Incidental Mutation 'IGL03325:Nek5'
ID416604
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: 0.068) question?
Stock #IGL03325
Quality Score
Status
Chromosome8
Chromosomal Location22073616-22125053 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22079142 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 555 (T555A)
Ref Sequence ENSEMBL: ENSMUSP00000148211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169834] [ENSMUST00000209656]
Predicted Effect probably benign
Transcript: ENSMUST00000169834
AA Change: T555A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: T555A

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: T555A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210824
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik A T 14: 49,243,820 probably benign Het
4930435E12Rik A T 16: 38,827,993 S251R probably damaging Het
Abca8b G A 11: 109,953,596 R870C possibly damaging Het
Abcf2 A T 5: 24,574,212 L113I probably damaging Het
Abi1 C T 2: 22,971,228 R106Q probably damaging Het
Arhgef28 A G 13: 97,899,816 V1645A probably benign Het
Ceacam1 G A 7: 25,476,487 A94V possibly damaging Het
Fat2 G A 11: 55,282,342 T2515I probably damaging Het
Gm4951 T A 18: 60,245,811 Y139* probably null Het
Gm5800 T C 14: 51,714,526 Y93C probably benign Het
Gnl1 A G 17: 35,988,656 D573G probably damaging Het
Gosr1 A G 11: 76,754,403 M105T probably benign Het
Gramd1c A T 16: 44,005,505 Y303N probably benign Het
Heatr9 A G 11: 83,513,259 probably null Het
Itih2 T C 2: 10,106,735 D464G probably damaging Het
Jcad T C 18: 4,673,902 Y555H probably benign Het
Krtap19-3 A T 16: 88,877,721 *88R probably null Het
Mrps11 T C 7: 78,790,705 F114S probably damaging Het
Nat8 A T 6: 85,830,893 V86E possibly damaging Het
Olfr788 A T 10: 129,473,605 K304N probably benign Het
Pprc1 C T 19: 46,061,509 T10I possibly damaging Het
Prss16 A G 13: 22,003,247 V409A possibly damaging Het
Sema3d T A 5: 12,463,222 L53Q probably damaging Het
Sfmbt2 T C 2: 10,577,817 Y696H probably damaging Het
Sh2d3c C T 2: 32,725,258 A120V probably benign Het
Smn1 A G 13: 100,127,857 Y32C probably damaging Het
Sun2 C T 15: 79,738,648 R110Q probably benign Het
Tcp11l2 T G 10: 84,604,900 D323E possibly damaging Het
Tnni3k A T 3: 154,961,814 S296R probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Unc79 T A 12: 103,169,610 S2435T probably damaging Het
Vmn2r114 C A 17: 23,291,678 K609N 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
IGL03203:Nek5 APN 8 22118768 missense probably damaging 1.00
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
X0012:Nek5 UTSW 8 22095248 missense possibly damaging 0.92
Posted On2016-08-02