Incidental Mutation 'R0436:Nek4'
ID 39025
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 038637-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R0436 (G1)
Quality Score 223
Status Validated
Chromosome 14
Chromosomal Location 30951377-30988821 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30970472 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 293 (L293F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000228328]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050171
AA Change: L418F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: L418F

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 damaging
Transcript: ENSMUST00000226146
AA Change: L293F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000226551
AA Change: L425F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000228328
AA Change: L425F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228392
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 100% (66/66)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,543,445 probably benign Het
Abcb10 C T 8: 123,971,001 G195S probably benign Het
Adrb2 A G 18: 62,179,553 V67A possibly damaging Het
Alx4 A T 2: 93,668,357 K145* probably null Het
Arl8a G A 1: 135,146,980 M1I probably null Het
B230118H07Rik T C 2: 101,610,519 probably benign Het
Btbd16 G A 7: 130,786,053 S134N probably benign Het
Ccdc136 T A 6: 29,414,934 L474Q probably damaging Het
Cebpz A G 17: 78,935,650 Y192H probably benign Het
Cep95 A G 11: 106,818,685 Q109R probably null Het
Cfap54 G T 10: 93,038,975 Q520K possibly damaging Het
Cog2 C T 8: 124,548,514 probably benign Het
Cul1 A G 6: 47,523,773 N702S probably benign Het
D430041D05Rik G C 2: 104,167,950 P1836R probably damaging Het
Dmxl2 T C 9: 54,383,750 D2472G probably damaging Het
Ect2 A G 3: 27,150,095 F22L probably benign Het
Ehd4 A T 2: 120,102,341 D201E probably damaging Het
Eif4ebp3 A G 18: 36,664,301 probably null Het
Exd2 T C 12: 80,490,770 probably benign Het
Gtf2a1 A C 12: 91,568,273 probably null Het
H2-DMb1 A G 17: 34,159,656 Y256C probably damaging Het
Haus6 T C 4: 86,585,807 R527G probably benign Het
Helb C T 10: 120,094,212 probably benign Het
Hhatl C T 9: 121,788,762 A254T probably benign Het
Hk1 A T 10: 62,299,275 probably benign Het
Hmcn2 A G 2: 31,405,612 K2611R probably damaging Het
Hrc A G 7: 45,336,133 H236R possibly damaging Het
Hunk T A 16: 90,464,154 Y178N probably damaging Het
Jakmip2 G A 18: 43,558,169 Q616* probably null Het
Kcnh4 C T 11: 100,746,932 G633E probably benign Het
Msantd4 C T 9: 4,385,180 R302C probably damaging Het
Nae1 T C 8: 104,523,236 probably benign Het
Odf2l C T 3: 145,126,116 T44I possibly damaging Het
Olfr601 A G 7: 103,358,741 V151A possibly damaging Het
Otog G A 7: 46,265,936 probably benign Het
Ppp1r21 C T 17: 88,565,689 T425I possibly damaging Het
Prrc2b A G 2: 32,230,660 E2204G probably damaging Het
Prrc2c A C 1: 162,705,314 probably benign Het
Prrxl1 T C 14: 32,608,083 F81S probably damaging Het
Ptgs2 T C 1: 150,104,277 probably benign Het
Slc12a8 T A 16: 33,551,085 V197E probably damaging Het
Syne3 A G 12: 104,946,924 W593R possibly damaging Het
Tmem63a A T 1: 180,972,733 T696S probably benign Het
Tnks2 A G 19: 36,849,358 D165G possibly damaging Het
Trim43a T C 9: 88,588,187 W349R probably damaging Het
Unc45b T C 11: 82,929,567 probably benign Het
Vmn1r4 T A 6: 56,956,962 N150K probably damaging Het
Wdfy4 C A 14: 33,083,812 probably benign Het
Wdr77 T A 3: 105,960,026 D63E probably damaging Het
Zan T C 5: 137,464,902 T672A unknown Het
Zdhhc17 A T 10: 110,981,990 probably null 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
IGL02606:Nek4 APN 14 30963959 missense probably benign 0.01
IGL03261:Nek4 APN 14 30975290 missense probably benign 0.05
R0266:Nek4 UTSW 14 30957296 missense probably damaging 1.00
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 splice site 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
R8098:Nek4 UTSW 14 30963951 missense probably benign 0.03
R8300:Nek4 UTSW 14 30970395 missense
R8397:Nek4 UTSW 14 30970548 missense possibly damaging 0.77
R8481:Nek4 UTSW 14 30964034 missense probably damaging 0.97
R8962:Nek4 UTSW 14 30953958 missense probably damaging 1.00
R8988:Nek4 UTSW 14 30963967 missense
R9003:Nek4 UTSW 14 30982514 missense probably benign 0.09
R9531:Nek4 UTSW 14 30970350 missense probably benign 0.01
R9608:Nek4 UTSW 14 30953947 missense probably damaging 0.99
R9748:Nek4 UTSW 14 30987157 missense possibly damaging 0.63
R9777:Nek4 UTSW 14 30984444 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TCTTGAAGGCCACACTGGCAAAC -3'
(R):5'- ACACCTCTGCAAACGGATTTCCTAC -3'

Sequencing Primer
(F):5'- GTCATGTGCCACAATCAGTAG -3'
(R):5'- GCAAACGGATTTCCTACGGTTC -3'
Posted On 2013-05-23