Incidental Mutation 'R2113:Nek1'
ID 232783
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 040117-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2113 (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 61469327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 128 (D128G)
Ref Sequence ENSEMBL: ENSMUSP00000147809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]
AlphaFold P51954
Predicted Effect probably damaging
Transcript: ENSMUST00000034065
AA Change: D128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: D128G

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: D128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: D128G

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: ENSMUST00000125717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155664
Predicted Effect probably damaging
Transcript: ENSMUST00000211256
AA Change: D128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211672
AA Change: D128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 127 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,655,790 (GRCm39) G295* probably null Het
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Actn4 C T 7: 28,597,549 (GRCm39) G608D probably benign Het
Adcyap1r1 T A 6: 55,458,100 (GRCm39) N300K probably damaging Het
Adh5 A G 3: 138,157,245 (GRCm39) I269V probably benign Het
Afap1l2 G A 19: 56,901,821 (GRCm39) A842V possibly damaging Het
AI429214 A T 8: 37,461,154 (GRCm39) K101* probably null Het
Alg10b T A 15: 90,109,860 (GRCm39) W58R probably damaging Het
Alpk2 C T 18: 65,438,754 (GRCm39) E1347K probably benign Het
Amotl2 G T 9: 102,601,922 (GRCm39) E389* probably null Het
Ap5m1 G A 14: 49,323,705 (GRCm39) R465Q probably damaging Het
Apoa1 A C 9: 46,140,512 (GRCm39) S48R probably damaging Het
Asb1 T C 1: 91,471,950 (GRCm39) L34P probably damaging Het
Atg14 C T 14: 47,788,781 (GRCm39) A191T probably damaging Het
Atp13a4 C T 16: 29,260,102 (GRCm39) V235I possibly damaging Het
Atrnl1 C T 19: 57,744,048 (GRCm39) Q1217* probably null Het
Bltp2 T C 11: 78,159,598 (GRCm39) V549A probably benign Het
Bsn A T 9: 107,992,085 (GRCm39) H1222Q probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cbx4 C T 11: 118,972,718 (GRCm39) G219E probably damaging Het
Ccdc136 C T 6: 29,413,031 (GRCm39) T406I possibly damaging Het
Celsr3 A T 9: 108,715,669 (GRCm39) Y2117F probably damaging Het
Cenpf T A 1: 189,411,299 (GRCm39) Q295L probably damaging Het
Ces1b A G 8: 93,794,783 (GRCm39) V272A probably benign Het
Cgn A T 3: 94,687,116 (GRCm39) V62D probably damaging Het
Ckap4 T G 10: 84,369,387 (GRCm39) Q115P possibly damaging Het
Clec10a T C 11: 70,060,650 (GRCm39) probably null Het
Clmn A T 12: 104,747,067 (GRCm39) S827T probably benign Het
Cntn4 T C 6: 106,466,658 (GRCm39) S187P probably damaging Het
Cntnap5a A T 1: 116,116,095 (GRCm39) I526F probably damaging Het
Cntnap5b A G 1: 100,202,140 (GRCm39) Q329R probably benign Het
Col1a1 T A 11: 94,839,188 (GRCm39) S979T unknown Het
