Incidental Mutation 'R8021:Nek3'
ID 617367
Institutional Source Beutler Lab
Gene Symbol Nek3
Ensembl Gene ENSMUSG00000031478
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 3
MMRRC Submission 067460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8021 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22128283-22166435 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22157190 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 139 (V139M)
Ref Sequence ENSEMBL: ENSMUSP00000033865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000178324]
AlphaFold Q9R0A5
Predicted Effect probably damaging
Transcript: ENSMUST00000033865
AA Change: V139M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: V139M

S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 444 8e-49 BLAST
low complexity region 471 485 N/A INTRINSIC
low complexity region 495 506 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110730
AA Change: V139M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: V139M

S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 446 1e-48 BLAST
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 508 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178324
AA Change: V139M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: V139M

S_TKc 4 259 1.11e-89 SMART
Blast:S_TKc 267 446 1e-48 BLAST
low complexity region 473 487 N/A INTRINSIC
low complexity region 497 508 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik A G 11: 107,025,927 (GRCm38) I12V unknown Het
9130011E15Rik C T 19: 45,956,741 (GRCm38) probably null Het
A630010A05Rik C T 16: 14,589,246 (GRCm38) T13I Het
Acsm5 A G 7: 119,542,393 (GRCm38) E537G possibly damaging Het
Adam25 C A 8: 40,754,759 (GRCm38) A354E probably damaging Het
Adamts3 T C 5: 89,683,184 (GRCm38) K1004E possibly damaging Het
Ap3d1 C A 10: 80,714,301 (GRCm38) V699L probably benign Het
Arel1 T G 12: 84,934,958 (GRCm38) H216P possibly damaging Het
Armc12 T A 17: 28,530,905 (GRCm38) F8I probably benign Het
Ascc3 T A 10: 50,731,648 (GRCm38) M1416K probably benign Het
Catsperb A C 12: 101,588,063 (GRCm38) N672T probably benign Het
Ccdc30 T C 4: 119,352,679 (GRCm38) H291R probably benign Het
Cd33 A G 7: 43,528,838 (GRCm38) V371A unknown Het
Cpt1b A T 15: 89,421,426 (GRCm38) M362K probably benign Het
Dusp5 T A 19: 53,529,498 (GRCm38) S61T probably benign Het
Eogt T G 6: 97,134,330 (GRCm38) D190A probably damaging Het
Fat3 T A 9: 15,999,109 (GRCm38) I1866F probably damaging Het
Fer1l4 T A 2: 156,022,591 (GRCm38) I1668F probably damaging Het
Foxn3 A T 12: 99,388,902 (GRCm38) M1K probably null Het
Frs3 T A 17: 47,703,114 (GRCm38) V244E probably damaging Het
Gm8765 A G 13: 50,701,094 (GRCm38) N256S possibly damaging Het
Grik1 C T 16: 87,914,222 (GRCm38) V832I Het
Gtf2ird2 T A 5: 134,203,334 (GRCm38) V242E probably benign Het
Gtpbp2 C T 17: 46,164,269 (GRCm38) R97C possibly damaging Het
Habp2 T A 19: 56,314,053 (GRCm38) V263E probably benign Het
Iars2 T A 1: 185,322,457 (GRCm38) I337L probably benign Het
Ifi204 T C 1: 173,759,353 (GRCm38) probably benign Het
Itih2 T C 2: 10,105,652 (GRCm38) T543A probably benign Het
Kdm2b A G 5: 122,932,919 (GRCm38) S372P probably damaging Het
Kit T A 5: 75,615,491 (GRCm38) V311E possibly damaging Het
Kmt2c C G 5: 25,287,119 (GRCm38) V4230L possibly damaging Het
Lao1 T C 4: 118,968,477 (GRCm38) I498T probably damaging Het
Lrp1 G T 10: 127,548,346 (GRCm38) D3641E possibly damaging Het
Mapk8ip1 A T 2: 92,386,415 (GRCm38) S477T possibly damaging Het
Mast3 C T 8: 70,788,252 (GRCm38) G218S probably benign Het
Mical1 T C 10: 41,482,724 (GRCm38) V546A probably damaging Het
Nck2 T C 1: 43,554,260 (GRCm38) V209A probably benign Het
Ndufs4 A G 13: 114,307,815 (GRCm38) probably null Het
Olfr1417 T C 19: 11,828,892 (GRCm38) I45V probably benign Het
Olfr863-ps1 A C 9: 19,942,079 (GRCm38) Y120* probably null Het
Olfr877 T A 9: 37,855,296 (GRCm38) H159Q probably damaging Het
