Incidental Mutation 'R1466:Nek1'
ID 201190
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1466 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 61578170 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: ENSMUST00000129408
Predicted Effect probably benign
Transcript: ENSMUST00000211256
Predicted Effect probably benign
Transcript: ENSMUST00000211672
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.4%
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: 134 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,520,536 (GRCm39) probably benign Het
Abcg8 G C 17: 84,994,155 (GRCm39) probably benign Het
Abhd15 C T 11: 77,406,236 (GRCm39) A71V probably damaging Het
AC167973.1 A T 9: 43,176,649 (GRCm39) noncoding transcript Het
Adamts12 T C 15: 11,311,445 (GRCm39) F1234S probably benign Het
Ahnak A G 19: 8,993,239 (GRCm39) D4841G probably damaging Het
Akap13 T C 7: 75,378,797 (GRCm39) S2095P possibly damaging Het
Ampd2 T C 3: 107,987,653 (GRCm39) probably null Het
Arhgef17 G T 7: 100,578,866 (GRCm39) P694Q possibly damaging Het
Arrdc1 T C 2: 24,815,807 (GRCm39) I398V probably benign Het
Ash1l T C 3: 88,959,372 (GRCm39) Y2250H probably damaging Het
Aspg A G 12: 112,088,286 (GRCm39) N385D probably benign Het
Atxn3 G A 12: 101,892,758 (GRCm39) R319C possibly damaging Het
Brca2 G A 5: 150,475,723 (GRCm39) A2478T probably damaging Het
Btrc T A 19: 45,501,821 (GRCm39) probably benign Het
C1s1 C T 6: 124,508,090 (GRCm39) C633Y probably damaging Het
C8g C T 2: 25,390,228 (GRCm39) A6T probably benign Het
Capza2 T C 6: 17,657,158 (GRCm39) probably benign Het
Cbl A T 9: 44,065,541 (GRCm39) V706E probably benign Het
Ccdc121rt3 C T 5: 112,502,630 (GRCm39) G358D probably benign Het
Cenatac A T 9: 44,324,977 (GRCm39) probably benign Het
Cfhr1 C T 1: 139,485,312 (GRCm39) E45K probably benign Het
Chd7 G A 4: 8,840,561 (GRCm39) probably null Het
Chek1 G T 9: 36,637,153 (GRCm39) A2E probably damaging Het
Clcn2 G A 16: 20,531,302 (GRCm39) probably benign Het
Cndp2 G A 18: 84,695,440 (GRCm39) probably benign Het
Cntnap1 C A 11: 101,071,186 (GRCm39) F366L probably damaging Het
Col5a1 G T 2: 27,893,858 (GRCm39) probably benign Het
Corin C T 5: 72,460,133 (GRCm39) probably null Het
Crb2 T C 2: 37,673,400 (GRCm39) Y99H probably damaging Het
Csf3r T A 4: 125,925,725 (GRCm39) probably benign Het
Ctdspl2 G A 2: 121,834,410 (GRCm39) R332K probably benign Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cym G A 3: 107,120,774 (GRCm39) T277I probably damaging Het
Cyp2d11 C T 15: 82,275,936 (GRCm39) C215Y probably benign Het
Dido1 G A 2: 180,304,121 (GRCm39) P1261L probably damaging Het
Dnah10 T A 5: 124,840,160 (GRCm39) Y1265N probably benign Het
Dtx3l G A 16: 35,753,098 (GRCm39) L503F probably damaging Het
Eda T A X: 99,435,998 (GRCm39) probably benign Homo
Efhb A G 17: 53,744,206 (GRCm39) F462L probably damaging Het
Enpep T A 3: 129,113,097 (GRCm39) T203S probably damaging Het
Exd1 G A 2: 119,351,215 (GRCm39) probably benign Het
Fam184b G A 5: 45,737,851 (GRCm39) probably benign Het
Fam20b T C 1: 156,513,758 (GRCm39) probably benign Het
Fat3 A C 9: 16,286,778 (GRCm39) V915G probably damaging Het
Fbln7 A G 2: 128,719,349 (GRCm39) T49A probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgf14 T A 14: 124,913,951 (GRCm39) K60M probably benign Het
Galnt4 A G 10: 98,944,571 (GRCm39) R99G probably benign Het
Gimap4 C A 6: 48,668,216 (GRCm39) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm39) T6I probably damaging Het
Gm10110 A T 14: 90,135,511 (GRCm39) noncoding transcript Het
Gm4884 A G 7: 40,692,552 (GRCm39) K174E probably damaging Het
Grip2 A T 6: 91,765,424 (GRCm39) D19E probably damaging Het
Grk4 T C 5: 34,852,094 (GRCm39) S113P probably benign Het
Hectd3 G A 4: 116,853,763 (GRCm39) E220K probably damaging Het
Helz2 G A 2: 180,878,090 (GRCm39) P903S probably damaging Het
Hydin T A 8: 111,259,585 (GRCm39) V2519E possibly damaging Het
Igf2r A T 17: 12,936,156 (GRCm39) probably benign Het
Ints11 G A 4: 155,972,567 (GRCm39) probably null Het
Kif1a A G 1: 92,982,651 (GRCm39) W718R possibly damaging Het
Kif1b A T 4: 149,307,709 (GRCm39) Y839N probably damaging Het
Kif20b T A 19: 34,927,999 (GRCm39) V1047D probably benign Het
Klhl23 T C 2: 69,664,232 (GRCm39) I527T probably damaging Het
