Incidental Mutation 'IGL03203:Nek5'
ID413045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek5
Ensembl Gene ENSMUSG00000037738
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 5
Synonyms
Accession Numbers

Genbank: NM_177898.4; Ensembl: ENSMUST00000081815, ENSMUST00000169834

Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL03203
Quality Score
Status
Chromosome8
Chromosomal Location22073616-22125053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 22118768 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 92 (R92W)
Ref Sequence ENSEMBL: ENSMUSP00000148211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169834] [ENSMUST00000209656]
Predicted Effect probably damaging
Transcript: ENSMUST00000169834
AA Change: R92W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: R92W

DomainStartEndE-ValueType
S_TKc 4 255 3.77e-92 SMART
Blast:S_TKc 396 497 3e-37 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000209656
AA Change: R92W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000210824
AA Change: R42W
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 31,096,345 probably benign Het
Adamts17 T G 7: 67,062,108 I725S probably damaging Het
Arhgef3 T C 14: 27,394,116 Y292H probably damaging Het
Cdh19 C T 1: 110,890,098 C638Y possibly damaging Het
Ces1c A T 8: 93,124,588 M136K probably damaging Het
Col11a1 A G 3: 114,212,084 I482V possibly damaging Het
Col4a3 A T 1: 82,672,639 K539* probably null Het
D630045J12Rik A G 6: 38,168,221 V1290A probably damaging Het
Ear6 T G 14: 51,854,246 S83R probably benign Het
Gdf10 T C 14: 33,934,473 V464A possibly damaging Het
Herc1 T C 9: 66,388,900 probably null Het
Katnal2 G T 18: 77,007,524 A194E probably damaging Het
Lpxn A T 19: 12,819,406 M97L probably benign Het
Mn1 T C 5: 111,421,403 S1080P probably benign Het
Nadk T C 4: 155,585,251 F89L probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal4 C A 11: 46,150,296 L357F probably damaging Het
Olfr101 A G 17: 37,300,426 probably benign Het
Pcdhb6 A G 18: 37,334,532 N169D possibly damaging Het
Plppr4 A G 3: 117,325,891 C290R possibly damaging Het
Rxfp2 A G 5: 150,063,680 D332G probably benign Het
Slc9b2 G A 3: 135,326,212 D278N probably damaging Het
Taok1 A G 11: 77,540,085 V838A probably damaging Het
Thoc1 T A 18: 9,960,483 probably benign Het
Usp36 C T 11: 118,285,810 V61I probably benign Het
Uxs1 A G 1: 43,807,344 probably benign Het
Zmat4 C T 8: 24,015,184 H147Y probably damaging Het
Other mutations in Nek5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Nek5 APN 8 22111183 missense possibly damaging 0.75
IGL01418:Nek5 APN 8 22095269 missense probably damaging 1.00
IGL01485:Nek5 APN 8 22083369 missense probably benign 0.05
IGL01640:Nek5 APN 8 22120840 missense probably benign 0.00
IGL01894:Nek5 APN 8 22113819 missense probably damaging 1.00
IGL01958:Nek5 APN 8 22096826 missense probably benign 0.09
IGL02332:Nek5 APN 8 22095261 missense probably benign 0.14
IGL02718:Nek5 APN 8 22097463 missense probably benign 0.15
IGL03325:Nek5 APN 8 22079142 missense probably benign
R0257:Nek5 UTSW 8 22123672 intron probably benign
R0522:Nek5 UTSW 8 22088797 splice site probably benign
R0525:Nek5 UTSW 8 22079077 unclassified probably benign
R1476:Nek5 UTSW 8 22096731 missense possibly damaging 0.86
R1483:Nek5 UTSW 8 22096790 missense probably benign 0.30
R1764:Nek5 UTSW 8 22109912 missense probably damaging 0.98
R1892:Nek5 UTSW 8 22107729 missense probably benign 0.11
R1989:Nek5 UTSW 8 22111169 missense probably damaging 1.00
R2229:Nek5 UTSW 8 22113632 missense possibly damaging 0.76
R4114:Nek5 UTSW 8 22111162 missense probably damaging 1.00
R4116:Nek5 UTSW 8 22111162 missense probably damaging 1.00
R4709:Nek5 UTSW 8 22083427 missense probably damaging 0.99
R4952:Nek5 UTSW 8 22079088 missense probably benign 0.00
R4952:Nek5 UTSW 8 22096799 missense probably benign 0.00
R5185:Nek5 UTSW 8 22083381 missense possibly damaging 0.78
R5816:Nek5 UTSW 8 22096736 missense probably benign 0.02
R5884:Nek5 UTSW 8 22088801 critical splice donor site probably null
R6009:Nek5 UTSW 8 22120822 missense probably benign 0.00
R6279:Nek5 UTSW 8 22107721 missense probably benign
R6300:Nek5 UTSW 8 22107721 missense probably benign
R6437:Nek5 UTSW 8 22085460 missense possibly damaging 0.95
R7034:Nek5 UTSW 8 22107723 missense probably benign 0.00
R7036:Nek5 UTSW 8 22107723 missense probably benign 0.00
R7278:Nek5 UTSW 8 22090484 missense probably benign 0.13
R7436:Nek5 UTSW 8 22108040 missense probably damaging 1.00
R7666:Nek5 UTSW 8 22090517 missense probably benign 0.12
R7827:Nek5 UTSW 8 22083387 missense possibly damaging 0.91
R8057:Nek5 UTSW 8 22088906 missense probably benign 0.21
R8350:Nek5 UTSW 8 22113672 missense probably damaging 0.98
R8847:Nek5 UTSW 8 22123579 missense probably benign 0.01
R8888:Nek5 UTSW 8 22090479 critical splice donor site probably null
R8933:Nek5 UTSW 8 22111210 missense probably damaging 1.00
R8933:Nek5 UTSW 8 22120843 missense probably damaging 1.00
X0012:Nek5 UTSW 8 22095248 missense possibly damaging 0.92
Posted On2016-08-02