Incidental Mutation 'IGL00569:Nek3'
ID6236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek3
Ensembl Gene ENSMUSG00000031478
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00569
Quality Score
Status
Chromosome8
Chromosomal Location22128283-22166435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22158706 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000106358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000178324]
Predicted Effect probably damaging
Transcript: ENSMUST00000033865
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478
AA Change: L103P

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 damaging
Transcript: ENSMUST00000110730
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478
AA Change: L103P

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 damaging
Transcript: ENSMUST00000178324
AA Change: L103P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478
AA Change: L103P

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik A T 7: 29,534,140 noncoding transcript Het
Abca6 T G 11: 110,187,049 N1311H possibly damaging Het
Apol8 C T 15: 77,750,055 R107H probably benign Het
Cacna1a T A 8: 84,462,714 I98N probably damaging Het
Clps T A 17: 28,560,662 probably benign Het
Dcc T A 18: 71,384,225 probably null Het
Dock10 A G 1: 80,585,012 F544L probably damaging Het
Eif2ak2 A T 17: 78,869,483 S218T probably benign Het
Faf1 T C 4: 109,961,880 *650Q probably null Het
Fxn A T 19: 24,267,350 I142N probably damaging Het
Gm10610 A T 7: 83,549,570 noncoding transcript Het
Gm9774 T C 3: 92,428,400 T332A probably benign Het
Hspa1l C T 17: 34,977,465 T160I probably damaging Het
Kcng4 A G 8: 119,626,331 V280A probably benign Het
Khsrp T C 17: 57,023,092 T646A possibly damaging Het
Lilra6 A G 7: 3,914,589 S136P probably damaging Het
Lmo7 T G 14: 101,887,051 N315K probably damaging Het
Map3k5 A G 10: 19,935,044 T147A possibly damaging Het
Mical3 T C 6: 120,961,624 E1134G possibly damaging Het
Nudt17 G T 3: 96,707,027 P222Q probably damaging Het
Pla2r1 G T 2: 60,420,425 T1386K probably benign Het
Ptpn13 A G 5: 103,591,006 probably benign Het
Rgl1 A C 1: 152,571,617 S134A probably benign Het
Rnls T A 19: 33,168,488 E195V probably benign Het
Sall4 T C 2: 168,755,312 N536S probably benign Het
Serinc3 G T 2: 163,628,001 P309Q probably damaging Het
Smc5 G A 19: 23,235,965 R528C probably damaging Het
Stxbp3-ps A T 19: 9,557,822 noncoding transcript Het
Tmem67 T A 4: 12,061,826 I549L probably damaging Het
Trank1 C A 9: 111,345,511 H269N possibly damaging Het
Other mutations in Nek3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Nek3 APN 8 22129456 missense probably damaging 0.97
IGL02799:Nek3 APN 8 22158719 splice site probably benign
IGL02826:Nek3 APN 8 22160368 critical splice donor site probably null
R0001:Nek3 UTSW 8 22158612 splice site probably benign
R0390:Nek3 UTSW 8 22128729 unclassified probably benign
R1367:Nek3 UTSW 8 22160361 splice site probably benign
R1565:Nek3 UTSW 8 22132201 critical splice acceptor site probably null
R1758:Nek3 UTSW 8 22160262 missense probably damaging 1.00
R1924:Nek3 UTSW 8 22157031 missense probably damaging 1.00
R3905:Nek3 UTSW 8 22133091 missense probably benign 0.01
R4078:Nek3 UTSW 8 22132137 missense probably damaging 1.00
R4089:Nek3 UTSW 8 22149913 missense probably damaging 1.00
R4621:Nek3 UTSW 8 22157039 missense probably damaging 1.00
R5207:Nek3 UTSW 8 22132227 intron probably benign
R5432:Nek3 UTSW 8 22148732 intron probably null
R5790:Nek3 UTSW 8 22131297 missense probably damaging 1.00
R5790:Nek3 UTSW 8 22131298 missense probably damaging 1.00
R6856:Nek3 UTSW 8 22129447 missense probably damaging 1.00
Posted On2012-04-20