Incidental Mutation 'IGL03400:Nek11'
ID 421383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek11
Ensembl Gene ENSMUSG00000035032
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 11
Synonyms 4932416N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03400
Quality Score
Status
Chromosome 9
Chromosomal Location 105039355-105272723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105082065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 513 (A513T)
Ref Sequence ENSEMBL: ENSMUSP00000038611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038648] [ENSMUST00000177029]
AlphaFold Q8C0Q4
Predicted Effect probably benign
Transcript: ENSMUST00000038648
AA Change: A513T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: A513T

DomainStartEndE-ValueType
S_TKc 30 288 3.87e-80 SMART
coiled coil region 348 384 N/A INTRINSIC
low complexity region 408 423 N/A INTRINSIC
low complexity region 450 466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177029
SMART Domains Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032

DomainStartEndE-ValueType
SCOP:d1h8fa_ 11 80 1e-6 SMART
Blast:S_TKc 30 70 1e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215670
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bmp3 T C 5: 99,019,957 (GRCm39) S127P probably damaging Het
Cemip A G 7: 83,607,724 (GRCm39) S761P probably damaging Het
Cenatac A G 9: 44,324,486 (GRCm39) V185A probably benign Het
Ces3b A G 8: 105,819,568 (GRCm39) T495A probably damaging Het
Cops3 A T 11: 59,708,914 (GRCm39) D413E probably benign Het
Cyp4f16 A G 17: 32,769,327 (GRCm39) I406V probably benign Het
Efcab6 A T 15: 83,751,246 (GRCm39) probably benign Het
Emsy A G 7: 98,251,933 (GRCm39) V703A possibly damaging Het
Fancb T C X: 163,778,587 (GRCm39) S587P possibly damaging Het
Farp1 A G 14: 121,444,733 (GRCm39) Y80C probably damaging Het
Fgf10 T C 13: 118,918,151 (GRCm39) probably null Het
Fgf13 A G X: 58,171,248 (GRCm39) probably benign Het
Filip1 T C 9: 79,727,755 (GRCm39) K288R probably benign Het
L3mbtl3 T C 10: 26,191,424 (GRCm39) N458S unknown Het
Or10a3m A C 7: 108,312,733 (GRCm39) I46L probably benign Het
Or11q2 T A X: 48,772,781 (GRCm39) L134Q probably damaging Het
Or2ah1 T C 2: 85,654,094 (GRCm39) Y260H probably damaging Het
Palld G T 8: 61,966,489 (GRCm39) A630E probably damaging Het
Pdk1 T C 2: 71,726,091 (GRCm39) M333T probably benign Het
Rab9 T C X: 165,240,744 (GRCm39) N189S probably benign Het
Shtn1 C T 19: 59,020,690 (GRCm39) probably benign Het
Sntg1 T C 1: 8,533,638 (GRCm39) I339V probably damaging Het
Spns3 A G 11: 72,390,501 (GRCm39) V418A possibly damaging Het
St14 T A 9: 31,008,267 (GRCm39) probably benign Het
Tedc2 T C 17: 24,438,777 (GRCm39) D180G probably benign Het
Trim33 T C 3: 103,236,459 (GRCm39) I523T probably damaging Het
Ttn T A 2: 76,551,208 (GRCm39) M23068L probably benign Het
Ttn T C 2: 76,579,266 (GRCm39) M15549V probably damaging Het
Tubgcp6 A G 15: 88,992,302 (GRCm39) probably benign Het
Ube3c A G 5: 29,806,345 (GRCm39) Y329C probably benign Het
Zmym4 G T 4: 126,816,920 (GRCm39) D259E probably benign Het
