Incidental Mutation 'IGL01287:Nek5'
ID 72751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek5
Ensembl Gene ENSMUSG00000037738
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 5
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01287
Quality Score
Status
Chromosome 8
Chromosomal Location 22563632-22615069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22601199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 174 (N174S)
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: N174S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: N174S

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: N174S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect unknown
Transcript: ENSMUST00000210824
AA Change: N124S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213644
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,040 (GRCm39) K445E probably damaging Het
Abca15 A T 7: 119,932,081 (GRCm39) probably benign Het
Acsbg3 C T 17: 57,189,203 (GRCm39) Q204* probably null Het
Acvr1c A T 2: 58,170,254 (GRCm39) C371* probably null Het
Brs3 T C X: 56,092,727 (GRCm39) probably benign Het
Car14 C T 3: 95,806,871 (GRCm39) V198M possibly damaging Het
Cenpc1 G A 5: 86,170,313 (GRCm39) R704* probably null Het
Crybg1 C T 10: 43,868,490 (GRCm39) R1396H possibly damaging Het
Cubn A G 2: 13,315,377 (GRCm39) S3019P probably damaging Het
Cyp2j9 T C 4: 96,471,665 (GRCm39) E222G probably benign Het
Defb50 C A 8: 22,321,187 (GRCm39) T59K probably benign Het
Dlg3 T C X: 99,850,848 (GRCm39) I587T possibly damaging Het
Doc2a C T 7: 126,450,173 (GRCm39) R204C probably damaging Het
Galc T C 12: 98,212,503 (GRCm39) probably benign Het
Gm8257 A T 14: 44,892,800 (GRCm39) F67I probably damaging Het
Hnrnpul1 A T 7: 25,426,323 (GRCm39) N509K probably damaging Het
Iars2 T A 1: 185,028,625 (GRCm39) I678F possibly damaging Het
Ifit1 A G 19: 34,625,533 (GRCm39) E223G possibly damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrp4 C A 2: 91,304,293 (GRCm39) D157E probably damaging Het
Ltk T A 2: 119,586,186 (GRCm39) T21S probably benign Het
Lvrn A T 18: 46,997,733 (GRCm39) probably benign Het
Maob G A X: 16,578,881 (GRCm39) A424V probably damaging Het
Myo1g C A 11: 6,465,856 (GRCm39) V410F possibly damaging Het
Myorg T A 4: 41,498,923 (GRCm39) I236F possibly damaging Het
Naxe T C 3: 87,963,981 (GRCm39) H250R probably damaging Het
Or2y3 G T 17: 38,392,998 (GRCm39) N290K probably damaging Het
Or51l14 C T 7: 103,101,002 (GRCm39) R153W probably damaging Het
Or9m2 A G 2: 87,821,288 (GRCm39) T278A probably benign Het
Pex1 A G 5: 3,656,027 (GRCm39) T285A probably benign Het
Pfas A G 11: 68,892,086 (GRCm39) S141P probably benign Het
Pmm1 T C 15: 81,839,945 (GRCm39) T127A probably damaging Het
Proc C A 18: 32,256,873 (GRCm39) probably benign Het
Ranbp9 T C 13: 43,633,980 (GRCm39) E142G probably damaging Het
Recql4 C A 15: 76,594,112 (GRCm39) probably benign Het
Robo4 C T 9: 37,324,336 (GRCm39) P955S possibly damaging Het
Ryr3 T A 2: 112,539,418 (GRCm39) N3274I probably damaging Het
Serpinb10 T C 1: 107,468,612 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,404,811 (GRCm39) K848* probably null Het
Slfn5 A G 11: 82,847,807 (GRCm39) T231A probably damaging Het
Syncrip T C 9: 88,338,660 (GRCm39) probably benign Het
Syt16 A T 12: 74,313,513 (GRCm39) T480S probably damaging Het
Taf1c G A 8: 120,327,931 (GRCm39) T293M probably benign Het
Tbc1d5 T C 17: 51,120,826 (GRCm39) D430G possibly damaging Het
Tbx18 T C 9: 87,606,384 (GRCm39) T254A probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Usp17la T C 7: 104,510,522 (GRCm39) S376P probably benign Het
Vmn1r19 A G 6: 57,382,179 (GRCm39) D244G probably damaging Het
Vmn1r58 A T 7: 5,414,054 (GRCm39) F59I probably benign Het
Vmn2r45 A T 7: 8,488,622 (GRCm39) M136K probably benign Het
Vmn2r70 T A 7: 85,218,227 (GRCm39) R24* probably null Het
Vmn2r75 T A 7: 85,797,801 (GRCm39) I671F probably damaging Het
Other mutations in Nek5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5185:Nek5 UTSW 8 22,573,397 (GRCm39) missense possibly damaging 0.78
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
Posted On 2013-10-07