Incidental Mutation 'R5185:Nek5'
ID 397818
Institutional Source Beutler Lab
Gene Symbol Nek5
Ensembl Gene ENSMUSG00000037738
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 5
Synonyms
MMRRC Submission 042764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5185 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22563632-22615069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22573397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 520 (A520T)
Ref Sequence ENSEMBL: ENSMUSP00000148211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169834] [ENSMUST00000209656]
AlphaFold Q7TSC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000169834
AA Change: A520T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: A520T

DomainStartEndE-ValueType
S_TKc 4 255 3.77e-92 SMART
Blast:S_TKc 396 497 3e-37 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000209656
AA Change: A520T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000210824
Meta Mutation Damage Score 0.0956 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 95% (70/74)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 T C 11: 94,453,737 (GRCm39) Y408C probably damaging Het
Aox4 T C 1: 58,293,477 (GRCm39) L943S probably damaging Het
Ap1g1 G A 8: 110,589,958 (GRCm39) probably benign Het
Arsb T C 13: 93,930,667 (GRCm39) S212P probably damaging Het
Arsi A G 18: 61,049,984 (GRCm39) N289S probably damaging Het
Atp6v1h T A 1: 5,165,865 (GRCm39) F72I probably damaging Het
Atxn7 T C 14: 14,090,063 (GRCm38) I336T probably benign Het
Bak1 G A 17: 27,241,722 (GRCm39) P65L possibly damaging Het
Bcl6 A T 16: 23,791,697 (GRCm39) M219K possibly damaging Het
Brd3 T C 2: 27,352,460 (GRCm39) K157E probably damaging Het
Ccdc171 T G 4: 83,581,892 (GRCm39) S674A possibly damaging Het
Cfap43 A G 19: 47,768,833 (GRCm39) I737T probably benign Het
Cul9 A T 17: 46,836,758 (GRCm39) V1089D possibly damaging Het
Dffa C A 4: 149,201,887 (GRCm39) A155E probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Efcab12 T A 6: 115,800,451 (GRCm39) M191L probably benign Het
Efl1 T C 7: 82,421,707 (GRCm39) L1018P probably damaging Het
Fcho1 A G 8: 72,167,600 (GRCm39) probably benign Het
Fndc3b T A 3: 27,511,219 (GRCm39) T764S probably benign Het
Gm29125 T C 1: 80,361,948 (GRCm39) noncoding transcript Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gm9949 T G 18: 62,313,636 (GRCm39) probably benign Het
Golgb1 T C 16: 36,695,503 (GRCm39) probably benign Het
Gpd2 T C 2: 57,230,216 (GRCm39) Y323H probably damaging Het
Grip1 T G 10: 119,767,164 (GRCm39) D96E probably benign Het
Hmcn1 T C 1: 150,532,492 (GRCm39) I3132V probably benign Het
Hsd17b1 T C 11: 100,971,024 (GRCm39) W327R possibly damaging Het
Htra2 G A 6: 83,031,223 (GRCm39) P62L probably benign Het
Kdr A T 5: 76,113,077 (GRCm39) probably null Het
Kif14 T A 1: 136,455,207 (GRCm39) C1626* probably null Het
Kmt2a A T 9: 44,731,543 (GRCm39) probably benign Het
Krt15 T C 11: 100,024,259 (GRCm39) T321A probably damaging Het
Lactbl1 A T 4: 136,358,356 (GRCm39) H109L probably benign Het
Lilra6 T A 7: 3,917,635 (GRCm39) H120L probably benign Het
Lpcat2 G A 8: 93,596,365 (GRCm39) S134N probably benign Het
Mpp4 T C 1: 59,164,742 (GRCm39) D465G probably benign Het
Naip2 A T 13: 100,325,859 (GRCm39) D16E probably damaging Het
Nfatc2 A G 2: 168,412,627 (GRCm39) F132L possibly damaging Het
Nlrp3 C A 11: 59,455,910 (GRCm39) T902N probably benign Het
Or10d1b A T 9: 39,613,172 (GRCm39) W298R probably benign Het
Or4c123 A T 2: 89,126,731 (GRCm39) H294Q probably benign Het
Or7e165 T C 9: 19,694,672 (GRCm39) M81T probably damaging Het
Or8h7 T C 2: 86,720,946 (GRCm39) D191G probably benign Het
Pcdhb16 T C 18: 37,613,142 (GRCm39) S701P possibly damaging Het
Phf7 A G 14: 30,969,994 (GRCm39) probably null Het
Plpp4 G A 7: 128,918,028 (GRCm39) V68M probably damaging Het
Pnma2 A T 14: 67,153,578 (GRCm39) M1L possibly damaging Het
Pnma8b A T 7: 16,679,901 (GRCm39) D295V probably damaging Het
Rad21l T C 2: 151,499,382 (GRCm39) D270G probably benign Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rasal3 A T 17: 32,615,764 (GRCm39) L334Q probably damaging Het
Rfx4 G T 10: 84,699,114 (GRCm39) R240L probably damaging Het
