Incidental Mutation 'R0001:Nek3'
ID 157127
Institutional Source Beutler Lab
Gene Symbol Nek3
Ensembl Gene ENSMUSG00000031478
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 3
Synonyms
MMRRC Submission 038297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0001 (G1)
Quality Score 75
Status Validated
Chromosome 8
Chromosomal Location 22618299-22656451 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 22648628 bp (GRCm39)
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 benign
Transcript: ENSMUST00000033865
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000110730
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000178324
SMART Domains Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (76/77)
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
2900092C05Rik T A 7: 12,288,534 (GRCm39) probably benign Het
A4galt A G 15: 83,112,490 (GRCm39) F98L probably benign Het
Abca4 T G 3: 121,874,660 (GRCm39) probably benign Het
Acacb C T 5: 114,342,894 (GRCm39) probably benign Het
Agbl1 A T 7: 76,069,611 (GRCm39) H367L probably damaging Het
Apoa4 C A 9: 46,154,190 (GRCm39) Q264K probably benign Het
Camsap2 A T 1: 136,210,626 (GRCm39) probably benign Het
Cdan1 C A 2: 120,554,232 (GRCm39) R939L probably benign Het
Ceacam18 G A 7: 43,286,300 (GRCm39) V58I possibly damaging Het
Ciita A T 16: 10,332,297 (GRCm39) probably benign Het
Clk4 T A 11: 51,159,592 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,507,105 (GRCm39) D215G probably benign Het
Col11a2 T C 17: 34,280,586 (GRCm39) S1218P probably benign Het
Col20a1 T C 2: 180,626,205 (GRCm39) probably benign Het
Ctsb A G 14: 63,373,071 (GRCm39) E76G probably benign Het
Ctu2 T C 8: 123,205,659 (GRCm39) C161R probably benign Het
Dhx29 T C 13: 113,101,090 (GRCm39) L1211P probably damaging Het
Dhx9 G T 1: 153,338,382 (GRCm39) T759K probably damaging Het
Dmxl1 T C 18: 50,021,964 (GRCm39) probably benign Het
Dpysl3 C T 18: 43,491,440 (GRCm39) E226K possibly damaging Het
Eif2d A T 1: 131,095,864 (GRCm39) K453* probably null Het
Epha7 T C 4: 28,961,279 (GRCm39) probably benign Het
Fat3 T C 9: 16,289,169 (GRCm39) D118G probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Foxn4 T A 5: 114,398,931 (GRCm39) Q159L probably damaging Het
Frs2 G T 10: 116,910,781 (GRCm39) H194N possibly damaging Het
Fut8 A T 12: 77,522,089 (GRCm39) *576L probably null Het
Galns T C 8: 123,322,622 (GRCm39) probably benign Het
Gamt G A 10: 80,094,895 (GRCm39) probably benign Het
Gpn1 T A 5: 31,652,961 (GRCm39) probably benign Het
Ipcef1 G T 10: 6,850,600 (GRCm39) H330Q probably damaging Het
Itga4 A C 2: 79,156,931 (GRCm39) Y1024S probably damaging Het
Jak2 A G 19: 29,259,787 (GRCm39) I229V probably benign Het
Katnal1 A G 5: 148,858,085 (GRCm39) S42P probably damaging Het
Kcnu1 A T 8: 26,349,298 (GRCm39) D142V probably damaging Het
Lig3 C T 11: 82,681,417 (GRCm39) R470W probably damaging Het
Mgat4c A G 10: 102,224,817 (GRCm39) S344G probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 C T 12: 57,507,625 (GRCm39) probably benign Het
Mki67 C T 7: 135,300,901 (GRCm39) V1378M probably damaging Het
Mki67 T A 7: 135,302,748 (GRCm39) D762V probably damaging Het
Mmp9 A G 2: 164,790,303 (GRCm39) T43A probably benign Het
Muc6 T C 7: 141,227,841 (GRCm39) T1316A possibly damaging Het
Naip5 A G 13: 100,351,158 (GRCm39) probably null Het
Naip5 C A 13: 100,359,622 (GRCm39) S538I probably benign Het
Nlrp1b A G 11: 71,052,585 (GRCm39) S948P probably damaging Het
Nyap2 A T 1: 81,169,822 (GRCm39) H193L probably benign Het
Or52h1 T A 7: 103,828,680 (GRCm39) K312* probably null Het
