Incidental Mutation '2107:Nme7'
ID144
Institutional Source Beutler Lab
Gene Symbol Nme7
Ensembl Gene ENSMUSG00000026575
Gene NameNME/NM23 family member 7
Synonymsnon-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase), nucleoside-diphosphate kinase, D530024H21Rik, Nm23-M7
Accession Numbers

Genbank: NM_178071; MGI: 2449121

Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #2107 of strain triaka
Quality Score
Status Validated
Chromosome1
Chromosomal Location164304121-164437725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 164345353 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 211 (I211N)
Ref Sequence ENSEMBL: ENSMUSP00000083192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086028] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086028
AA Change: I211N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083192
Gene: ENSMUSG00000026575
AA Change: I211N

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191947
AA Change: I211N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575
AA Change: I211N

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193683
AA Change: I211N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575
AA Change: I211N

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193808
AA Change: I211N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
AA Change: I211N

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195474
Meta Mutation Damage Score 0.276 question?
Coding Region Coverage
  • 1x: 86.3%
  • 3x: 63.7%
Validation Efficiency 80% (79/99)
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 non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. [provided by MGI curators]
Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T A 11: 117,835,561 N198K probably damaging Homo
Fam184a T C 10: 53,641,057 E374G probably damaging Homo
Mypn C T 10: 63,203,751 probably benign Homo
Tmod4 G A 3: 95,130,168 probably null Homo
Wfs1 C T 5: 36,967,273 R758H probably damaging Het
Zfp112 T C 7: 24,126,841 C745R probably damaging Het
Other mutations in Nme7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Nme7 APN 1 164345430 splice site probably null
IGL01662:Nme7 APN 1 164328297 missense probably benign 0.02
IGL01893:Nme7 APN 1 164345281 missense probably damaging 0.99
R0255:Nme7 UTSW 1 164345375 missense probably damaging 1.00
R3545:Nme7 UTSW 1 164385782 missense probably damaging 0.99
R4380:Nme7 UTSW 1 164345238 missense probably benign 0.35
R5177:Nme7 UTSW 1 164380676 nonsense probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 926 of the Nme7 transcript in exon 8 of 10 total exons. Two transcripts of the Nme7 gene are displayed on Ensembl. The mutated nucleotide causes an isoleucine to asparagine substitution at amino acid 211 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Nme7 gene encodes a 395 amino acid nucleoside diphosphate kinase that has a major role in the synthesis of nucleoside triphosphates other than ATP. An ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (Uniprot Q9QXL8).
 
The I211N change is adjacent to one of the ATP binding sites (amino acid 212), and is predicted to be possibly damaging by the PolyPhen program.
Posted On2010-03-19