Olfr994 A T 2: 85,430,652 (GRCm38) M59K probably damaging Het
Otog A T 7: 46,267,342 (GRCm38) N901I probably damaging Het
Pclo A C 5: 14,539,784 (GRCm38) Q699H unknown Het
Pcnx C T 12: 81,918,819 (GRCm38) R59* probably null Het
Pde12 A T 14: 26,665,699 (GRCm38) Y551* probably null Het
Pigg A G 5: 108,319,939 (GRCm38) D268G probably damaging Het
Ppp1r21 A G 17: 88,549,507 (GRCm38) D130G probably benign Het
Psip1 T C 4: 83,459,955 (GRCm38) T435A possibly damaging Het
Rad54l2 T C 9: 106,719,641 (GRCm38) S189G probably benign Het
Rgs14 T C 13: 55,383,756 (GRCm38) C498R probably damaging Het
Ripply3 C A 16: 94,328,510 (GRCm38) A5E probably benign Het
Rps6ka4 T C 19: 6,830,409 (GRCm38) D676G probably benign Het
Rsbn1 T C 3: 103,928,582 (GRCm38) L312S possibly damaging Het
Secisbp2 T A 13: 51,665,628 (GRCm38) *415R probably null Het
Sephs1 T A 2: 4,906,623 (GRCm38) F336Y probably benign Het
Setdb2 A T 14: 59,423,384 (GRCm38) Y103* probably null Het
Slit2 T A 5: 48,302,492 (GRCm38) C1371* probably null Het
Stab2 C T 10: 86,905,539 (GRCm38) A1239T possibly damaging Het
Taf4b T A 18: 14,804,524 (GRCm38) V218E probably damaging Het
Tars2 T C 3: 95,747,514 (GRCm38) N393S probably benign Het
Tbc1d30 A G 10: 121,267,543 (GRCm38) M528T probably benign Het
Tchp A G 5: 114,718,417 (GRCm38) E363G probably damaging Het
Tec T A 5: 72,757,469 (GRCm38) N568I probably benign Het
Ticam1 A G 17: 56,270,089 (GRCm38) S669P unknown Het
Tnk1 A G 11: 69,854,984 (GRCm38) S372P probably benign Het
Tnpo2 G A 8: 85,055,206 (GRCm38) A847T probably damaging Het
Tsc1 A T 2: 28,686,889 (GRCm38) I1068F possibly damaging Het
Ttc14 T A 3: 33,809,121 (GRCm38) Y559* probably null Het
Ttc41 C A 10: 86,733,714 (GRCm38) T652N probably benign Het
Tut1 T A 19: 8,955,509 (GRCm38) S69T probably benign Het
Uck1 T C 2: 32,259,917 (GRCm38) S40G probably benign Het
Vmn2r76 G A 7: 86,225,750 (GRCm38) T673I probably damaging Het
Vps13d G T 4: 145,148,675 (GRCm38) P1760H Het
Zbp1 T C 2: 173,209,210 (GRCm38) N289S possibly damaging Het
Zc3hav1l C A 6: 38,297,947 (GRCm38) probably benign Het
Zzef1 A T 11: 72,823,416 (GRCm38) D244V probably damaging Het
Other mutations in Nek3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Nek3 APN 8 22,158,706 (GRCm38) missense probably damaging 1.00
IGL01561:Nek3 APN 8 22,129,456 (GRCm38) missense probably damaging 0.97
IGL02799:Nek3 APN 8 22,158,719 (GRCm38) splice site probably benign
IGL02826:Nek3 APN 8 22,160,368 (GRCm38) critical splice donor site probably null
R0001:Nek3 UTSW 8 22,158,612 (GRCm38) splice site probably benign
R0390:Nek3 UTSW 8 22,128,729 (GRCm38) unclassified probably benign
R1367:Nek3 UTSW 8 22,160,361 (GRCm38) splice site probably benign
R1565:Nek3 UTSW 8 22,132,201 (GRCm38) critical splice acceptor site probably null
R1758:Nek3 UTSW 8 22,160,262 (GRCm38) missense probably damaging 1.00
R1924:Nek3 UTSW 8 22,157,031 (GRCm38) missense probably damaging 1.00
R3905:Nek3 UTSW 8 22,133,091 (GRCm38) missense probably benign 0.01
R4078:Nek3 UTSW 8 22,132,137 (GRCm38) missense probably damaging 1.00
R4089:Nek3 UTSW 8 22,149,913 (GRCm38) missense probably damaging 1.00
R4621:Nek3 UTSW 8 22,157,039 (GRCm38) missense probably damaging 1.00
R5207:Nek3 UTSW 8 22,132,227 (GRCm38) intron probably benign
R5432:Nek3 UTSW 8 22,148,732 (GRCm38) splice site probably null
R5790:Nek3 UTSW 8 22,131,298 (GRCm38) missense probably damaging 1.00
R5790:Nek3 UTSW 8 22,131,297 (GRCm38) missense probably damaging 1.00
R6856:Nek3 UTSW 8 22,129,447 (GRCm38) missense probably damaging 1.00
R8056:Nek3 UTSW 8 22,129,343 (GRCm38) critical splice donor site probably null
R8129:Nek3 UTSW 8 22,149,892 (GRCm38) missense probably damaging 0.99
R8132:Nek3 UTSW 8 22,157,020 (GRCm38) nonsense probably null
R9213:Nek3 UTSW 8 22,148,661 (GRCm38) missense probably benign 0.00
R9708:Nek3 UTSW 8 22,128,726 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-01-23