Incidental Mutation 'IGL02006:Nek1'
ID 183191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek1
Ensembl Gene ENSMUSG00000031644
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 1
Synonyms kat, D8Ertd790e, kidney, anemia and testis
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02006
Quality Score
Status
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61557226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 940 (N940K)
Ref Sequence ENSEMBL: ENSMUSP00000147809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect probably benign
Transcript: ENSMUST00000034065
AA Change: N868K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: N868K

DomainStartEndE-ValueType
S_TKc 4 258 4.23e-95 SMART
Blast:S_TKc 266 303 3e-7 BLAST
low complexity region 321 337 N/A INTRINSIC
coiled coil region 372 402 N/A INTRINSIC
coiled coil region 556 592 N/A INTRINSIC
coiled coil region 647 685 N/A INTRINSIC
low complexity region 767 780 N/A INTRINSIC
low complexity region 1130 1141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120689
AA Change: N896K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: N896K

DomainStartEndE-ValueType
S_TKc 4 258 4.23e-95 SMART
Blast:S_TKc 266 303 3e-7 BLAST
low complexity region 321 337 N/A INTRINSIC
coiled coil region 372 402 N/A INTRINSIC
coiled coil region 487 510 N/A INTRINSIC
low complexity region 521 533 N/A INTRINSIC
coiled coil region 584 620 N/A INTRINSIC
coiled coil region 675 713 N/A INTRINSIC
low complexity region 795 808 N/A INTRINSIC
low complexity region 1158 1169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155664
Predicted Effect probably benign
Transcript: ENSMUST00000211256
AA Change: N843K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000211672
AA Change: N940K

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(1) Gene trapped(1) Spontaneous(2)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,117,582 (GRCm39) G182S probably damaging Het
Akr1b7 A T 6: 34,392,385 (GRCm39) N66I probably benign Het
Arrdc3 T A 13: 81,031,893 (GRCm39) I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 (GRCm39) A316E probably damaging Het
Atp8a2 A G 14: 60,094,497 (GRCm39) V847A possibly damaging Het
Ccdc171 A G 4: 83,713,479 (GRCm39) N1173D possibly damaging Het
Crb2 A C 2: 37,676,475 (GRCm39) D152A probably damaging Het
Ecm1 T C 3: 95,641,557 (GRCm39) E559G probably damaging Het
Ephb1 A G 9: 102,071,971 (GRCm39) probably null Het
Fndc11 C A 2: 180,863,884 (GRCm39) R230S probably damaging Het
Frem1 A G 4: 82,911,037 (GRCm39) probably null Het
Fyco1 G A 9: 123,658,896 (GRCm39) Q427* probably null Het
Gm17541 A G 12: 4,739,619 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,330 (GRCm39) V809M probably damaging Het
Gm7293 A G 9: 51,534,043 (GRCm39) noncoding transcript Het
Ift52 T C 2: 162,865,289 (GRCm39) S47P probably benign Het
Iqcf6 A G 9: 106,504,510 (GRCm39) D58G probably benign Het
Itm2b T C 14: 73,600,488 (GRCm39) probably benign Het
Jakmip1 T C 5: 37,278,331 (GRCm39) I536T probably damaging Het
Kcnh1 T G 1: 191,873,323 (GRCm39) M3R possibly damaging Het
Kcnh5 G T 12: 74,944,322 (GRCm39) P976T probably damaging Het
Layn G A 9: 50,968,591 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,347,317 (GRCm39) Q3126L probably damaging Het
Meioc A T 11: 102,565,092 (GRCm39) D180V probably damaging Het
Myo15a T A 11: 60,401,954 (GRCm39) C3066S probably damaging Het
