Incidental Mutation 'IGL02826:Nek3'
ID 361231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek3
Ensembl Gene ENSMUSG00000031478
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02826
Quality Score
Chromosome 8
Chromosomal Location 22128283-22166435 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 22160368 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000178324]
AlphaFold Q9R0A5
Predicted Effect probably null
Transcript: ENSMUST00000033865
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478

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 null
Transcript: ENSMUST00000110730
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478

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 null
Transcript: ENSMUST00000178324
SMART Domains Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478

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
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,509 (GRCm38) probably benign Het
Alk C T 17: 71,869,536 (GRCm38) G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 (GRCm38) S34P probably benign Het
Atp2a2 A G 5: 122,489,291 (GRCm38) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm38) M845V probably damaging Het
Camk1d A G 2: 5,565,760 (GRCm38) V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 (GRCm38) T193I probably benign Het
Cfap298 A C 16: 90,926,062 (GRCm38) D261E probably benign Het
Chst15 T A 7: 132,266,746 (GRCm38) D315V probably damaging Het
Cux1 G T 5: 136,308,003 (GRCm38) P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 (GRCm38) E88K possibly damaging Het
Dido1 A G 2: 180,683,958 (GRCm38) V479A probably benign Het
Dlc1 G T 8: 36,570,275 (GRCm38) probably benign Het
H2-Ab1 G A 17: 34,264,911 (GRCm38) R82Q probably damaging Het
Hps6 T A 19: 46,006,041 (GRCm38) *806K probably null Het
Ilf3 T C 9: 21,398,044 (GRCm38) S486P probably benign Het
Kdm1b C A 13: 47,080,467 (GRCm38) T759K probably damaging Het
Kirrel1 C A 3: 87,088,485 (GRCm38) V381F probably damaging Het
Kmt2b A T 7: 30,577,144 (GRCm38) V1701E probably damaging Het
Lrmda T C 14: 22,828,737 (GRCm38) Y100H probably damaging Het
Mastl T C 2: 23,145,409 (GRCm38) I169V probably damaging Het
Mroh2b A G 15: 4,962,148 (GRCm38) E1576G probably damaging Het
Nipal3 G T 4: 135,468,550 (GRCm38) Y247* probably null Het
Nt5e A C 9: 88,355,705 (GRCm38) K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 (GRCm38) I91V possibly damaging Het
Opa1 A G 16: 29,610,887 (GRCm38) M290V probably null Het
Or8d6 G T 9: 39,942,958 (GRCm38) G233C probably damaging Het
Parp2 T A 14: 50,815,415 (GRCm38) I155K probably benign Het
Pde4dip G T 3: 97,767,087 (GRCm38) A171E probably damaging Het
Prom2 C T 2: 127,531,116 (GRCm38) E678K probably benign Het
Rab12 A G 17: 66,498,116 (GRCm38) probably benign Het
Rgs8 A T 1: 153,670,799 (GRCm38) T13S probably damaging Het
Setd3 A G 12: 108,112,124 (GRCm38) probably benign Het
Shisal1 A G 15: 84,420,129 (GRCm38) probably benign Het
Slx4ip G A 2: 137,004,973 (GRCm38) V53I probably damaging Het
Stil A G 4: 115,024,098 (GRCm38) D613G probably benign Het
Tektip1 A G 10: 81,364,736 (GRCm38) probably benign Het
Tjp3 T A 10: 81,273,689 (GRCm38) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm38) *236W probably null Het
Ttbk1 A G 17: 46,470,660 (GRCm38) V389A probably benign Het
Wdfy4 A G 14: 32,971,750 (GRCm38) F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 (GRCm38) V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 (GRCm38) S428G probably benign Het
Zfp286 T C 11: 62,787,960 (GRCm38) Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 (GRCm38) K468E 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
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 22,131,297 (GRCm38) missense probably damaging 1.00
R5790:Nek3 UTSW 8 22,131,298 (GRCm38) missense probably damaging 1.00
R6856:Nek3 UTSW 8 22,129,447 (GRCm38) missense probably damaging 1.00
R8021:Nek3 UTSW 8 22,157,190 (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
Posted On 2015-12-18