Incidental Mutation 'IGL01753:Nek2'
ID153150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek2
Ensembl Gene ENSMUSG00000026622
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01753
Quality Score
Status
Chromosome1
Chromosomal Location191821444-191833050 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 191825486 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 187 (Q187*)
Ref Sequence ENSEMBL: ENSMUSP00000027931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027931]
Predicted Effect probably null
Transcript: ENSMUST00000027931
AA Change: Q187*
SMART Domains Protein: ENSMUSP00000027931
Gene: ENSMUSG00000026622
AA Change: Q187*

DomainStartEndE-ValueType
S_TKc 8 271 5.59e-86 SMART
low complexity region 277 292 N/A INTRINSIC
coiled coil region 339 355 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192600
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 serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A G 16: 85,802,224 F163L probably benign Het
Ap2b1 A G 11: 83,321,973 T60A probably damaging Het
Casp3 A G 8: 46,629,741 probably benign Het
Ces1d T C 8: 93,192,810 Y118C probably damaging Het
Chuk T C 19: 44,098,576 probably benign Het
Clec4b2 A T 6: 123,202,210 Y157F possibly damaging Het
Dlg4 T A 11: 70,041,347 F480I probably damaging Het
Dock8 T A 19: 25,061,292 probably benign Het
Dsg1b T C 18: 20,397,849 probably benign Het
Dstyk T C 1: 132,462,939 Y830H probably damaging Het
Gm9268 T A 7: 43,024,715 V399E probably damaging Het
Hook2 T C 8: 84,993,236 probably null Het
Ighv2-9-1 T C 12: 113,769,928 D91G probably damaging Het
Igkv12-41 T C 6: 69,858,526 R81G probably damaging Het
Ispd C T 12: 36,473,177 L202F probably damaging Het
Jmjd1c T A 10: 67,232,015 S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 V1670I probably benign Het
Naa15 T C 3: 51,442,853 F124L probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pif1 G A 9: 65,593,308 G505D probably damaging Het
Plxna4 T A 6: 32,310,478 I495F probably benign Het
Ppp1r21 T C 17: 88,562,102 probably benign Het
Prex1 T C 2: 166,602,882 I282V probably benign Het
Pzp A T 6: 128,502,183 I669N possibly damaging Het
Sipa1l2 T A 8: 125,453,292 probably benign Het
Top2a T A 11: 99,007,274 T689S probably damaging Het
Trerf1 T A 17: 47,315,436 noncoding transcript Het
Uso1 T C 5: 92,152,918 probably null Het
Zcchc7 A G 4: 44,929,217 I390V probably benign Het
Zfp90 C T 8: 106,424,150 T165I probably benign Het
Other mutations in Nek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Nek2 APN 1 191827378 splice site probably benign
IGL02086:Nek2 APN 1 191831289 missense probably benign 0.03
IGL02164:Nek2 APN 1 191827304 missense probably benign 0.01
IGL02550:Nek2 APN 1 191822259 missense probably damaging 1.00
R0398:Nek2 UTSW 1 191827361 missense probably benign
R0610:Nek2 UTSW 1 191822515 missense probably damaging 1.00
R0629:Nek2 UTSW 1 191831317 missense probably benign 0.14
R0646:Nek2 UTSW 1 191822219 missense probably damaging 1.00
R0976:Nek2 UTSW 1 191827237 missense probably benign 0.10
R2054:Nek2 UTSW 1 191821652 missense possibly damaging 0.79
R2112:Nek2 UTSW 1 191827208 missense probably benign 0.08
R3873:Nek2 UTSW 1 191827208 missense probably benign 0.08
R4461:Nek2 UTSW 1 191822715 missense probably damaging 1.00
R5947:Nek2 UTSW 1 191829485 missense probably benign 0.17
R6807:Nek2 UTSW 1 191822617 missense probably damaging 0.98
Posted On2014-02-04