Incidental Mutation 'R0827:Nek1'
ID 78320
Institutional Source Beutler Lab
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
MMRRC Submission 039007-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0827 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 61558682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644

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
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644

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
Predicted Effect probably benign
Transcript: ENSMUST00000211672
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Dusp13b C A 14: 21,792,839 (GRCm39) V29L probably benign Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,115 (GRCm39) S31T possibly damaging Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Myo3a T G 2: 22,448,227 (GRCm39) Y1D probably damaging Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Ripor2 T A 13: 24,878,169 (GRCm39) F315I probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign 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
IGL02006:Nek1 APN 8 61,557,226 (GRCm39) missense probably benign 0.20
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
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
Predicted Primers PCR Primer
(F):5'- CTTGGACAAGGAAGCAGGGGATACTA -3'
(R):5'- CCTCATACCAGGAAAACGGAATCAAAGT -3'

Sequencing Primer
(F):5'- ACTAGTAGATGTGGGTTTCATTTTC -3'
(R):5'- ccgactaggccatcttttgatac -3'
Posted On 2013-10-16