Incidental Mutation 'IGL02606:Nek4'
ID300270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek4
Ensembl Gene ENSMUSG00000021918
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL02606
Quality Score
Status
Chromosome14
Chromosomal Location30951377-30988821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30963959 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 283 (N283S)
Ref Sequence ENSEMBL: ENSMUSP00000154090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000226833] [ENSMUST00000228328]
Predicted Effect probably benign
Transcript: ENSMUST00000050171
AA Change: N276S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: N276S

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 unknown
Transcript: ENSMUST00000226146
AA Change: N151S
Predicted Effect probably benign
Transcript: ENSMUST00000226551
AA Change: N283S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000226833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227199
Predicted Effect probably benign
Transcript: ENSMUST00000228328
AA Change: N283S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228392
Coding Region Coverage
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,242,781 N74I probably benign Het
Abr T C 11: 76,479,164 K75R probably damaging Het
Adcy10 A C 1: 165,519,518 D368A possibly damaging Het
Alas1 A G 9: 106,241,110 probably benign Het
Alms1 T A 6: 85,599,967 D168E probably benign Het
Ankar C T 1: 72,690,285 A82T possibly damaging Het
Atp2c2 C T 8: 119,730,274 T205I probably benign Het
Atp9a A T 2: 168,652,668 L639Q probably damaging Het
Btf3l4 T C 4: 108,818,214 D134G probably benign Het
Cacna1s T C 1: 136,079,519 C425R probably damaging Het
Ccdc105 A G 10: 78,748,466 Y372H probably benign Het
Cct6b G T 11: 82,736,445 T322N probably damaging Het
Col19a1 G A 1: 24,534,116 R192* probably null Het
Cyp8b1 A T 9: 121,915,735 F177Y probably damaging Het
Dnajc11 T A 4: 151,979,484 N474K probably benign Het
Dusp16 T C 6: 134,761,036 E13G probably damaging Het
Ephx2 T C 14: 66,086,292 N397S probably damaging Het
Fancm T C 12: 65,076,139 V145A possibly damaging Het
Fiz1 A G 7: 5,009,159 L120P possibly damaging Het
Galnt6 C T 15: 100,714,219 V181M probably damaging Het
Ginm1 A G 10: 7,770,399 V279A probably damaging Het
Gja10 T G 4: 32,601,509 I292L probably benign Het
Gnb3 T C 6: 124,837,415 S136G probably benign Het
Gramd1a A T 7: 31,134,515 V495E probably damaging Het
Il1rn G T 2: 24,345,450 probably benign Het
Itpr3 A G 17: 27,114,512 probably benign Het
Kctd1 A G 18: 15,062,880 S229P possibly damaging Het
Kdm4a T C 4: 118,160,289 T527A probably benign Het
Kif14 C T 1: 136,496,593 A982V probably damaging Het
Klf6 A G 13: 5,866,735 K293R probably damaging Het
Letmd1 A G 15: 100,475,091 D92G probably damaging Het
Lmod1 G A 1: 135,364,480 V358M probably benign Het
Ndufs1 A T 1: 63,159,852 D295E probably damaging Het
Nhsl1 A G 10: 18,511,637 T220A probably damaging Het
Nucks1 T A 1: 131,924,625 D71E probably damaging Het
Olfr1537 C A 9: 39,238,194 V77F probably damaging Het
Olfr732 T C 14: 50,282,073 Y60C probably damaging Het
Pkhd1l1 A G 15: 44,589,456 T3926A probably benign Het
Pptc7 T A 5: 122,313,588 probably benign Het
Prdm11 A G 2: 92,975,603 V334A probably benign Het
Ptdss2 C A 7: 141,152,998 C231* probably null Het
R3hdm1 C T 1: 128,190,719 P570S probably benign Het
Rlbp1 T C 7: 79,377,289 T208A possibly damaging Het
Rnaseh2a T G 8: 84,960,094 D142A probably damaging Het
Rufy4 C T 1: 74,133,350 probably benign Het
Tmem56 G T 3: 121,228,364 D128E possibly damaging Het
Ttn A G 2: 76,816,221 I11081T possibly damaging Het
Ubap2l A T 3: 90,038,428 S173R probably damaging Het
Vmn1r80 A G 7: 12,193,032 N23S probably damaging Het
Vwce C A 19: 10,655,348 probably benign Het
Other mutations in Nek4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Nek4 APN 14 30970262 missense probably benign 0.00
IGL01746:Nek4 APN 14 30977584 splice site probably null
IGL02403:Nek4 APN 14 30964051 nonsense probably null
IGL03261:Nek4 APN 14 30975290 missense probably benign 0.05
R0266:Nek4 UTSW 14 30957296 missense probably damaging 1.00
R0436:Nek4 UTSW 14 30970472 missense probably damaging 0.96
R0520:Nek4 UTSW 14 30959306 splice site probably benign
R0523:Nek4 UTSW 14 30980038 missense probably benign 0.18
R0849:Nek4 UTSW 14 30957296 missense probably damaging 1.00
R1167:Nek4 UTSW 14 30974345 missense possibly damaging 0.68
R1465:Nek4 UTSW 14 30956887 missense probably damaging 1.00
R1465:Nek4 UTSW 14 30956887 missense probably damaging 1.00
R1484:Nek4 UTSW 14 30982333 missense possibly damaging 0.56
R1563:Nek4 UTSW 14 30982451 missense probably damaging 1.00
R1616:Nek4 UTSW 14 30987137 missense probably damaging 0.98
R1670:Nek4 UTSW 14 30982427 missense probably damaging 1.00
R1991:Nek4 UTSW 14 30956953 missense probably damaging 0.98
R2045:Nek4 UTSW 14 30953923 missense probably damaging 1.00
R2157:Nek4 UTSW 14 30979968 intron probably null
R2925:Nek4 UTSW 14 30951710 missense probably benign 0.29
R4342:Nek4 UTSW 14 30953906 missense probably damaging 1.00
R5964:Nek4 UTSW 14 30957079 critical splice donor site probably null
R6030:Nek4 UTSW 14 30956933 missense probably damaging 1.00
R6030:Nek4 UTSW 14 30956933 missense probably damaging 1.00
R6171:Nek4 UTSW 14 30970347 missense probably benign 0.01
R7145:Nek4 UTSW 14 30982348 missense probably damaging 0.96
R7286:Nek4 UTSW 14 30957292 missense probably damaging 1.00
Posted On2015-04-16