Incidental Mutation 'R1606:Nek1'
ID 176485
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 039643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1606 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61577310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1097 (D1097G)
Ref Sequence ENSEMBL: ENSMUSP00000034065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect possibly damaging
Transcript: ENSMUST00000034065
AA Change: D1097G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: D1097G

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: D1125G

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: D1125G

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: ENSMUST00000129408
Predicted Effect probably benign
Transcript: ENSMUST00000211256
AA Change: D1072G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000211672
AA Change: D1169G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,825,091 (GRCm39) D1459G probably damaging Het
Adhfe1 G A 1: 9,623,698 (GRCm39) probably null Het
Adsl C T 15: 80,836,425 (GRCm39) Q61* probably null Het
Arhgap26 T A 18: 39,429,925 (GRCm39) C214S probably damaging Het
Armc8 A T 9: 99,419,782 (GRCm39) N9K probably damaging Het
Asxl1 A G 2: 153,242,375 (GRCm39) D975G probably damaging Het
Atp8b3 T C 10: 80,368,412 (GRCm39) E187G probably damaging Het
Bltp1 G A 3: 36,996,548 (GRCm39) D1087N probably damaging Het
Cdcp2 T C 4: 106,959,710 (GRCm39) S42P probably damaging Het
Chek1 A G 9: 36,630,820 (GRCm39) L198P probably damaging Het
Dlc1 A G 8: 37,317,406 (GRCm39) V423A probably benign Het
Dpy19l2 A G 9: 24,492,511 (GRCm39) S696P probably benign Het
Echdc3 A T 2: 6,200,438 (GRCm39) C183S possibly damaging Het
Exph5 A C 9: 53,285,595 (GRCm39) D892A probably benign Het
Fam120b T A 17: 15,622,073 (GRCm39) I17K possibly damaging Het
Fbln5 C T 12: 101,731,457 (GRCm39) D246N probably benign Het
Fbxo15 A C 18: 84,980,745 (GRCm39) K195T possibly damaging Het
Fzd1 C A 5: 4,807,514 (GRCm39) E23* probably null Het
Gas2l1 C A 11: 5,014,434 (GRCm39) A9S probably damaging Het
Gcc2 C T 10: 58,105,270 (GRCm39) L69F probably damaging Het
Ggt6 C T 11: 72,328,559 (GRCm39) A353V possibly damaging Het
Gphn T A 12: 78,730,657 (GRCm39) V764E probably damaging Het
Grid1 A T 14: 35,167,922 (GRCm39) Y482F probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifit1bl1 C T 19: 34,571,444 (GRCm39) V338M probably benign Het
Klhl14 T A 18: 21,698,589 (GRCm39) Q408L possibly damaging Het
Lacc1 T A 14: 77,267,081 (GRCm39) Q394L probably benign Het
Lcor T G 19: 41,573,513 (GRCm39) M756R probably benign Het
Lipe A G 7: 25,087,569 (GRCm39) F477L probably damaging Het
Lrig2 A G 3: 104,387,423 (GRCm39) probably null Het
Megf8 T A 7: 25,058,120 (GRCm39) H2131Q probably damaging Het
Nhlrc3 A T 3: 53,366,078 (GRCm39) Y138* probably null Het
Nudcd2 T A 11: 40,626,834 (GRCm39) probably null Het
Numb T C 12: 83,847,784 (GRCm39) probably null Het
Or7h8 T G 9: 20,124,242 (GRCm39) L199R probably benign Het
Pacrg G A 17: 11,058,725 (GRCm39) Q11* probably null Het
Ppp1r37 A T 7: 19,268,924 (GRCm39) M192K probably damaging Het
Prmt8 T A 6: 127,666,799 (GRCm39) K392* probably null Het
Rab28 A T 5: 41,855,795 (GRCm39) W67R probably damaging Het
Rad21l C T 2: 151,496,606 (GRCm39) C365Y probably damaging Het
Rbm17 A T 2: 11,600,208 (GRCm39) F147I probably benign Het
Rbm46 A C 3: 82,771,848 (GRCm39) F256V probably damaging Het
Rcc1 A T 4: 132,062,087 (GRCm39) probably null Het
Rnf217 G T 10: 31,410,807 (GRCm39) T296N possibly damaging Het
Rnmt A G 18: 68,444,724 (GRCm39) D231G possibly damaging Het
Rph3al C T 11: 75,797,367 (GRCm39) V110I probably damaging Het
Rxfp2 T C 5: 149,983,362 (GRCm39) M289T probably benign Het
Sash1 T C 10: 8,605,721 (GRCm39) R890G probably benign Het
Sf3b2 A T 19: 5,338,026 (GRCm39) D245E probably benign Het
Skint9 A T 4: 112,246,398 (GRCm39) V238E probably benign Het
Slc26a8 T A 17: 28,857,455 (GRCm39) D896V possibly damaging Het
Slc35b4 T A 6: 34,135,323 (GRCm39) K330* probably null Het
Slco1a4 G T 6: 141,785,337 (GRCm39) H84Q probably damaging Het
Sptbn2 G T 19: 4,800,270 (GRCm39) probably null Het
St6galnac3 A T 3: 152,912,305 (GRCm39) D227E probably benign Het
Tek G A 4: 94,738,004 (GRCm39) D685N probably damaging Het
Trf G T 9: 103,102,335 (GRCm39) probably null Het
Trpm5 T A 7: 142,638,908 (GRCm39) K288* probably null Het
Ttn C T 2: 76,567,356 (GRCm39) V27846I probably damaging Het
Tyr A T 7: 87,087,179 (GRCm39) D444E probably benign Het
Ucp1 C A 8: 84,021,933 (GRCm39) A255E probably damaging Het
Ush2a A G 1: 188,491,963 (GRCm39) D3084G probably benign Het
Yeats4 T C 10: 117,053,344 (GRCm39) Y139C probably damaging Het
Zbtb6 A G 2: 37,319,130 (GRCm39) V266A probably benign Het
Zfp784 A T 7: 5,038,774 (GRCm39) N261K 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
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'- GAGTCTCCTCTGCAAATCAGCACC -3'
(R):5'- AACTGAGAAGCGGTTGGTATGTCTG -3'

Sequencing Primer
(F):5'- ATAGTTGCAGAGTACCCCTCG -3'
(R):5'- TGTGGAACACACAGTGAGC -3'
Posted On 2014-04-24