Other mutations in Nek11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Nek11 APN 9 105,270,112 (GRCm39) missense probably damaging 1.00
IGL01369:Nek11 APN 9 105,177,259 (GRCm39) critical splice donor site probably null
IGL01958:Nek11 APN 9 105,177,502 (GRCm39) missense probably benign 0.06
IGL03099:Nek11 APN 9 105,164,852 (GRCm39) missense probably benign 0.02
IGL03256:Nek11 APN 9 105,121,613 (GRCm39) missense probably damaging 1.00
R0051:Nek11 UTSW 9 105,095,738 (GRCm39) splice site probably benign
R0051:Nek11 UTSW 9 105,095,738 (GRCm39) splice site probably benign
R0194:Nek11 UTSW 9 105,270,151 (GRCm39) missense probably benign 0.05
R0942:Nek11 UTSW 9 105,172,570 (GRCm39) splice site probably null
R1226:Nek11 UTSW 9 105,270,091 (GRCm39) missense probably damaging 1.00
R1503:Nek11 UTSW 9 105,040,403 (GRCm39) missense probably damaging 1.00
R1709:Nek11 UTSW 9 105,225,260 (GRCm39) missense probably damaging 1.00
R1958:Nek11 UTSW 9 105,170,916 (GRCm39) missense probably benign 0.00
R2128:Nek11 UTSW 9 105,177,560 (GRCm39) missense probably benign 0.01
R3754:Nek11 UTSW 9 105,191,917 (GRCm39) missense probably damaging 1.00
R4027:Nek11 UTSW 9 105,121,589 (GRCm39) nonsense probably null
R4594:Nek11 UTSW 9 105,270,046 (GRCm39) critical splice donor site probably null
R4650:Nek11 UTSW 9 105,225,279 (GRCm39) missense possibly damaging 0.79
R4724:Nek11 UTSW 9 105,270,169 (GRCm39) missense possibly damaging 0.89
R4846:Nek11 UTSW 9 105,040,362 (GRCm39) missense probably damaging 1.00
R4903:Nek11 UTSW 9 105,191,921 (GRCm39) missense possibly damaging 0.63
R4908:Nek11 UTSW 9 105,175,488 (GRCm39) missense probably benign 0.00
R4912:Nek11 UTSW 9 105,164,857 (GRCm39) missense probably benign 0.01
R4930:Nek11 UTSW 9 105,177,265 (GRCm39) missense probably damaging 1.00
R5827:Nek11 UTSW 9 105,191,944 (GRCm39) missense probably damaging 1.00
R5860:Nek11 UTSW 9 105,270,160 (GRCm39) missense probably benign 0.01
R6030:Nek11 UTSW 9 105,082,087 (GRCm39) critical splice acceptor site probably null
R6030:Nek11 UTSW 9 105,082,087 (GRCm39) critical splice acceptor site probably null
R6154:Nek11 UTSW 9 105,200,368 (GRCm39) makesense probably null
R6915:Nek11 UTSW 9 105,270,256 (GRCm39) unclassified probably benign
R7197:Nek11 UTSW 9 105,121,614 (GRCm39) missense probably damaging 1.00
R8059:Nek11 UTSW 9 105,040,173 (GRCm39) makesense probably null
R8140:Nek11 UTSW 9 105,270,156 (GRCm39) missense probably damaging 0.99
R8357:Nek11 UTSW 9 105,225,191 (GRCm39) missense probably damaging 1.00
R8457:Nek11 UTSW 9 105,225,191 (GRCm39) missense probably damaging 1.00
R8536:Nek11 UTSW 9 105,175,538 (GRCm39) missense probably benign 0.04
R8752:Nek11 UTSW 9 105,225,207 (GRCm39) missense probably benign 0.00
R8885:Nek11 UTSW 9 105,172,571 (GRCm39) critical splice donor site probably null
R9098:Nek11 UTSW 9 105,170,856 (GRCm39) missense probably benign 0.32
R9616:Nek11 UTSW 9 105,082,011 (GRCm39) missense probably damaging 1.00
Z1176:Nek11 UTSW 9 105,170,868 (GRCm39) missense probably benign 0.28
Posted On 2016-08-02