Incidental Mutation 'R3957:Nek7'
ID310736
Institutional Source Beutler Lab
Gene Symbol Nek7
Ensembl Gene ENSMUSG00000026393
Gene NameNIMA (never in mitosis gene a)-related expressed kinase 7
Synonyms2810460C19Rik
MMRRC Submission 040931-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3957 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location138482875-138620141 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 138534389 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 79 (C79F)
Ref Sequence ENSEMBL: ENSMUSP00000140635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027642] [ENSMUST00000186017] [ENSMUST00000187407]
Predicted Effect probably damaging
Transcript: ENSMUST00000027642
AA Change: C79F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027642
Gene: ENSMUSG00000026393
AA Change: C79F

DomainStartEndE-ValueType
S_TKc 34 299 1.86e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186017
AA Change: C79F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140903
Gene: ENSMUSG00000026393
AA Change: C79F

DomainStartEndE-ValueType
S_TKc 34 299 1.86e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187407
AA Change: C79F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140635
Gene: ENSMUSG00000026393
AA Change: C79F

DomainStartEndE-ValueType
S_TKc 34 299 1.86e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191549
Meta Mutation Damage Score 0.7988 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit infertility, decreased susceptibility to EAE, decreased body weight, abnormal gait, slight parasis and abnormal immune system response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,224,809 K393E possibly damaging Het
Acsm4 A T 7: 119,703,365 M238L possibly damaging Het
Adam2 G A 14: 66,057,610 S262L probably damaging Het
Atp13a5 T A 16: 29,298,194 I579L probably benign Het
Canx A G 11: 50,308,383 V153A probably damaging Het
Cdan1 A G 2: 120,725,632 Y718H probably damaging Het
Cdan1 G A 2: 120,731,020 probably benign Het
Cpsf3 A G 12: 21,313,805 D632G probably benign Het
Dach1 T C 14: 97,840,109 T561A probably damaging Het
Dennd5a A G 7: 109,905,699 M868T probably benign Het
Dhx29 C T 13: 112,930,921 A112V probably benign Het
Fanca G A 8: 123,316,363 R95C probably benign Het
Fat4 C A 3: 38,982,346 N3382K probably benign Het
Fkbp15 A C 4: 62,334,252 F290L probably benign Het
Fkbp8 T G 8: 70,534,867 S376A probably damaging Het
Hivep2 C A 10: 14,128,969 T437K probably benign Het
Igfn1 A G 1: 135,967,180 Y1883H possibly damaging Het
Ighv3-4 T A 12: 114,253,680 Q97L probably damaging Het
Igkv15-103 A T 6: 68,437,919 Y114F probably benign Het
Kera G A 10: 97,612,845 R309H probably benign Het
Kif1a T A 1: 93,025,694 H1256L probably damaging Het
Kremen1 CGGG CGGGGGG 11: 5,201,791 probably benign Het
Lmx1b T C 2: 33,569,094 E149G probably damaging Het
Me2 A G 18: 73,781,132 F443L probably damaging Het
Med12l T A 3: 59,073,168 S307R probably damaging Het
Mocs2 T A 13: 114,825,267 probably null Het
Olfr1042 A G 2: 86,159,938 V144A probably benign Het
Olfr1173 A G 2: 88,275,004 F15S probably damaging Het
Olfr127 A T 17: 37,903,609 H21L probably benign Het
Olfr566 A G 7: 102,856,617 C222R probably damaging Het
Ovch2 G A 7: 107,789,111 L421F probably damaging Het
Pan2 C T 10: 128,315,177 R806C probably damaging Het
Plod3 A T 5: 136,994,192 H616L probably damaging Het
Plxnb3 T C X: 73,771,220 V1789A probably benign Het
Ptgir A G 7: 16,906,869 M29V possibly damaging Het
Rrnad1 T C 3: 87,926,828 K116R possibly damaging Het
Tbc1d9 C T 8: 83,233,532 T138I probably damaging Het
Tdrkh A G 3: 94,428,249 N383S probably damaging Het
Trim30d C T 7: 104,472,521 G339D probably damaging Het
Trub1 G A 19: 57,485,366 A239T possibly damaging Het
Tspan32 T A 7: 143,006,998 M61K probably damaging Het
Ttc6 T C 12: 57,697,452 V1290A probably benign Het
Ttn A G 2: 76,969,249 V429A possibly damaging Het
Unc13b A G 4: 43,256,834 Y3962C probably damaging Het
Usp3 T C 9: 66,562,591 T83A probably benign Het
Vmn2r95 T A 17: 18,440,096 Y257N possibly damaging Het
Zmym6 T C 4: 127,123,296 S957P possibly damaging Het
Zmynd8 T C 2: 165,812,475 T722A probably damaging Het
Other mutations in Nek7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02151:Nek7 APN 1 138487100 missense probably damaging 1.00
Beauties UTSW 1 138534389 missense probably damaging 1.00
Cuties UTSW 1 138544242 nonsense probably null
Doubletake UTSW 1 138515654 missense probably damaging 1.00
R0010:Nek7 UTSW 1 138544204 missense possibly damaging 0.60
R0103:Nek7 UTSW 1 138544242 nonsense probably null
R0103:Nek7 UTSW 1 138544242 nonsense probably null
R0646:Nek7 UTSW 1 138515693 frame shift probably null
R3953:Nek7 UTSW 1 138534389 missense probably damaging 1.00
R3955:Nek7 UTSW 1 138534389 missense probably damaging 1.00
R4638:Nek7 UTSW 1 138544300 missense probably benign 0.22
R4750:Nek7 UTSW 1 138498673 missense probably damaging 1.00
R5101:Nek7 UTSW 1 138515693 missense probably benign 0.04
R5331:Nek7 UTSW 1 138498574 critical splice donor site probably null
R5838:Nek7 UTSW 1 138534363 critical splice donor site probably null
R6083:Nek7 UTSW 1 138515654 missense probably damaging 1.00
R6302:Nek7 UTSW 1 138498613 missense probably damaging 0.99
R6855:Nek7 UTSW 1 138515682 missense probably damaging 1.00
R6857:Nek7 UTSW 1 138515682 missense probably damaging 1.00
R6941:Nek7 UTSW 1 138502638 missense probably damaging 0.97
R7140:Nek7 UTSW 1 138487055 missense probably benign 0.01
R7808:Nek7 UTSW 1 138561771 start gained probably benign
Z1088:Nek7 UTSW 1 138515625 missense probably null 0.81
Predicted Primers PCR Primer
(F):5'- CACACATGCTCTAACTTATGCAG -3'
(R):5'- CAAATAAAGCTTGCATCTGTGTGAG -3'

Sequencing Primer
(F):5'- GTGTTACTTAGAACCAGTGTGTCACC -3'
(R):5'- CATCTGTGTGAGTGTGTGGATAC -3'
Posted On2015-04-29