Incidental Mutation 'R6030:Nek4'
ID480359
Institutional Source Beutler Lab
Gene Symbol Nek4
Ensembl Gene ENSMUSG00000021918
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 4
Synonyms
MMRRC Submission 044202-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.351) question?
Stock #R6030 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location30951377-30988821 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30956933 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 138 (F138S)
Ref Sequence ENSEMBL: ENSMUSP00000154090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000226833] [ENSMUST00000228328]
Predicted Effect probably damaging
Transcript: ENSMUST00000050171
AA Change: F131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: F131S

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: F6S
Predicted Effect probably damaging
Transcript: ENSMUST00000226551
AA Change: F138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226833
AA Change: F138S

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: F138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228392
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.1%
  • 20x: 86.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,255,733 W59R probably damaging Het
Abca16 A G 7: 120,533,798 N1317D probably benign Het
Abhd8 T A 8: 71,458,150 Y338F possibly damaging Het
Actg2 G T 6: 83,516,364 N297K probably damaging Het
Agap1 A G 1: 89,630,434 D148G probably damaging Het
Alox12 T C 11: 70,254,591 D52G possibly damaging Het
Ano5 T A 7: 51,574,825 S496T probably damaging Het
Arl6ip4 T C 5: 124,117,905 probably null Het
Atp4a G C 7: 30,722,516 E826Q probably damaging Het
Bbs7 T C 3: 36,602,911 D256G probably damaging Het
Bckdha T A 7: 25,631,441 D50V probably damaging Het
Cast A G 13: 74,695,937 S693P possibly damaging Het
Col6a1 T C 10: 76,709,866 Y924C unknown Het
Crkl A G 16: 17,452,740 Y88C probably damaging Het
Cse1l T C 2: 166,919,621 F32L probably benign Het
Dmxl2 C T 9: 54,393,673 V2385I probably benign Het
Dnah1 T A 14: 31,268,027 I3219F probably damaging Het
Dnah17 C T 11: 118,025,549 R4266H probably benign Het
Efcab5 A G 11: 77,121,262 L722P probably damaging Het
Emilin3 C A 2: 160,909,185 V215L probably benign Het
Esr1 A T 10: 4,746,622 N157I possibly damaging Het
Esrrg A G 1: 188,198,707 M309V probably benign Het
Fam120b G A 17: 15,401,910 R50Q probably damaging Het
Fat2 G T 11: 55,310,303 Y648* probably null Het
Gbp2b T A 3: 142,603,653 I175N probably benign Het
Gm1043 T A 5: 37,154,608 probably benign Het
Gm21060 A G 19: 61,296,973 C33R possibly damaging Het
Gm9803 C T 10: 43,524,256 A30V probably benign Het
Gpx6 C T 13: 21,312,340 S28L probably benign Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Ifi44 T C 3: 151,749,558 Q10R probably benign Het
Impa2 T C 18: 67,318,428 V264A probably benign Het
Khdc1a A T 1: 21,350,884 M98L probably benign Het
Lrrc45 T A 11: 120,720,648 L616* probably null Het
Mios A T 6: 8,215,704 H300L probably benign Het
Mllt6 A T 11: 97,677,225 T827S probably damaging Het
Mrc1 C A 2: 14,316,901 D1068E probably benign Het
Ndst3 T C 3: 123,552,519 Y702C probably damaging Het
Nek11 T A 9: 105,204,888 probably null Het
Nfatc4 T A 14: 55,832,440 Y688* probably null Het
Nlrx1 C T 9: 44,263,760 V240M probably damaging Het
Npy6r A T 18: 44,276,082 Y190F probably benign Het
Olfr338 T G 2: 36,377,544 L256R probably damaging Het
Olfr472 A G 7: 107,903,413 E232G probably benign Het
Olfr509 A C 7: 108,646,226 S117A possibly damaging Het
Olfr548-ps1 C A 7: 102,542,610 R225S probably benign Het
Olfr780 A T 10: 129,322,369 T249S probably benign Het
Olfr960 T C 9: 39,623,341 F71L probably damaging Het
Osbpl7 A C 11: 97,052,261 H113P probably benign Het
Pck1 A G 2: 173,154,857 E188G probably benign Het
Pimreg A G 11: 72,045,750 D213G probably benign Het
Pkd1l2 A G 8: 117,043,237 I1160T probably damaging Het
Ppargc1b G A 18: 61,307,934 Q622* probably null Het
Ppfia2 T A 10: 106,906,477 C1044S probably damaging Het
Ppp4r3a A G 12: 101,058,400 V280A probably damaging Het
Ptprf T C 4: 118,211,048 N1764D probably benign Het
Pygm C T 19: 6,388,812 R311C possibly damaging Het
Rab7b A G 1: 131,698,561 K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,579,906 probably benign Het
Sdccag3 T C 2: 26,386,971 D249G possibly damaging Het
Setbp1 T G 18: 78,857,711 I914L probably benign Het
Shprh A C 10: 11,151,991 Q114P probably benign Het
Slc5a9 T C 4: 111,885,528 I456V possibly damaging Het
Slc8b1 T C 5: 120,519,920 probably null Het
Spin1 T A 13: 51,139,516 Y87* probably null Het
Srebf2 T C 15: 82,177,276 probably null Het
Sufu T C 19: 46,475,539 Y397H probably damaging Het
Tgfb3 A C 12: 86,063,850 V242G probably benign Het
Tgm3 A T 2: 130,042,000 Y526F probably damaging Het
Tmem209 A G 6: 30,482,968 L508P probably damaging Het
Tmem67 T C 4: 12,063,799 D454G probably benign Het
Ttn T C 2: 76,816,599 E3280G possibly damaging Het
Tusc3 G C 8: 39,071,406 G200R probably damaging Het
Umps A G 16: 33,962,138 V138A probably benign Het
Wdr66 C T 5: 123,274,204 T532M probably damaging Het
Ypel1 A G 16: 17,084,513 probably null Het
Zdhhc19 T A 16: 32,499,042 L63Q 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
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
R6171:Nek4 UTSW 14 30970347 missense probably benign 0.01
R7145:Nek4 UTSW 14 30982348 missense probably damaging 0.96
Predicted Primers
Posted On2017-06-26