Or9s23 A G 1: 92,501,183 (GRCm39) K97E possibly damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pcdhb11 A T 18: 37,557,042 (GRCm39) R791W probably benign Het
Pkd1l3 C A 8: 110,355,265 (GRCm39) probably benign Het
Pkn2 A T 3: 142,534,749 (GRCm39) V73D probably benign Het
Pknox1 A T 17: 31,818,610 (GRCm39) H281L probably damaging Het
Polr3a A G 14: 24,502,257 (GRCm39) probably benign Het
Prss38 A G 11: 59,264,006 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,585,416 (GRCm39) F783S probably damaging Het
Rbm5 T C 9: 107,619,623 (GRCm39) R125G probably damaging Het
Rnpep A G 1: 135,200,223 (GRCm39) probably benign Het
Slc1a5 T A 7: 16,527,562 (GRCm39) probably null Het
Slc22a4 G A 11: 53,918,829 (GRCm39) probably benign Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Spmip5 G A 19: 58,777,603 (GRCm39) A61V probably damaging Het
Svep1 G A 4: 58,066,460 (GRCm39) T3208I possibly damaging Het
Tgm5 G T 2: 120,908,127 (GRCm39) D16E probably damaging Het
Tpp2 A G 1: 44,010,886 (GRCm39) N558D probably benign Het
Trappc9 A T 15: 72,835,511 (GRCm39) L507Q probably damaging Het
Trpm3 A T 19: 22,692,695 (GRCm39) Q262L possibly damaging Het
Ttn A G 2: 76,607,316 (GRCm39) probably benign Het
Ttn G A 2: 76,662,433 (GRCm39) probably benign Het
Ubr4 T A 4: 139,179,099 (GRCm39) L3316Q probably damaging Het
Uckl1 T A 2: 181,216,448 (GRCm39) Y136F probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps39 A G 2: 120,148,534 (GRCm39) V870A probably benign Het
Zdhhc25 A G 15: 88,485,112 (GRCm39) D149G probably benign Het
Zfp648 C T 1: 154,081,032 (GRCm39) T397M probably damaging Het
Zic2 C A 14: 122,716,369 (GRCm39) T435K probably damaging Het
Other mutations in Nek3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Nek3 APN 8 22,648,722 (GRCm39) missense probably damaging 1.00
IGL01561:Nek3 APN 8 22,619,472 (GRCm39) missense probably damaging 0.97
IGL02799:Nek3 APN 8 22,648,735 (GRCm39) splice site probably benign
IGL02826:Nek3 APN 8 22,650,384 (GRCm39) critical splice donor site probably null
R0390:Nek3 UTSW 8 22,618,745 (GRCm39) unclassified probably benign
R1367:Nek3 UTSW 8 22,650,377 (GRCm39) splice site probably benign
R1565:Nek3 UTSW 8 22,622,217 (GRCm39) critical splice acceptor site probably null
R1758:Nek3 UTSW 8 22,650,278 (GRCm39) missense probably damaging 1.00
R1924:Nek3 UTSW 8 22,647,047 (GRCm39) missense probably damaging 1.00
R3905:Nek3 UTSW 8 22,623,107 (GRCm39) missense probably benign 0.01
R4078:Nek3 UTSW 8 22,622,153 (GRCm39) missense probably damaging 1.00
R4089:Nek3 UTSW 8 22,639,929 (GRCm39) missense probably damaging 1.00
R4621:Nek3 UTSW 8 22,647,055 (GRCm39) missense probably damaging 1.00
R5207:Nek3 UTSW 8 22,622,243 (GRCm39) intron probably benign
R5432:Nek3 UTSW 8 22,638,748 (GRCm39) splice site probably null
R5790:Nek3 UTSW 8 22,621,314 (GRCm39) missense probably damaging 1.00
R5790:Nek3 UTSW 8 22,621,313 (GRCm39) missense probably damaging 1.00
R6856:Nek3 UTSW 8 22,619,463 (GRCm39) missense probably damaging 1.00
R8021:Nek3 UTSW 8 22,647,206 (GRCm39) missense probably damaging 1.00
R8056:Nek3 UTSW 8 22,619,359 (GRCm39) critical splice donor site probably null
R8129:Nek3 UTSW 8 22,639,908 (GRCm39) missense probably damaging 0.99
R8132:Nek3 UTSW 8 22,647,036 (GRCm39) nonsense probably null
R9213:Nek3 UTSW 8 22,638,677 (GRCm39) missense probably benign 0.00
R9708:Nek3 UTSW 8 22,618,742 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTAAAAGAAGGGAAggggctagagac -3'
(R):5'- ACAAAACATGGGAAACGGATTTCTGAAC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GGAAACGGATTTCTGAACTTCTCC -3'
Posted On 2014-02-14