Incidental Mutation 'IGL01348:Nek11'
ID75145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nek11
Ensembl Gene ENSMUSG00000035032
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 11
Synonyms4932416N14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01348
Quality Score
Status
Chromosome9
Chromosomal Location105162156-105395524 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 105392913 bp
ZygosityHeterozygous
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] [ENSMUST00000176350] [ENSMUST00000176940] [ENSMUST00000177029] [ENSMUST00000177402] [ENSMUST00000189758]
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 benign
Transcript: ENSMUST00000176350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176597
Predicted Effect probably benign
Transcript: ENSMUST00000176940
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 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
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: 23,517,213 E140G probably null Het
8030462N17Rik A G 18: 77,673,917 I233T possibly damaging Het
Adgrl3 A G 5: 81,726,723 T956A probably damaging Het
Aff4 G A 11: 53,402,500 S772N probably benign Het
Atad5 A G 11: 80,095,564 I492M probably benign Het
Atf4 T C 15: 80,256,527 probably benign Het
Atrip A G 9: 109,069,295 S219P probably damaging Het
Axl G A 7: 25,763,309 R656W probably damaging Het
B3gnt3 T A 8: 71,693,004 Q240L possibly damaging Het
Baz2b A G 2: 59,933,687 V915A possibly damaging Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Cacna1s T C 1: 136,075,152 V329A possibly damaging Het
Celf3 C A 3: 94,488,228 Q388K possibly damaging Het
Ciita T C 16: 10,510,727 S292P probably damaging Het
Clec18a G A 8: 111,071,613 A423V probably damaging Het
Clnk T C 5: 38,713,207 D336G probably damaging Het
Csmd1 T G 8: 15,910,596 H3273P probably damaging Het
Cyp3a11 A T 5: 145,869,007 V157E possibly damaging Het
Dcp1b T C 6: 119,183,718 I87T probably damaging Het
Ell3 A G 2: 121,441,796 S66P probably damaging Het
Ercc4 T C 16: 13,132,934 F631L probably damaging Het
Etl4 T A 2: 20,806,973 V1289D probably damaging Het
Gm16372 T C 12: 24,493,607 probably benign Het
Gm4553 C T 7: 142,165,172 C173Y unknown Het
Gm8989 T A 7: 106,329,835 H285L unknown Het
Gykl1 A T 18: 52,694,736 I339F possibly damaging Het
H60b A C 10: 22,286,179 N101T possibly damaging Het
Inpp4a C T 1: 37,388,905 T407I probably damaging Het
Itga11 A G 9: 62,744,579 N331S possibly damaging Het
Kbtbd6 T A 14: 79,453,343 C430S probably damaging Het
Mfsd4a T C 1: 132,067,826 S1G probably null Het
Mybpc2 C A 7: 44,515,928 M372I probably benign Het
Myh10 A T 11: 68,811,803 T1768S probably benign Het
Myh8 A G 11: 67,297,780 K1063E probably damaging Het
Nat8f5 A T 6: 85,817,880 F33I probably damaging Het
Nbeal2 T G 9: 110,629,146 N2119T probably damaging Het
Npc1l1 T C 11: 6,227,974 N479D probably damaging Het
Nup160 A G 2: 90,700,428 T477A probably benign Het
Olfr121 A T 17: 37,752,286 H144L probably benign Het
Olfr186 T A 16: 59,027,794 T38S probably damaging Het
Pcgf2 A G 11: 97,690,240 V259A probably benign Het
Pmm1 A G 15: 81,952,018 V131A probably damaging Het
Polr3a A T 14: 24,461,763 D908E probably damaging Het
Psg29 A C 7: 17,210,673 R369S probably benign Het
Ptprq T A 10: 107,711,904 D211V probably damaging Het
