Incidental Mutation 'IGL03099:Nek11'
ID 418665
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 # IGL03099
Quality Score
Status
Chromosome 9
Chromosomal Location 105039355-105272723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105164852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 425 (I425V)
Ref Sequence ENSEMBL: ENSMUSP00000038611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038648] [ENSMUST00000156256] [ENSMUST00000177029]
AlphaFold Q8C0Q4
Predicted Effect probably benign
Transcript: ENSMUST00000038648
AA Change: I425V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: I425V

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: ENSMUST00000156256
SMART Domains Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032

DomainStartEndE-ValueType
Pfam:Pkinase 30 177 8.9e-36 PFAM
Pfam:Pkinase_Tyr 30 178 8.9e-26 PFAM
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
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C A 1: 87,055,328 (GRCm39) F458L probably benign Het
Alpi A G 1: 87,026,353 (GRCm39) L546P unknown Het
Arpc5l A G 2: 38,903,844 (GRCm39) Y111C probably damaging Het
Atp11a T C 8: 12,877,462 (GRCm39) F296S possibly damaging Het
Bbof1 C T 12: 84,473,539 (GRCm39) Q290* probably null Het
Brinp3 A T 1: 146,777,835 (GRCm39) T761S possibly damaging Het
Cyp2j6 A T 4: 96,424,328 (GRCm39) M143K possibly damaging Het
Daw1 T C 1: 83,157,088 (GRCm39) probably null Het
Dst A G 1: 34,314,862 (GRCm39) N6498D probably damaging Het
Fbxo15 T C 18: 84,999,338 (GRCm39) L380P possibly damaging Het
Glce A T 9: 61,967,344 (GRCm39) F602L probably benign Het
Gpatch1 A G 7: 34,996,948 (GRCm39) S417P possibly damaging Het
Hjurp T C 1: 88,194,011 (GRCm39) K223R probably benign Het
Hnrnpm C T 17: 33,888,146 (GRCm39) C113Y probably damaging Het
Igkv4-71 T C 6: 69,220,399 (GRCm39) M11V probably benign Het
Insr G T 8: 3,308,715 (GRCm39) T107K probably damaging Het
Mdm4 G A 1: 132,919,947 (GRCm39) T306M probably damaging Het
Otop3 T A 11: 115,230,408 (GRCm39) V95E probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snx10 T A 6: 51,556,840 (GRCm39) M41K possibly damaging Het
Sos2 T A 12: 69,663,133 (GRCm39) N588Y probably damaging Het
Srrm3 C A 5: 135,898,152 (GRCm39) probably benign Het
Tbc1d19 G T 5: 54,040,997 (GRCm39) probably benign Het
Vmn2r68 T A 7: 84,871,448 (GRCm39) K612* probably null 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
IGL03256:Nek11 APN 9 105,121,613 (GRCm39) missense probably damaging 1.00
IGL03400:Nek11 APN 9 105,082,065 (GRCm39) missense probably benign 0.01
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