Nbeal1 T C 1: 60,311,418 (GRCm39) probably null Het
Negr1 T C 3: 156,721,810 (GRCm39) probably benign Het
Nfkbib A T 7: 28,465,667 (GRCm39) probably null Het
Nol4 T A 18: 23,054,975 (GRCm39) T152S probably damaging Het
Oas3 G T 5: 120,907,300 (GRCm39) R446S probably benign Het
Oosp3 C T 19: 11,676,784 (GRCm39) L48F probably damaging Het
Or2r3 A G 6: 42,449,025 (GRCm39) V29A probably benign Het
Or2w25 T C 11: 59,503,985 (GRCm39) L65P probably damaging Het
Pik3ap1 C A 19: 41,291,032 (GRCm39) W500L probably benign Het
Ppih A G 4: 119,168,779 (GRCm39) probably benign Het
Ro60 G T 1: 143,636,084 (GRCm39) probably benign Het
Slc7a15 T C 12: 8,585,508 (GRCm39) probably null Het
Srl T C 16: 4,315,150 (GRCm39) E164G probably benign Het
Tbx10 C A 19: 4,048,186 (GRCm39) T237K probably damaging Het
Vwa5b2 T C 16: 20,415,843 (GRCm39) V392A probably damaging Het
Wfdc5 A T 2: 164,024,483 (GRCm39) probably benign Het
Xirp2 T C 2: 67,342,306 (GRCm39) F1516L possibly damaging Het
Znfx1 A G 2: 166,897,683 (GRCm39) C414R probably damaging Het
Other mutations in Nek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Nek1 APN 8 61,496,318 (GRCm39) missense probably benign 0.00
IGL01075:Nek1 APN 8 61,577,166 (GRCm39) missense possibly damaging 0.64
IGL01122:Nek1 APN 8 61,574,000 (GRCm39) missense possibly damaging 0.80
IGL01151:Nek1 APN 8 61,473,111 (GRCm39) missense probably damaging 1.00
IGL01286:Nek1 APN 8 61,577,250 (GRCm39) missense possibly damaging 0.64
IGL01377:Nek1 APN 8 61,542,490 (GRCm39) missense probably benign
IGL01485:Nek1 APN 8 61,502,860 (GRCm39) missense probably benign 0.02
IGL01688:Nek1 APN 8 61,558,631 (GRCm39) nonsense probably null
IGL01806:Nek1 APN 8 61,577,246 (GRCm39) missense possibly damaging 0.82
IGL02304:Nek1 APN 8 61,465,201 (GRCm39) missense probably damaging 1.00
IGL02659:Nek1 APN 8 61,542,514 (GRCm39) missense probably benign 0.16
IGL02662:Nek1 APN 8 61,557,218 (GRCm39) missense probably benign 0.00
IGL02801:Nek1 APN 8 61,574,095 (GRCm39) critical splice donor site probably null
IGL02806:Nek1 APN 8 61,497,120 (GRCm39) missense probably benign 0.15
IGL03037:Nek1 APN 8 61,487,086 (GRCm39) missense probably benign 0.16
IGL03252:Nek1 APN 8 61,525,364 (GRCm39) nonsense probably null
P0014:Nek1 UTSW 8 61,524,781 (GRCm39) splice site probably benign
R0019:Nek1 UTSW 8 61,542,768 (GRCm39) missense probably benign 0.01
R0403:Nek1 UTSW 8 61,559,889 (GRCm39) missense probably damaging 0.99
R0464:Nek1 UTSW 8 61,525,307 (GRCm39) splice site probably benign
R0726:Nek1 UTSW 8 61,542,626 (GRCm39) missense probably damaging 1.00
R0761:Nek1 UTSW 8 61,542,489 (GRCm39) missense probably benign
R0827:Nek1 UTSW 8 61,558,682 (GRCm39) splice site probably benign
R0972:Nek1 UTSW 8 61,542,465 (GRCm39) splice site probably null
R1268:Nek1 UTSW 8 61,475,298 (GRCm39) missense probably damaging 1.00
R1343:Nek1 UTSW 8 61,481,709 (GRCm39) missense probably damaging 1.00
R1415:Nek1 UTSW 8 61,542,720 (GRCm39) missense probably benign 0.00
R1466:Nek1 UTSW 8 61,578,170 (GRCm39) splice site probably benign
R1480:Nek1 UTSW 8 61,577,360 (GRCm39) splice site probably null
R1526:Nek1 UTSW 8 61,502,975 (GRCm39) missense probably benign 0.26
R1552:Nek1 UTSW 8 61,459,771 (GRCm39) missense probably damaging 0.99
R1606:Nek1 UTSW 8 61,577,310 (GRCm39) missense possibly damaging 0.82
R1650:Nek1 UTSW 8 61,489,110 (GRCm39) missense probably benign 0.00
R1757:Nek1 UTSW 8 61,542,847 (GRCm39) splice site probably null
