Incidental Mutation 'IGL01348:Nek11'
ID 75145
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 # IGL01348
Quality Score
Status
Chromosome 9
Chromosomal Location 105039355-105272723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105270112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 37 (G37S)
Ref Sequence ENSEMBL: ENSMUSP00000135837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000038648] [ENSMUST00000123807] [ENSMUST00000140851] [ENSMUST00000156256] [ENSMUST00000177029] [ENSMUST00000177402] [ENSMUST00000189758] [ENSMUST00000176350] [ENSMUST00000176940]
AlphaFold Q8C0Q4
Predicted Effect probably benign
Transcript: ENSMUST00000035181
SMART Domains Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567

DomainStartEndE-ValueType
Pfam:XPG_I_2 115 307 1e-18 PFAM
low complexity region 476 488 N/A INTRINSIC
low complexity region 621 634 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000038648
AA Change: G37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: G37S

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: ENSMUST00000123807
Predicted Effect probably benign
Transcript: ENSMUST00000123807
Predicted Effect probably damaging
Transcript: ENSMUST00000140851
AA Change: G37S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: G37S

DomainStartEndE-ValueType
S_TKc 30 288 3.87e-80 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000156256
AA Change: G37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: G37S

DomainStartEndE-ValueType
Pfam:Pkinase 30 177 8.9e-36 PFAM
Pfam:Pkinase_Tyr 30 178 8.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177029
AA Change: G37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
AA Change: G37S

DomainStartEndE-ValueType
SCOP:d1h8fa_ 11 80 1e-6 SMART
Blast:S_TKc 30 70 1e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176597
Predicted Effect probably benign
Transcript: ENSMUST00000177402
SMART Domains Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189758
SMART Domains Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176350
Predicted Effect probably benign
Transcript: ENSMUST00000176940
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Npc1l1 T C 11: 6,177,974 (GRCm39) N479D probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc12a1 A G 2: 125,036,051 (GRCm39) N641S probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Tpx2 A G 2: 152,735,511 (GRCm39) K713R probably damaging Het
Trappc9 T A 15: 72,808,858 (GRCm39) E556V possibly damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Trpv1 G A 11: 73,129,078 (GRCm39) probably null Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Nek11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-10-07