Incidental Mutation 'R4342:Nek4'
ID 324198
Institutional Source Beutler Lab
Gene Symbol Nek4
Ensembl Gene ENSMUSG00000021918
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 4
Synonyms
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30951377-30988821 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30953906 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 66 (V66A)
Ref Sequence ENSEMBL: ENSMUSP00000154090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000226833] [ENSMUST00000228328]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050171
AA Change: V59A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: V59A

DomainStartEndE-ValueType
S_TKc 6 261 6.93e-91 SMART
low complexity region 429 439 N/A INTRINSIC
low complexity region 627 647 N/A INTRINSIC
low complexity region 751 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226146
Predicted Effect probably damaging
Transcript: ENSMUST00000226551
AA Change: V66A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226833
AA Change: V66A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227602
Predicted Effect probably damaging
Transcript: ENSMUST00000228328
AA Change: V66A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228392
Meta Mutation Damage Score 0.6434 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
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 serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,516,495 (GRCm38) C488R probably benign Het
Adamts19 A T 18: 58,942,500 (GRCm38) H489L probably damaging Het
Ahnak T C 19: 9,012,083 (GRCm38) V3577A possibly damaging Het
Arhgap44 G A 11: 65,012,061 (GRCm38) R401* probably null Het
Cbx3-ps2 T C 13: 65,559,688 (GRCm38) noncoding transcript Het
Ccdc174 T A 6: 91,885,356 (GRCm38) L86* probably null Het
Cd38 A C 5: 43,869,089 (GRCm38) I72L probably benign Het
Cers4 T C 8: 4,521,223 (GRCm38) L264P probably damaging Het
Cldn23 A G 8: 35,825,498 (GRCm38) S279P probably benign Het
Cth T A 3: 157,924,976 (GRCm38) T19S probably damaging Het
Dnajc22 T A 15: 99,104,464 (GRCm38) L330* probably null Het
Epas1 G A 17: 86,823,800 (GRCm38) C336Y probably damaging Het
Evi5l A C 8: 4,183,492 (GRCm38) probably benign Het
Fam71b A G 11: 46,407,216 (GRCm38) D449G possibly damaging Het
Fbxl2 A T 9: 113,985,306 (GRCm38) H272Q probably benign Het
Fgd3 C T 13: 49,273,709 (GRCm38) probably null Het
Fhdc1 C A 3: 84,444,826 (GRCm38) V1031F probably benign Het
Fscn1 T C 5: 142,972,021 (GRCm38) Y308H probably damaging Het
Gm5878 G A 6: 85,125,651 (GRCm38) R31* probably null Het
Gm996 A G 2: 25,579,108 (GRCm38) Y264H possibly damaging Het
Gpatch2l T C 12: 86,260,679 (GRCm38) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm38) M1385K probably benign Het
Grin2a A G 16: 9,653,589 (GRCm38) I605T possibly damaging Het
Hoxc11 C T 15: 102,954,671 (GRCm38) S49F probably damaging Het
Igf2r C T 17: 12,709,511 (GRCm38) E982K possibly damaging Het
Ighv10-3 A T 12: 114,523,504 (GRCm38) M99K possibly damaging Het
Itgb4 A T 11: 115,988,729 (GRCm38) T614S probably benign Het
Kcnv1 G A 15: 45,114,444 (GRCm38) T66M probably damaging Het
Mast4 A G 13: 102,774,248 (GRCm38) V461A probably damaging Het
Mcts2 G A 2: 152,687,664 (GRCm38) V132M probably damaging Het
Mical3 C A 6: 120,934,838 (GRCm38) E1083* probably null Het
Nbeal2 A G 9: 110,631,793 (GRCm38) probably benign Het
Nfasc A G 1: 132,631,705 (GRCm38) F229S probably damaging Het
Nhsl1 T C 10: 18,526,689 (GRCm38) F1221S probably damaging Het
Nr1d1 T G 11: 98,771,814 (GRCm38) K118Q probably damaging Het
Ntm T C 9: 29,109,431 (GRCm38) E164G probably damaging Het
Olfr576 A G 7: 102,966,024 (GRCm38) N308S probably benign Het
Parp1 G T 1: 180,587,329 (GRCm38) A411S probably benign Het
Pds5b A G 5: 150,800,854 (GRCm38) T1301A probably benign Het
Pkhd1 A G 1: 20,058,617 (GRCm38) V3954A probably benign Het
Pkp4 A T 2: 59,350,608 (GRCm38) K739I probably damaging Het