R1808:Nek1 UTSW 8 61,469,264 (GRCm39) missense probably damaging 1.00
R1966:Nek1 UTSW 8 61,469,330 (GRCm39) missense probably damaging 1.00
R2067:Nek1 UTSW 8 61,460,196 (GRCm39) missense probably damaging 1.00
R2111:Nek1 UTSW 8 61,577,360 (GRCm39) splice site probably null
R2113:Nek1 UTSW 8 61,469,327 (GRCm39) missense probably damaging 1.00
R2143:Nek1 UTSW 8 61,481,730 (GRCm39) missense probably damaging 1.00
R2255:Nek1 UTSW 8 61,542,807 (GRCm39) missense probably damaging 1.00
R2422:Nek1 UTSW 8 61,472,935 (GRCm39) missense probably damaging 1.00
R3848:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R3849:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R3850:Nek1 UTSW 8 61,525,349 (GRCm39) missense probably damaging 0.99
R4418:Nek1 UTSW 8 61,559,898 (GRCm39) missense probably damaging 1.00
R4526:Nek1 UTSW 8 61,559,978 (GRCm39) missense probably damaging 0.99
R4533:Nek1 UTSW 8 61,460,247 (GRCm39) missense possibly damaging 0.95
R4544:Nek1 UTSW 8 61,469,338 (GRCm39) nonsense probably null
R4677:Nek1 UTSW 8 61,481,840 (GRCm39) missense probably damaging 0.99
R4739:Nek1 UTSW 8 61,551,545 (GRCm39) missense probably benign 0.32
R5068:Nek1 UTSW 8 61,469,330 (GRCm39) missense probably damaging 1.00
R5421:Nek1 UTSW 8 61,459,711 (GRCm39) missense possibly damaging 0.81
R5516:Nek1 UTSW 8 61,542,523 (GRCm39) missense probably benign 0.03
R5855:Nek1 UTSW 8 61,469,306 (GRCm39) missense probably damaging 1.00
R6125:Nek1 UTSW 8 61,481,735 (GRCm39) missense probably damaging 1.00
R6267:Nek1 UTSW 8 61,525,343 (GRCm39) nonsense probably null
R6292:Nek1 UTSW 8 61,507,770 (GRCm39) splice site probably null
R6296:Nek1 UTSW 8 61,525,343 (GRCm39) nonsense probably null
R6458:Nek1 UTSW 8 61,553,046 (GRCm39) missense probably benign 0.00
R6568:Nek1 UTSW 8 61,559,855 (GRCm39) missense probably benign 0.00
R6629:Nek1 UTSW 8 61,507,367 (GRCm39) splice site probably null
R6867:Nek1 UTSW 8 61,525,364 (GRCm39) missense possibly damaging 0.81
R7122:Nek1 UTSW 8 61,559,829 (GRCm39) missense probably benign 0.00
R7193:Nek1 UTSW 8 61,526,612 (GRCm39) missense probably damaging 0.99
R7272:Nek1 UTSW 8 61,578,120 (GRCm39) missense probably benign 0.34
R7356:Nek1 UTSW 8 61,573,994 (GRCm39) missense probably benign 0.02
R7368:Nek1 UTSW 8 61,542,741 (GRCm39) missense probably benign 0.24
R7478:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7479:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7512:Nek1 UTSW 8 61,583,179 (GRCm39) missense probably benign 0.03
R7715:Nek1 UTSW 8 61,459,794 (GRCm39) missense probably damaging 0.98
R7984:Nek1 UTSW 8 61,574,087 (GRCm39) nonsense probably null
R8271:Nek1 UTSW 8 61,558,646 (GRCm39) missense probably benign 0.04
R8431:Nek1 UTSW 8 61,487,066 (GRCm39) missense possibly damaging 0.95
R9076:Nek1 UTSW 8 61,481,768 (GRCm39) missense probably damaging 0.96
R9149:Nek1 UTSW 8 61,574,055 (GRCm39) missense probably damaging 1.00
R9250:Nek1 UTSW 8 61,465,151 (GRCm39) missense probably damaging 0.99
R9429:Nek1 UTSW 8 61,559,892 (GRCm39) missense probably benign
R9563:Nek1 UTSW 8 61,577,157 (GRCm39) missense probably benign 0.36
R9616:Nek1 UTSW 8 61,473,107 (GRCm39) missense probably damaging 0.99
RF023:Nek1 UTSW 8 61,525,779 (GRCm39) splice site probably null
X0028:Nek1 UTSW 8 61,496,292 (GRCm39) missense probably benign 0.19
X0066:Nek1 UTSW 8 61,578,162 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07