Rnf19b T A 4: 128,977,713 (GRCm39) C642* probably null Het
Slc28a2 G A 2: 122,288,675 (GRCm39) E594K probably benign Het
Spata31 G T 13: 65,065,340 (GRCm39) W15L possibly damaging Het
Spink5 T C 18: 44,148,711 (GRCm39) S925P probably damaging Het
Svep1 C T 4: 58,084,534 (GRCm39) G1865S probably damaging Het
Tg T C 15: 66,645,323 (GRCm39) L791P probably damaging Het
Thbs4 A C 13: 92,911,675 (GRCm39) V247G probably damaging Het
Tpcn2 A T 7: 144,809,191 (GRCm39) F705Y probably damaging Het
Try10 A T 6: 41,333,483 (GRCm39) H76L probably damaging Het
Ttn C T 2: 76,769,565 (GRCm39) V2695I probably damaging Het
Tut1 C A 19: 8,932,814 (GRCm39) T49N probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Yipf4 A G 17: 74,799,470 (GRCm39) D70G probably null Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Other mutations in Nek5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Nek5 APN 8 22,601,199 (GRCm39) missense possibly damaging 0.75
IGL01418:Nek5 APN 8 22,585,285 (GRCm39) missense probably damaging 1.00
IGL01485:Nek5 APN 8 22,573,385 (GRCm39) missense probably benign 0.05
IGL01640:Nek5 APN 8 22,610,856 (GRCm39) missense probably benign 0.00
IGL01894:Nek5 APN 8 22,603,835 (GRCm39) missense probably damaging 1.00
IGL01958:Nek5 APN 8 22,586,842 (GRCm39) missense probably benign 0.09
IGL02332:Nek5 APN 8 22,585,277 (GRCm39) missense probably benign 0.14
IGL02718:Nek5 APN 8 22,587,479 (GRCm39) missense probably benign 0.15
IGL03203:Nek5 APN 8 22,608,784 (GRCm39) missense probably damaging 1.00
IGL03325:Nek5 APN 8 22,569,158 (GRCm39) missense probably benign
R0257:Nek5 UTSW 8 22,613,688 (GRCm39) intron probably benign
R0522:Nek5 UTSW 8 22,578,813 (GRCm39) splice site probably benign
R0525:Nek5 UTSW 8 22,569,093 (GRCm39) unclassified probably benign
R1476:Nek5 UTSW 8 22,586,747 (GRCm39) missense possibly damaging 0.86
R1483:Nek5 UTSW 8 22,586,806 (GRCm39) missense probably benign 0.30
R1764:Nek5 UTSW 8 22,599,928 (GRCm39) missense probably damaging 0.98
R1892:Nek5 UTSW 8 22,597,745 (GRCm39) missense probably benign 0.11
R1989:Nek5 UTSW 8 22,601,185 (GRCm39) missense probably damaging 1.00
R2229:Nek5 UTSW 8 22,603,648 (GRCm39) missense possibly damaging 0.76
R4114:Nek5 UTSW 8 22,601,178 (GRCm39) missense probably damaging 1.00
R4116:Nek5 UTSW 8 22,601,178 (GRCm39) missense probably damaging 1.00
R4709:Nek5 UTSW 8 22,573,443 (GRCm39) missense probably damaging 0.99
R4952:Nek5 UTSW 8 22,569,104 (GRCm39) missense probably benign 0.00
R4952:Nek5 UTSW 8 22,586,815 (GRCm39) missense probably benign 0.00
R5816:Nek5 UTSW 8 22,586,752 (GRCm39) missense probably benign 0.02
R5884:Nek5 UTSW 8 22,578,817 (GRCm39) critical splice donor site probably null
R6009:Nek5 UTSW 8 22,610,838 (GRCm39) missense probably benign 0.00
R6279:Nek5 UTSW 8 22,597,737 (GRCm39) missense probably benign
R6300:Nek5 UTSW 8 22,597,737 (GRCm39) missense probably benign
R6437:Nek5 UTSW 8 22,575,476 (GRCm39) missense possibly damaging 0.95
R7034:Nek5 UTSW 8 22,597,739 (GRCm39) missense probably benign 0.00
R7036:Nek5 UTSW 8 22,597,739 (GRCm39) missense probably benign 0.00
R7278:Nek5 UTSW 8 22,580,500 (GRCm39) missense probably benign 0.13
R7436:Nek5 UTSW 8 22,598,056 (GRCm39) missense probably damaging 1.00
R7666:Nek5 UTSW 8 22,580,533 (GRCm39) missense probably benign 0.12
R7827:Nek5 UTSW 8 22,573,403 (GRCm39) missense possibly damaging 0.91
R8057:Nek5 UTSW 8 22,578,922 (GRCm39) missense probably benign 0.21
R8350:Nek5 UTSW 8 22,603,688 (GRCm39) missense probably damaging 0.98
R8847:Nek5 UTSW 8 22,613,595 (GRCm39) missense probably benign 0.01
R8888:Nek5 UTSW 8 22,580,495 (GRCm39) critical splice donor site probably null
R8933:Nek5 UTSW 8 22,610,859 (GRCm39) missense probably damaging 1.00
R8933:Nek5 UTSW 8 22,601,226 (GRCm39) missense probably damaging 1.00
R9353:Nek5 UTSW 8 22,563,961 (GRCm39) missense probably benign 0.00
R9574:Nek5 UTSW 8 22,564,040 (GRCm39) missense probably benign 0.00
R9745:Nek5 UTSW 8 22,573,479 (GRCm39) missense probably benign 0.04
X0012:Nek5 UTSW 8 22,585,264 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TGGAAGTGCATGCCTTGGAAC -3'
(R):5'- TCCATGGCTCTAACATTCTGTG -3'

Sequencing Primer
(F):5'- CATGCCTTGGAACCAGTTTG -3'
(R):5'- GATGGCCAAGTGATTGTG -3'
Posted On 2016-07-06