Crat T A 2: 30,292,654 (GRCm39) Y606F probably benign Het
Cyp2c29 G T 19: 39,318,708 (GRCm39) C396F probably damaging Het
Cyp2d34 G T 15: 82,501,817 (GRCm39) P231Q probably damaging Het
Ddi2 A T 4: 141,430,591 (GRCm39) probably null Het
Dicer1 A T 12: 104,679,473 (GRCm39) H501Q probably damaging Het
Dnah12 A G 14: 26,488,098 (GRCm39) I1001V probably damaging Het
Dnase2a T A 8: 85,637,500 (GRCm39) C301S probably damaging Het
Dock10 T A 1: 80,584,280 (GRCm39) D142V probably damaging Het
Dpp8 G A 9: 64,971,150 (GRCm39) C590Y probably benign Het
Dst T A 1: 34,314,317 (GRCm39) M6707K probably damaging Het
Duox1 T C 2: 122,167,735 (GRCm39) V1006A probably benign Het
Dync1h1 T C 12: 110,596,420 (GRCm39) S1623P probably damaging Het
Ehmt1 A T 2: 24,694,015 (GRCm39) D1011E probably damaging Het
Epc2 T A 2: 49,422,235 (GRCm39) D376E probably benign Het
Eps8 C A 6: 137,514,633 (GRCm39) probably null Het
F11 T C 8: 45,699,869 (GRCm39) T406A probably benign Het
Fat3 T G 9: 15,911,082 (GRCm39) D1640A probably damaging Het
Fbxo15 A T 18: 84,977,230 (GRCm39) R47S probably benign Het
Fbxo28 A T 1: 182,157,490 (GRCm39) V109E probably damaging Het
Fn1 A T 1: 71,665,323 (GRCm39) S931R probably damaging Het
Fndc3b T C 3: 27,697,185 (GRCm39) D9G probably damaging Het
Frem2 G A 3: 53,560,343 (GRCm39) T1388I probably damaging Het
Fstl3 C A 10: 79,617,012 (GRCm39) T185N probably damaging Het
Glo1 A T 17: 30,823,014 (GRCm39) Y49* probably null Het
Gtsf2 T C 15: 103,348,100 (GRCm39) M137V probably benign Het
Gzmk C T 13: 113,310,489 (GRCm39) G110S probably benign Het
Hdac9 G T 12: 34,439,331 (GRCm39) S428R probably damaging Het
Hnrnpul1 G A 7: 25,432,694 (GRCm39) T456I possibly damaging Het
Ino80 T A 2: 119,284,565 (GRCm39) H172L probably damaging Het
Itgb8 A C 12: 119,154,347 (GRCm39) L230R probably damaging Het
Klf9 C T 19: 23,142,052 (GRCm39) R171W probably damaging Het
Kmt2b G T 7: 30,282,812 (GRCm39) P1050Q probably damaging Het
Krt15 A T 11: 100,026,484 (GRCm39) F67L unknown Het
Maml3 T A 3: 51,598,077 (GRCm39) Y223F probably damaging Het
Mcm9 C T 10: 53,491,943 (GRCm39) probably null Het
Mettl3 A G 14: 52,532,441 (GRCm39) *104Q probably null Het
Msrb3 T A 10: 120,687,985 (GRCm39) D30V possibly damaging Het
Mycbp2 T C 14: 103,457,512 (GRCm39) T1562A probably damaging Het
Nat14 T C 7: 4,927,038 (GRCm39) V70A possibly damaging Het
Nbeal2 T C 9: 110,454,474 (GRCm39) T2685A probably damaging Het
Nfam1 T A 15: 82,899,202 (GRCm39) K155* probably null Het
Noc4l A T 5: 110,798,425 (GRCm39) M255K possibly damaging Het
Nolc1 GCA GCAACA 19: 46,069,800 (GRCm39) probably benign Het
Nolc1 CAG CAGGAG 19: 46,069,798 (GRCm39) probably benign Het
Nprl2 T C 9: 107,422,511 (GRCm39) S334P probably benign Het
Nsrp1 A G 11: 76,937,396 (GRCm39) S267P probably benign Het
Ntn4 A T 10: 93,480,701 (GRCm39) M142L probably damaging Het
Nup188 T A 2: 30,194,113 (GRCm39) C139* probably null Het
Nup210l A T 3: 90,098,281 (GRCm39) N1411I possibly damaging Het
