Incidental Mutation 'IGL02826:Nek3'
ID361231
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 #IGL02826
Quality Score
Status
Chromosome8
Chromosomal Location22128283-22166435 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 22160368 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000178324]
Predicted Effect probably null
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 null
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 null
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
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
1110004E09Rik A C 16: 90,926,062 D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 probably benign Het
4930404N11Rik A G 10: 81,364,736 probably benign Het
A3galt2 T C 4: 128,761,509 probably benign Het
Alk C T 17: 71,869,536 G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 S34P probably benign Het
Atp2a2 A G 5: 122,489,291 V137A probably benign Het
Atp8b5 A G 4: 43,366,770 M845V probably damaging Het
Camk1d A G 2: 5,565,760 V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 T193I probably benign Het
Chst15 T A 7: 132,266,746 D315V probably damaging Het
Cux1 G T 5: 136,308,003 P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 E88K possibly damaging Het
Dido1 A G 2: 180,683,958 V479A probably benign Het
Dlc1 G T 8: 36,570,275 probably benign Het
H2-Ab1 G A 17: 34,264,911 R82Q probably damaging Het
Hps6 T A 19: 46,006,041 *806K probably null Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Kdm1b C A 13: 47,080,467 T759K probably damaging Het
Kirrel C A 3: 87,088,485 V381F probably damaging Het
Kmt2b A T 7: 30,577,144 V1701E probably damaging Het
Lrmda T C 14: 22,828,737 Y100H probably damaging Het
Mastl T C 2: 23,145,409 I169V probably damaging Het
Mroh2b A G 15: 4,962,148 E1576G probably damaging Het
Nipal3 G T 4: 135,468,550 Y247* probably null Het
Nt5e A C 9: 88,355,705 K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 G233C probably damaging Het
Opa1 A G 16: 29,610,887 M290V probably null Het
Parp2 T A 14: 50,815,415 I155K probably benign Het
Pde4dip G T 3: 97,767,087 A171E probably damaging Het
Prom2 C T 2: 127,531,116 E678K probably benign Het
Rab12 A G 17: 66,498,116 probably benign Het
Rgs8 A T 1: 153,670,799 T13S probably damaging Het
Setd3 A G 12: 108,112,124 probably benign Het
Slx4ip G A 2: 137,004,973 V53I probably damaging Het
Stil A G 4: 115,024,098 D613G probably benign Het
Tjp3 T A 10: 81,273,689 S858C probably damaging Het
Tmem215 A G 4: 40,474,632 *236W probably null Het
Ttbk1 A G 17: 46,470,660 V389A probably benign Het
Wdfy4 A G 14: 32,971,750 F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 S428G probably benign Het
Zfp286 T C 11: 62,787,960 Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 K468E probably damaging Het
Other mutations in Nek3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Nek3 APN 8 22158706 missense probably damaging 1.00
IGL01561:Nek3 APN 8 22129456 missense probably damaging 0.97
IGL02799:Nek3 APN 8 22158719 splice site probably benign
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 On2015-12-18