Incidental Mutation 'R1226:Nek11'
ID 152239
Institutional Source Beutler Lab
Gene Symbol Nek11
Ensembl Gene ENSMUSG00000035032
Gene Name NIMA (never in mitosis gene a)-related expressed kinase 11
Synonyms 4932416N14Rik
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 105039355-105272723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105270091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 44 (V44I)
Ref Sequence ENSEMBL: ENSMUSP00000135837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000038648] [ENSMUST00000123807] [ENSMUST00000140851] [ENSMUST00000156256] [ENSMUST00000177029] [ENSMUST00000177402] [ENSMUST00000176940] [ENSMUST00000189758] [ENSMUST00000176350]
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 possibly damaging
Transcript: ENSMUST00000038648
AA Change: V44I

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: V44I

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 benign
Transcript: ENSMUST00000140851
AA Change: V44I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: V44I

DomainStartEndE-ValueType
S_TKc 30 288 3.87e-80 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000156256
AA Change: V44I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: V44I

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: V44I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
AA Change: V44I

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: ENSMUST00000176940
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTTCCCACTGAGGAAGTCTCAAACAC -3'
(R):5'- CGGATGCCCAACTGTTGTTTCTGTG -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GTTTCTGTGAATGAACAAGCCAG -3'
Posted On 2014-01-29