Or10g1 A G 14: 52,647,753 (GRCm39) L192P probably damaging Het
Or5ak24 T G 2: 85,260,430 (GRCm39) T248P probably damaging Het
Pard3 A T 8: 128,115,018 (GRCm39) T579S probably damaging Het
Pcnx3 G T 19: 5,721,584 (GRCm39) D1071E possibly damaging Het
Pi4k2a T A 19: 42,103,510 (GRCm39) I340N possibly damaging Het
Pkdrej T A 15: 85,703,185 (GRCm39) D917V probably damaging Het
Plekhg4 T A 8: 106,106,066 (GRCm39) F821Y probably damaging Het
Ptgfrn C T 3: 100,984,625 (GRCm39) R189H probably benign Het
Ptpn18 T A 1: 34,510,742 (GRCm39) S235R probably damaging Het
Rabep2 A G 7: 126,044,460 (GRCm39) probably null Het
Rbp3 T G 14: 33,678,014 (GRCm39) I654S probably benign Het
Rimbp3 T C 16: 17,027,539 (GRCm39) L321P probably benign Het
Rims2 T A 15: 39,374,722 (GRCm39) M1028K probably benign Het
Ruvbl1 T A 6: 88,460,003 (GRCm39) V221D probably damaging Het
Ruvbl2 A T 7: 45,073,527 (GRCm39) probably null Het
Scn7a C T 2: 66,506,312 (GRCm39) D1526N probably damaging Het
Scnn1a T C 6: 125,314,774 (GRCm39) F218S possibly damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Slain1 C A 14: 103,888,282 (GRCm39) D67E possibly damaging Het
Snx33 T C 9: 56,833,724 (GRCm39) D115G probably benign Het
Sowaha G A 11: 53,369,789 (GRCm39) R316C probably damaging Het
Spata17 A T 1: 186,830,108 (GRCm39) F309I possibly damaging Het
Spmip7 G A 11: 11,440,293 (GRCm39) probably null Het
Ssrp1 G T 2: 84,873,350 (GRCm39) probably null Het
St6gal1 C G 16: 23,147,167 (GRCm39) T225S probably damaging Het
Sulf1 C G 1: 12,918,398 (GRCm39) F38L probably damaging Het
Tbc1d7 G A 13: 43,306,562 (GRCm39) T138M probably damaging Het
Tdpoz4 T A 3: 93,704,351 (GRCm39) M216K probably damaging Het
Tmem200a A G 10: 25,869,220 (GRCm39) S350P probably damaging Het
Tnpo3 A T 6: 29,551,871 (GRCm39) D903E probably benign Het
Trpc4ap A T 2: 155,499,856 (GRCm39) I222N probably damaging Het
Trrap T A 5: 144,781,021 (GRCm39) Y3261N probably damaging Het
Ttn A G 2: 76,542,954 (GRCm39) V33344A possibly damaging Het
Uchl4 A T 9: 64,142,818 (GRCm39) T100S probably damaging Het
Uxs1 A G 1: 43,810,933 (GRCm39) Y97H probably damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vmn2r88 T C 14: 51,655,651 (GRCm39) L621P probably damaging Het
Vps45 A T 3: 95,954,365 (GRCm39) M174K probably benign Het
Wdr72 A T 9: 74,052,454 (GRCm39) M162L probably benign Het
Wdr81 T A 11: 75,344,461 (GRCm39) M269L probably benign Het
Zfp53 A G 17: 21,728,713 (GRCm39) T249A probably benign Het
Zfp758 T C 17: 22,580,626 (GRCm39) S22P probably benign Het
Zfp780b T C 7: 27,663,298 (GRCm39) D419G possibly damaging Het
Zfp934 A T 13: 62,666,507 (GRCm39) Y45N 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
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
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'- CATTTCCGTTGTCAGTTGGC -3'
(R):5'- TTCTGTCATAGCCAAACAATCAATC -3'

Sequencing Primer
(F):5'- CAGTTGGCTTGAATACCTACTAGTG -3'
(R):5'- CGACATCGGGTATCTGAGTGAGC -3'
Posted On 2014-09-18