Incidental Mutation 'R1480:Nek1'
ID 164302
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 039533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1480 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 61577360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect probably null
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 null
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 null
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 probably null
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: ENSMUST00000129408
Predicted Effect probably null
Transcript: ENSMUST00000211256
Predicted Effect probably null
Transcript: ENSMUST00000211672
Predicted Effect probably null
Transcript: ENSMUST00000211672
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,409 (GRCm39) R126C possibly damaging Het
Abcb9 C A 5: 124,216,889 (GRCm39) A443S probably benign Het
Adcy3 A G 12: 4,262,171 (GRCm39) M1074V probably damaging Het
Adnp A G 2: 168,025,454 (GRCm39) Y614H probably damaging Het
Agbl4 G A 4: 111,423,914 (GRCm39) M313I possibly damaging Het
AI987944 T C 7: 41,024,343 (GRCm39) D212G probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aplp1 A G 7: 30,135,448 (GRCm39) S537P probably benign Het
Arap2 T A 5: 62,826,472 (GRCm39) R1031* probably null Het
Arid1a A G 4: 133,407,700 (GRCm39) M2269T unknown Het
Ash1l C A 3: 88,892,359 (GRCm39) P1413T probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt5 A T 16: 19,588,617 (GRCm39) I279L probably damaging Het
Camkk2 T C 5: 122,872,341 (GRCm39) probably null Het
Ccdc158 T C 5: 92,796,903 (GRCm39) K478E probably damaging Het
Ces1f T C 8: 94,000,782 (GRCm39) I121V probably benign Het
Chad A T 11: 94,455,963 (GRCm39) probably benign Het
Col6a1 T C 10: 76,545,752 (GRCm39) I907V unknown Het
Cpe T A 8: 65,047,969 (GRCm39) T432S probably benign Het
Csmd3 T C 15: 47,595,325 (GRCm39) T1941A possibly damaging Het
Dennd3 G A 15: 73,404,695 (GRCm39) V257I probably benign Het
Dnajc21 T C 15: 10,460,037 (GRCm39) probably null Het
Dqx1 A G 6: 83,036,433 (GRCm39) R146G possibly damaging Het
Etf1 T C 18: 35,042,276 (GRCm39) E261G probably damaging Het
Fermt2 C T 14: 45,699,244 (GRCm39) V617I possibly damaging Het
Gabarap T C 11: 69,882,551 (GRCm39) Y5H probably damaging Het
Gdap1 A G 1: 17,215,781 (GRCm39) Y29C probably damaging Het
Gimap5 A G 6: 48,729,964 (GRCm39) E178G probably damaging Het
Gpatch1 C T 7: 35,002,763 (GRCm39) G249E probably damaging Het
Gse1 T G 8: 121,299,133 (GRCm39) probably benign Het
Kifc3 T C 8: 95,836,515 (GRCm39) D82G probably damaging Het
Kit G A 5: 75,797,977 (GRCm39) D422N probably benign Het
Klhl28 A T 12: 65,003,995 (GRCm39) F173I probably damaging Het
Klk1b22 A G 7: 43,766,278 (GRCm39) D253G possibly damaging Het
Lias T A 5: 65,549,634 (GRCm39) H39Q probably benign Het
Lrp1b T A 2: 40,793,401 (GRCm39) D2504V probably damaging Het
Mgat5 A T 1: 127,387,716 (GRCm39) R557S probably damaging Het
Mrpl54 T C 10: 81,101,489 (GRCm39) T91A probably benign Het
Myh3 T A 11: 66,984,371 (GRCm39) D1069E possibly damaging Het
Nfyc A C 4: 120,625,921 (GRCm39) probably null Het
Nol7 A T 13: 43,552,104 (GRCm39) E75V probably damaging Het
Nomo1 T A 7: 45,710,337 (GRCm39) V606E probably damaging Het
Npat TGGTAAAA T 9: 53,474,366 (GRCm39) probably null Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Ogdh A T 11: 6,297,827 (GRCm39) probably null Het
Or1o4 A G 17: 37,590,636 (GRCm39) V225A probably benign Het
Parg A T 14: 31,931,585 (GRCm39) K402* probably null Het
Patj G A 4: 98,357,819 (GRCm39) G695E probably damaging Het
Pde3a G A 6: 141,433,300 (GRCm39) S777N probably benign Het
Phactr2 G A 10: 13,129,536 (GRCm39) P174L possibly damaging Het
Phtf1 C T 3: 103,894,750 (GRCm39) R113* probably null Het
Pik3r4 G T 9: 105,564,443 (GRCm39) V1346L probably benign Het
Prkcb T C 7: 122,193,865 (GRCm39) W525R probably damaging Het
Prl8a1 C T 13: 27,758,055 (GRCm39) R218H possibly damaging Het
Pum3 T C 19: 27,376,310 (GRCm39) E536G probably benign Het
Rb1 T C 14: 73,500,042 (GRCm39) N535S probably benign Het
Rbm7 G T 9: 48,401,016 (GRCm39) D237E probably benign Het
Ripor1 T C 8: 106,342,180 (GRCm39) V122A probably damaging Het
Sdhc C T 1: 170,973,370 (GRCm39) R11H probably benign Het
Sema3c A G 5: 17,887,029 (GRCm39) N360S possibly damaging Het
Serpinb5 T A 1: 106,809,437 (GRCm39) M281K probably benign Het
Serpinc1 A G 1: 160,822,889 (GRCm39) E210G probably benign Het
Shoc2 T C 19: 53,976,202 (GRCm39) S31P probably benign Het
Sult2a3 T A 7: 13,856,836 (GRCm39) N28I possibly damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Tacc3 G A 5: 33,821,941 (GRCm39) V234I probably benign Het
Tacr1 A T 6: 82,469,511 (GRCm39) M132L possibly damaging Het
Tas2r104 C A 6: 131,662,257 (GRCm39) V151F probably benign Het
Tbc1d10b C T 7: 126,802,950 (GRCm39) S326N probably benign Het
Trim12c C T 7: 103,997,451 (GRCm39) C35Y probably damaging Het
Trrap T C 5: 144,755,123 (GRCm39) I2067T probably benign Het
Upk1a T C 7: 30,306,311 (GRCm39) I152V probably benign Het
Vmn2r39 T G 7: 9,017,955 (GRCm39) T794P probably damaging Het
Wnk2 G A 13: 49,210,708 (GRCm39) P1704S probably damaging Het
Zfp609 T C 9: 65,610,593 (GRCm39) E790G possibly damaging Het
Zmym1 G T 4: 126,942,405 (GRCm39) T563K probably damaging Het
Zranb1 T A 7: 132,551,745 (GRCm39) F132Y probably benign Het
Zranb3 C T 1: 128,019,599 (GRCm39) A48T 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
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
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'- GAGTCTCCTCTGCAAATCAGCACC -3'
(R):5'- AACTGAGAAGCGGTTGGTATGTCTG -3'

Sequencing Primer
(F):5'- ATAGTTGCAGAGTACCCCTCG -3'
(R):5'- GTGTGGAACACACAGTGAGC -3'
Posted On 2014-03-28