Incidental Mutation 'R4677:Nek1'
ID 349666
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 042014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4677 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 61446229-61584380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61481840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 252 (I252L)
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: I252L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: I252L

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: I252L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: I252L

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 noncoding transcript
Transcript: ENSMUST00000210310
Predicted Effect probably damaging
Transcript: ENSMUST00000211256
AA Change: I252L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000211672
AA Change: I252L

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.4413 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (85/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,793,587 (GRCm39) M1T probably null Het
Akap3 T C 6: 126,842,226 (GRCm39) S282P probably damaging Het
Anxa10 A G 8: 62,516,054 (GRCm39) I206T probably damaging Het
Apobec3 A G 15: 79,779,713 (GRCm39) D52G probably damaging Het
Arl6 A T 16: 59,439,228 (GRCm39) probably null Het
Calcoco1 T C 15: 102,626,329 (GRCm39) E87G probably damaging Het
Ccdc88b C A 19: 6,825,636 (GRCm39) A1206S probably damaging Het
Ccpg1 A G 9: 72,923,197 (GRCm39) probably benign Het
Cdon A G 9: 35,389,901 (GRCm39) N852D probably damaging Het
Cobl T A 11: 12,336,665 (GRCm39) Q41L possibly damaging Het
Cspg4b A G 13: 113,516,020 (GRCm39) T145A unknown Het
Dcdc2b T C 4: 129,507,936 (GRCm39) T39A probably damaging Het
Ddx55 A T 5: 124,705,997 (GRCm39) D474V probably benign Het
Dipk2a A T 9: 94,402,457 (GRCm39) C402S probably damaging Het
Dnah17 A G 11: 118,010,640 (GRCm39) L521P probably damaging Het
Exoc1 A G 5: 76,707,010 (GRCm39) D497G probably null Het
Fam151a A G 4: 106,605,456 (GRCm39) E606G possibly damaging Het
Fbxw11 T A 11: 32,692,535 (GRCm39) L502* probably null Het
Fcrl1 A G 3: 87,297,563 (GRCm39) S337G possibly damaging Het
G6pc1 C A 11: 101,267,439 (GRCm39) F296L probably benign Het
Gm17472 C A 6: 42,957,809 (GRCm39) T26N probably damaging Het
Grin2b A G 6: 135,751,870 (GRCm39) V564A probably benign Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
Hhip A G 8: 80,771,726 (GRCm39) Y195H probably damaging Het
Igkc A T 6: 70,703,662 (GRCm39) probably benign Het
Islr A T 9: 58,064,642 (GRCm39) D288E probably damaging Het
Kdelr1 A G 7: 45,523,197 (GRCm39) S36G probably benign Het
Lama5 G T 2: 179,821,159 (GRCm39) H3134Q possibly damaging Het
Loricrin A G 3: 91,989,050 (GRCm39) Y79H unknown Het
Lrp1b A G 2: 40,691,496 (GRCm39) F3327S probably damaging Het
Lrrc41 C T 4: 115,952,332 (GRCm39) H637Y probably benign Het
Map2k6 C T 11: 110,290,220 (GRCm39) probably benign Het
Mcm3ap T G 10: 76,306,404 (GRCm39) F172L probably damaging Het
Muc19 G A 15: 91,772,411 (GRCm39) noncoding transcript Het
Muc21 T A 17: 35,930,599 (GRCm39) probably benign Het
Muc6 T A 7: 141,224,212 (GRCm39) probably benign Het
Nrg2 A T 18: 36,154,152 (GRCm39) H588Q possibly damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Or1j12 A G 2: 36,343,062 (GRCm39) N155S probably benign Het
Or51b17 T C 7: 103,542,615 (GRCm39) E109G probably damaging Het
Or5m5 A G 2: 85,814,315 (GRCm39) T44A possibly damaging Het
Or8k1 A T 2: 86,048,032 (GRCm39) S7R probably benign Het
Pde3a A G 6: 141,411,865 (GRCm39) N480D probably benign Het
Pde6c A G 19: 38,145,833 (GRCm39) K374E probably damaging Het
Pdhx G A 2: 102,903,811 (GRCm39) probably null Het
Pi4ka A G 16: 17,100,237 (GRCm39) Y1888H probably damaging Het
Pnpla2 T A 7: 141,038,356 (GRCm39) M203K probably damaging Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptcd3 G T 6: 71,870,498 (GRCm39) H321N probably benign Het
Ptprt A G 2: 161,743,366 (GRCm39) probably null Het
Ptx4 A G 17: 25,342,100 (GRCm39) T192A probably benign Het
Qars1 A G 9: 108,386,889 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,187,387 (GRCm39) P1372S possibly damaging Het
Rps6ka4 G T 19: 6,816,854 (GRCm39) T107K probably damaging Het
Rsf1 A G 7: 97,329,980 (GRCm39) T1169A possibly damaging Het
Ryr2 C A 13: 11,721,553 (GRCm39) W2626L probably damaging Het
Scn4a C T 11: 106,214,788 (GRCm39) V1270I probably damaging Het
Serpinb9b T C 13: 33,223,806 (GRCm39) S333P probably damaging Het
Sned1 A G 1: 93,224,019 (GRCm39) probably benign Het
Sult1c2 C T 17: 54,137,137 (GRCm39) V262M possibly damaging Het
Tll1 A T 8: 64,504,411 (GRCm39) F662I probably benign Het
Tmem161a A T 8: 70,633,597 (GRCm39) probably null Het
Top1mt A C 15: 75,535,907 (GRCm39) V465G possibly damaging Het
Trcg1 A G 9: 57,153,144 (GRCm39) K596E possibly damaging Het
Trim27 T A 13: 21,365,086 (GRCm39) probably null Het
Trpm3 A G 19: 22,964,752 (GRCm39) I1406V possibly damaging Het
Tssc4 T A 7: 142,624,246 (GRCm39) S254T probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Usp30 A G 5: 114,257,705 (GRCm39) T288A probably damaging Het
Usp48 C A 4: 137,343,692 (GRCm39) R441S probably benign Het
Vmn1r29 T C 6: 58,284,285 (GRCm39) S2P probably benign Het
Vmn2r65 T A 7: 84,613,082 (GRCm39) I46L possibly damaging Het
Zeb1 A T 18: 5,766,775 (GRCm39) I429F probably damaging Het
Zfp943 A G 17: 22,212,176 (GRCm39) R421G probably benign 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
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
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'- AAATGTGCGTTCACTTTCTGG -3'
(R):5'- GGACTTTGAGCAGTATGTATTAGAC -3'

Sequencing Primer
(F):5'- CTGGATTTTAGTTTGAAGCTGGAAAC -3'
(R):5'- GCACAGGAAGGTTTAATAACTTCCG -3'
Posted On 2015-10-08