm1 A G 7: 19,369,599 (GRCm39) V437A possibly damaging Het
Coro2b T C 9: 62,333,119 (GRCm39) N422S possibly damaging Het
Coro7 T C 16: 4,450,118 (GRCm39) E577G probably benign Het
Crh G A 3: 19,748,528 (GRCm39) P38L probably benign Het
Ctif T A 18: 75,568,407 (GRCm39) D577V probably damaging Het
Deup1 T A 9: 15,511,047 (GRCm39) Q244L probably damaging Het
Dhx16 A G 17: 36,192,581 (GRCm39) E171G probably damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dync1i2 C T 2: 71,081,316 (GRCm39) L508F probably damaging Het
Dync2h1 T A 9: 7,116,642 (GRCm39) probably null Het
E2f4 C T 8: 106,027,140 (GRCm39) Q235* probably null Het
Eif2b3 A G 4: 116,916,002 (GRCm39) H203R probably damaging Het
Epha5 A T 5: 84,534,101 (GRCm39) W77R probably damaging Het
Gpx6 C T 13: 21,501,238 (GRCm39) P109S probably damaging Het
Gsdmc4 A T 15: 63,765,649 (GRCm39) V300E probably damaging Het
Gspt1 A C 16: 11,056,802 (GRCm39) S198A probably benign Het
Ift70a2 T C 2: 75,808,494 (GRCm39) N6S probably benign Het
Itpk1 C T 12: 102,641,707 (GRCm39) V39M probably damaging Het
Kremen2 G T 17: 23,961,811 (GRCm39) P232Q probably damaging Het
Lamtor4 C A 5: 138,257,320 (GRCm39) T74K probably benign Het
Mbtd1 T A 11: 93,822,665 (GRCm39) F492I probably benign Het
Mroh1 G T 15: 76,336,083 (GRCm39) V1486F probably damaging Het
Myg1 G A 15: 102,240,537 (GRCm39) V76M probably damaging Het
Myo16 G T 8: 10,322,766 (GRCm39) Q65H probably damaging Het
Ncapg A G 5: 45,838,790 (GRCm39) E487G probably damaging Het
Ncoa5 T C 2: 164,844,714 (GRCm39) E332G probably damaging Het
Nwd2 C A 5: 63,957,473 (GRCm39) R268S probably damaging Het
Or4c11 T C 2: 88,695,345 (GRCm39) V132A probably benign Het
Or9a7 T C 6: 40,521,272 (GRCm39) I214V probably benign Het
Palm3 T G 8: 84,754,776 (GRCm39) S141A probably benign Het
Pbrm1 T C 14: 30,789,536 (GRCm39) F728L probably damaging Het
Phf3 A G 1: 30,869,632 (GRCm39) V472A probably benign Het
Plekha5 T A 6: 140,514,576 (GRCm39) L35* probably null Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp6r2 G A 15: 89,152,785 (GRCm39) E309K possibly damaging Het
Ptpn6 T A 6: 124,704,499 (GRCm39) probably null Het
Rasgrf1 T C 9: 89,882,824 (GRCm39) V882A probably benign Het
Ryr3 T G 2: 112,480,483 (GRCm39) E4335D probably benign Het
Slc12a5 T A 2: 164,835,958 (GRCm39) I892N probably damaging Het
Slc22a2 G A 17: 12,831,318 (GRCm39) M369I probably benign Het
Sox10 A T 15: 79,040,641 (GRCm39) Y300N probably damaging Het
Speg T C 1: 75,352,318 (GRCm39) F79L probably benign Het
Sult1b1 T A 5: 87,665,311 (GRCm39) I208L probably benign Het
Syt9 A G 7: 107,105,737 (GRCm39) N460S probably benign Het
Tecpr1 T A 5: 144,149,410 (GRCm39) N339I possibly damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Ttn T C 2: 76,725,105 (GRCm39) probably benign Het
Upk3bl G T 5: 136,086,185 (GRCm39) R40S probably benign Het
Usp28 T C 9: 48,912,824 (GRCm39) I25T probably damaging Het
Vmn2r27 A G 6: 124,177,583 (GRCm39) Y474H probably damaging Het
Vps13a A T 19: 16,712,246 (GRCm39) probably null Het
Wdr36 A T 18: 32,982,135 (GRCm39) N371I possibly damaging Het
Wnt7b A G 15: 85,421,978 (GRCm39) F228S probably damaging Het
Xirp2 T C 2: 67,338,254 (GRCm39) I165T possibly damaging Het
Zan T G 5: 137,406,659 (GRCm39) probably benign Het
Zfp760 A G 17: 21,942,559 (GRCm39) D578G possibly damaging Het
Zfyve19 T A 2: 119,041,266 (GRCm39) S61T probably benign Het
Zfyve9 T C 4: 108,575,866 (GRCm39) D405G 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
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
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'- GTTGCTTTCACCTGTGTGAGACCC -3'
(R):5'- AAGCCAGGCAGATGCAGTCCATTC -3'

Sequencing Primer
(F):5'- CAGTGCAAAGCTTACTGACTGTC -3'
(R):5'- GCAGTCCATTCTATATGACAGGGTC -3'
Posted On 2013-10-16