Rdh9 A G 10: 127,776,792 N103S probably benign Het
Riok3 T C 18: 12,152,963 probably benign Het
Serpinb1b A T 13: 33,091,415 Q174H probably benign Het
Sgip1 G T 4: 102,915,156 probably null Het
Sgpp1 A T 12: 75,734,993 Y191N probably damaging Het
Slc12a1 A G 2: 125,194,131 N641S probably damaging Het
Slc5a4b T C 10: 76,070,588 N399S probably damaging Het
Snx16 C T 3: 10,419,159 A335T probably damaging Het
Sos2 C T 12: 69,618,092 R355H probably damaging Het
Szt2 A G 4: 118,393,624 probably benign Het
Tbcd T A 11: 121,497,076 D344E probably benign Het
Tek C A 4: 94,859,658 Q988K probably damaging Het
Tgm6 A G 2: 130,137,379 D143G probably damaging Het
Tpx2 A G 2: 152,893,591 K713R probably damaging Het
Trappc9 T A 15: 72,937,009 E556V possibly damaging Het
Trpm6 A T 19: 18,877,651 K1891N probably damaging Het
Trpv1 G A 11: 73,238,252 probably null Het
Usp37 T C 1: 74,461,702 S567G probably damaging Het
Zfp773 A T 7: 7,135,315 V107D possibly damaging Het
Other mutations in Nek11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Nek11 APN 9 105300060 critical splice donor site probably null
IGL01958:Nek11 APN 9 105300303 missense probably benign 0.06
IGL03099:Nek11 APN 9 105287653 missense probably benign 0.02
IGL03256:Nek11 APN 9 105244414 missense probably damaging 1.00
IGL03400:Nek11 APN 9 105204866 missense probably benign 0.01
R0051:Nek11 UTSW 9 105218539 splice site probably benign
R0051:Nek11 UTSW 9 105218539 splice site probably benign
R0194:Nek11 UTSW 9 105392952 missense probably benign 0.05
R0942:Nek11 UTSW 9 105295371 splice site probably null
R1226:Nek11 UTSW 9 105392892 missense probably damaging 1.00
R1503:Nek11 UTSW 9 105163204 missense probably damaging 1.00
R1709:Nek11 UTSW 9 105348061 missense probably damaging 1.00
R1958:Nek11 UTSW 9 105293717 missense probably benign 0.00
R2128:Nek11 UTSW 9 105300361 missense probably benign 0.01
R3754:Nek11 UTSW 9 105314718 missense probably damaging 1.00
R4027:Nek11 UTSW 9 105244390 nonsense probably null
R4594:Nek11 UTSW 9 105392847 critical splice donor site probably null
R4650:Nek11 UTSW 9 105348080 missense possibly damaging 0.79
R4724:Nek11 UTSW 9 105392970 missense possibly damaging 0.89
R4846:Nek11 UTSW 9 105163163 missense probably damaging 1.00
R4903:Nek11 UTSW 9 105314722 missense possibly damaging 0.63
R4908:Nek11 UTSW 9 105298289 missense probably benign 0.00
R4912:Nek11 UTSW 9 105287658 missense probably benign 0.01
R4930:Nek11 UTSW 9 105300066 missense probably damaging 1.00
R5827:Nek11 UTSW 9 105314745 missense probably damaging 1.00
R5860:Nek11 UTSW 9 105392961 missense probably benign 0.01
R6030:Nek11 UTSW 9 105204888 critical splice acceptor site probably null
R6030:Nek11 UTSW 9 105204888 critical splice acceptor site probably null
R6154:Nek11 UTSW 9 105323169 makesense probably null
R6915:Nek11 UTSW 9 105393057 unclassified probably benign
R7197:Nek11 UTSW 9 105244415 missense probably damaging 1.00
R8059:Nek11 UTSW 9 105162974 makesense probably null
R8140:Nek11 UTSW 9 105392957 missense probably damaging 0.99
R8357:Nek11 UTSW 9 105347992 missense probably damaging 1.00
R8457:Nek11 UTSW 9 105347992 missense probably damaging 1.00
R8536:Nek11 UTSW 9 105298339 missense probably benign 0.04
Z1176:Nek11 UTSW 9 105293669 missense probably benign 0.28
Posted On2013-10-07