Incidental Mutation 'IGL01958:Nek5'
ID 181461
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 # IGL01958
Quality Score
Status
Chromosome 8
Chromosomal Location 22563632-22615069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22586842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 323 (V323E)
Ref Sequence ENSEMBL: ENSMUSP00000148211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169834] [ENSMUST00000209656]
AlphaFold Q7TSC3
Predicted Effect probably benign
Transcript: ENSMUST00000169834
AA Change: V323E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: V323E

DomainStartEndE-ValueType
S_TKc 4 255 3.77e-92 SMART
Blast:S_TKc 396 497 3e-37 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209656
AA Change: V323E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000210824
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M 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
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 2014-05-07