Pla2g4e T C 2: 120,186,446 (GRCm38) probably benign Het
Plod3 G C 5: 136,988,146 (GRCm38) A50P probably benign Het
Ralgds T C 2: 28,552,095 (GRCm38) L96P probably damaging Het
Rbm6 A T 9: 107,847,247 (GRCm38) probably benign Het
Scp2d1 T C 2: 144,824,167 (GRCm38) L142P probably damaging Het
Setd5 AT ATT 6: 113,111,320 (GRCm38) probably benign Het
Sgf29 G A 7: 126,671,777 (GRCm38) C143Y probably damaging Het
Slc22a12 A G 19: 6,541,099 (GRCm38) I156T probably benign Het
Stambpl1 A G 19: 34,234,046 (GRCm38) Q169R probably benign Het
Tex2 T C 11: 106,567,006 (GRCm38) probably benign Het
Trip11 A T 12: 101,884,316 (GRCm38) I878N probably damaging Het
Ttf1 C T 2: 29,065,476 (GRCm38) S284L probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,139,723 (GRCm38) V195E probably damaging Het
Vmn1r14 T A 6: 57,233,823 (GRCm38) Y85N probably benign Het
Wdyhv1 T C 15: 58,152,714 (GRCm38) S120P probably benign Het
Zfp131 C T 13: 119,776,018 (GRCm38) R268H probably damaging Het
Other mutations in Nek4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Nek4 APN 14 30,970,262 (GRCm38) missense probably benign 0.00
IGL01746:Nek4 APN 14 30,977,584 (GRCm38) splice site probably null
IGL02403:Nek4 APN 14 30,964,051 (GRCm38) nonsense probably null
IGL02606:Nek4 APN 14 30,963,959 (GRCm38) missense probably benign 0.01
IGL03261:Nek4 APN 14 30,975,290 (GRCm38) missense probably benign 0.05
R0266:Nek4 UTSW 14 30,957,296 (GRCm38) missense probably damaging 1.00
R0436:Nek4 UTSW 14 30,970,472 (GRCm38) missense probably damaging 0.96
R0520:Nek4 UTSW 14 30,959,306 (GRCm38) splice site probably benign
R0523:Nek4 UTSW 14 30,980,038 (GRCm38) missense probably benign 0.18
R0849:Nek4 UTSW 14 30,957,296 (GRCm38) missense probably damaging 1.00
R1167:Nek4 UTSW 14 30,974,345 (GRCm38) missense possibly damaging 0.68
R1465:Nek4 UTSW 14 30,956,887 (GRCm38) missense probably damaging 1.00
R1465:Nek4 UTSW 14 30,956,887 (GRCm38) missense probably damaging 1.00
R1484:Nek4 UTSW 14 30,982,333 (GRCm38) missense possibly damaging 0.56
R1563:Nek4 UTSW 14 30,982,451 (GRCm38) missense probably damaging 1.00
R1616:Nek4 UTSW 14 30,987,137 (GRCm38) missense probably damaging 0.98
R1670:Nek4 UTSW 14 30,982,427 (GRCm38) missense probably damaging 1.00
R1991:Nek4 UTSW 14 30,956,953 (GRCm38) missense probably damaging 0.98
R2045:Nek4 UTSW 14 30,953,923 (GRCm38) missense probably damaging 1.00
R2157:Nek4 UTSW 14 30,979,968 (GRCm38) splice site probably null
R2925:Nek4 UTSW 14 30,951,710 (GRCm38) missense probably benign 0.29
R5964:Nek4 UTSW 14 30,957,079 (GRCm38) critical splice donor site probably null
R6030:Nek4 UTSW 14 30,956,933 (GRCm38) missense probably damaging 1.00
R6030:Nek4 UTSW 14 30,956,933 (GRCm38) missense probably damaging 1.00
R6171:Nek4 UTSW 14 30,970,347 (GRCm38) missense probably benign 0.01
R7145:Nek4 UTSW 14 30,982,348 (GRCm38) missense probably damaging 0.96
R7286:Nek4 UTSW 14 30,957,292 (GRCm38) missense probably damaging 1.00
R8098:Nek4 UTSW 14 30,963,951 (GRCm38) missense probably benign 0.03
R8300:Nek4 UTSW 14 30,970,395 (GRCm38) missense
R8397:Nek4 UTSW 14 30,970,548 (GRCm38) missense possibly damaging 0.77
R8481:Nek4 UTSW 14 30,964,034 (GRCm38) missense probably damaging 0.97
R8962:Nek4 UTSW 14 30,953,958 (GRCm38) missense probably damaging 1.00
R8988:Nek4 UTSW 14 30,963,967 (GRCm38) missense
R9003:Nek4 UTSW 14 30,982,514 (GRCm38) missense probably benign 0.09
R9531:Nek4 UTSW 14 30,970,350 (GRCm38) missense probably benign 0.01
R9608:Nek4 UTSW 14 30,953,947 (GRCm38) missense probably damaging 0.99
R9748:Nek4 UTSW 14 30,987,157 (GRCm38) missense possibly damaging 0.63
R9777:Nek4 UTSW 14 30,984,444 (GRCm38) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- ACGCTACTTCTGAACCGACAG -3'
(R):5'- TGGTGAAATCCTTCCCAGTCTATG -3'

Sequencing Primer
(F):5'- GAACCGACAGACTGTTTTCTTAC -3'
(R):5'- CAGTAGTTGTGAATGTGACAGTACC -3'
Posted On 2015-06-24