Klra10 T A 6: 130,256,278 (GRCm39) R125S probably damaging Het
Klra10 T C 6: 130,256,394 (GRCm39) N87D probably damaging Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lcn4 G A 2: 26,558,588 (GRCm39) P166L probably damaging Het
Letmd1 T A 15: 100,370,423 (GRCm39) probably null Het
Lrrc27 A G 7: 138,810,224 (GRCm39) probably benign Het
Map4k2 G T 19: 6,391,947 (GRCm39) W87L probably damaging Het
Mccc1 A G 3: 36,028,435 (GRCm39) V457A probably benign Het
Mdn1 T A 4: 32,730,788 (GRCm39) S2886T probably benign Het
Mgat4a A T 1: 37,503,487 (GRCm39) probably benign Het
Mmp1b A T 9: 7,384,779 (GRCm39) probably benign Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Mrpl24 T A 3: 87,829,235 (GRCm39) Y21* probably null Het
Mrps35 C T 6: 146,957,482 (GRCm39) T169M probably damaging Het
Mtcl1 T A 17: 66,687,430 (GRCm39) D492V probably damaging Het
Muc2 A G 7: 141,302,711 (GRCm39) Y457C probably damaging Het
Muc4 G A 16: 32,574,886 (GRCm39) G1157D probably benign Het
Myg1 T A 15: 102,245,825 (GRCm39) L275Q probably damaging Het
Naga T A 15: 82,218,989 (GRCm39) M237L probably null Het
Oc90 T A 15: 65,769,569 (GRCm39) Y96F probably damaging Het
Or12d13 A T 17: 37,647,847 (GRCm39) L92H probably benign Het
Or13a18 A G 7: 140,190,882 (GRCm39) I268V probably benign Het
Or4a80 C T 2: 89,582,611 (GRCm39) C187Y probably damaging Het
Or5m11b T A 2: 85,806,339 (GRCm39) F251I probably damaging Het
Or6ae1 A G 7: 139,742,116 (GRCm39) V249A probably damaging Het
Orc4 A T 2: 48,799,506 (GRCm39) C324S possibly damaging Het
Pald1 T C 10: 61,184,304 (GRCm39) probably benign Het
Paox A G 7: 139,709,194 (GRCm39) probably benign Het
Pcdh10 T G 3: 45,334,409 (GRCm39) L241R probably damaging Het
Pdzrn4 T C 15: 92,668,418 (GRCm39) S857P probably benign Het
Plec C T 15: 76,070,108 (GRCm39) E1000K possibly damaging Het
Plvap A T 8: 71,961,125 (GRCm39) V149D probably benign Het
Ppef1 C A X: 159,408,670 (GRCm39) probably null Homo
Prkaa1 C A 15: 5,208,279 (GRCm39) P507T probably benign Het
Psmd2 A G 16: 20,476,715 (GRCm39) probably benign Het
Ptch1 A G 13: 63,672,783 (GRCm39) Y804H probably benign Het
R3hdm2 A G 10: 127,312,559 (GRCm39) I434V probably benign Het
Rbm28 G A 6: 29,155,016 (GRCm39) probably benign Het
Rfx5 T A 3: 94,863,614 (GRCm39) Y88N probably damaging Het
Rnase2b A T 14: 51,400,296 (GRCm39) K126* probably null Het
Rpl3l A G 17: 24,949,845 (GRCm39) I15V probably benign Het
Saal1 G T 7: 46,351,969 (GRCm39) probably null Het
Sbpl A C 17: 24,172,228 (GRCm39) D230E unknown Het
Scn10a T C 9: 119,495,556 (GRCm39) Y322C probably damaging Het
Sec16a A T 2: 26,321,169 (GRCm39) Y1308N probably damaging Het
Sis A T 3: 72,839,393 (GRCm39) D824E possibly damaging Het
Slc25a36 A G 9: 96,962,408 (GRCm39) F194L probably damaging Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Slc7a11 G T 3: 50,335,522 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,897 (GRCm39) S322T probably damaging Het
Smarcc2 A T 10: 128,310,114 (GRCm39) T376S probably damaging Het
Srebf1 C T 11: 60,091,528 (GRCm39) R999H probably benign Het
St3gal3 A C 4: 117,964,859 (GRCm39) M1R probably null Het
Syp A T X: 7,514,944 (GRCm39) probably benign Homo
Tas1r2 A G 4: 139,396,722 (GRCm39) D687G probably damaging Het
Tekt4 A T 17: 25,691,048 (GRCm39) Q118L probably benign Het
Thoc2l T A 5: 104,666,123 (GRCm39) I215N probably damaging Het
Tph2 T C 10: 114,915,600 (GRCm39) N480S probably benign Het
Tsc2 A T 17: 24,827,947 (GRCm39) M839K probably damaging Het
Ttc22 T C 4: 106,479,977 (GRCm39) F77S probably damaging Het
Uaca C T 9: 60,761,603 (GRCm39) A205V possibly damaging Het
Ubp1 T G 9: 113,773,903 (GRCm39) probably benign Het
Uhmk1 A T 1: 170,036,222 (GRCm39) probably null Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vwa3a A G 7: 120,367,388 (GRCm39) Y181C probably damaging Het
Wdr26 C T 1: 181,013,499 (GRCm39) probably benign Het
Wfikkn2 G A 11: 94,129,721 (GRCm39) T140I probably damaging Het
Zfp704 G T 3: 9,512,408 (GRCm39) T288N possibly damaging Het
Zfp93 T C 7: 23,975,521 (GRCm39) V502A probably damaging Het
Zzef1 C T 11: 72,815,505 (GRCm39) P2942S 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
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
Posted On 2014-05-23