Incidental Mutation 'R2255:Nek1'
ID 241951
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 040255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2255 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61542807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 702 (L702P)
Ref Sequence ENSEMBL: ENSMUSP00000147258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect probably damaging
Transcript: ENSMUST00000034065
AA Change: L727P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: L727P

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 damaging
Transcript: ENSMUST00000120689
AA Change: L755P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: L755P

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: ENSMUST00000142601
SMART Domains Protein: ENSMUSP00000121479
Gene: ENSMUSG00000031644

DomainStartEndE-ValueType
low complexity region 38 47 N/A INTRINSIC
coiled coil region 162 198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155664
Predicted Effect probably damaging
Transcript: ENSMUST00000211256
AA Change: L702P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211672
AA Change: L799P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G A 17: 46,616,561 (GRCm39) T1210I probably benign Het
Agbl1 T C 7: 76,071,932 (GRCm39) F581S probably damaging Het
Ambra1 A T 2: 91,747,806 (GRCm39) N1061Y probably damaging Het
Aoc1l1 G A 6: 48,952,891 (GRCm39) R272H possibly damaging Het
Arl6ip5 T C 6: 97,209,361 (GRCm39) L132S probably damaging Het
Atp10b G A 11: 43,125,207 (GRCm39) V1058I probably damaging Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Bpifa6 T A 2: 153,832,815 (GRCm39) I310N probably damaging Het
Btnl9 A T 11: 49,060,143 (GRCm39) L535* probably null Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Catip T C 1: 74,408,159 (GRCm39) probably benign Het
Ccdc180 T A 4: 45,921,996 (GRCm39) S1023R probably damaging Het
Ces2g G A 8: 105,694,046 (GRCm39) E461K probably damaging Het
Chad C A 11: 94,456,523 (GRCm39) H200Q possibly damaging Het
Crbn C T 6: 106,772,159 (GRCm39) probably null Het
Crip3 G C 17: 46,740,298 (GRCm39) E33Q probably damaging Het
D130043K22Rik A T 13: 25,040,894 (GRCm39) R105S probably damaging Het
Dmxl1 C T 18: 49,979,706 (GRCm39) H114Y probably benign Het
Dpp3 T C 19: 4,968,347 (GRCm39) N242D probably benign Het
Dtx3l T C 16: 35,756,949 (GRCm39) N78S probably benign Het
Dync2h1 A G 9: 6,955,905 (GRCm39) probably null Het
Esrp1 A G 4: 11,365,211 (GRCm39) V260A probably damaging Het
Etfdh A G 3: 79,511,349 (GRCm39) V544A probably benign Het
Ezhip T G X: 5,994,754 (GRCm39) E87A probably benign Het
Fcgr1 G T 3: 96,193,233 (GRCm39) H255N possibly damaging Het
Fcrl2 G T 3: 87,164,655 (GRCm39) Y290* probably null Het
Frem2 A G 3: 53,559,935 (GRCm39) V1524A probably damaging Het
Gabbr1 T C 17: 37,382,758 (GRCm39) I817T probably damaging Het
Gapdhs G C 7: 30,429,333 (GRCm39) probably null Het
Gm57858 A G 3: 36,074,099 (GRCm39) V350A probably benign Het
Gopc A T 10: 52,225,181 (GRCm39) I356K probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Gpr171 A G 3: 59,005,628 (GRCm39) V49A probably benign Het
Greb1l T A 18: 10,554,857 (GRCm39) N1634K probably damaging Het
Gria1 G A 11: 57,076,775 (GRCm39) R57H probably damaging Het
Herpud1 A G 8: 95,121,241 (GRCm39) E344G probably benign Het
Hhip A G 8: 80,771,810 (GRCm39) F167L probably damaging Het
Hp1bp3 T A 4: 137,953,209 (GRCm39) D84E probably damaging Het
Ier3 A G 17: 36,133,153 (GRCm39) Y145C probably damaging Het
Ifi47 A T 11: 48,987,474 (GRCm39) I414L probably benign Het
Ifnl2 C T 7: 28,209,638 (GRCm39) A50T possibly damaging Het
Jade1 A G 3: 41,546,185 (GRCm39) Y70C probably damaging Het
Kif1b A T 4: 149,359,454 (GRCm39) F94L probably damaging Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Mrgpra4 A G 7: 47,631,523 (GRCm39) L26S possibly damaging Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nae1 T A 8: 105,256,700 (GRCm39) D69V probably damaging Het
Nbr1 T A 11: 101,463,643 (GRCm39) V625E possibly damaging Het
Ntf3 T C 6: 126,078,689 (GRCm39) *272W probably null Het
Ofcc1 A C 13: 40,248,181 (GRCm39) L651R probably damaging Het
Olfm3 A T 3: 114,915,842 (GRCm39) probably null Het
Pcdhb19 C T 18: 37,630,997 (GRCm39) A264V probably benign Het
Pear1 C A 3: 87,659,493 (GRCm39) W780C probably damaging Het
Pkhd1 T A 1: 20,635,863 (GRCm39) H489L probably benign Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Rbm10 G A X: 20,501,978 (GRCm39) R9H unknown Het
Rwdd1 T C 10: 33,878,466 (GRCm39) E123G probably damaging Het
Slc22a2 G T 17: 12,818,062 (GRCm39) V213F probably damaging Het
Slc34a1 T C 13: 24,004,991 (GRCm39) I412T probably benign Het
Smarca2 A T 19: 26,748,438 (GRCm39) I98L probably benign Het
Spag6l T C 16: 16,595,203 (GRCm39) E394G probably damaging Het
Spdef T C 17: 27,939,269 (GRCm39) T26A probably benign Het
Stk17b T C 1: 53,815,731 (GRCm39) I23V probably benign Het
Sult2a7 A G 7: 14,225,818 (GRCm39) I56T probably damaging Het
Tango6 T A 8: 107,415,926 (GRCm39) probably null Het
Tex46 T C 4: 136,337,844 (GRCm39) L12P possibly damaging Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Unc5cl T A 17: 48,766,974 (GRCm39) I116N possibly damaging Het
Unc80 A T 1: 66,657,417 (GRCm39) I1630F possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Whrn C T 4: 63,336,385 (GRCm39) V295M possibly damaging Het
Wrn G A 8: 33,819,230 (GRCm39) P241S probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp687 A T 3: 94,917,748 (GRCm39) C675S probably damaging Het
Zfp954 A G 7: 7,118,321 (GRCm39) Y408H possibly 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
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
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
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'- AGGATGGAAGTTTAACTGATACCC -3'
(R):5'- AAGATACTTCATGCCCATCCTC -3'

Sequencing Primer
(F):5'- CTGTTTCAGAGTAAGCGAGAAATCC -3'
(R):5'- GGATGCCCATAATTCTACCTC -3'
Posted On 2014-10-16