Incidental Mutation 'R3545:Nme7'
ID 472980
Institutional Source Beutler Lab
Gene Symbol Nme7
Ensembl Gene ENSMUSG00000026575
Gene Name NME/NM23 family member 7
Synonyms Nm23-M7, D530024H21Rik, nucleoside-diphosphate kinase, non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R3545 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 164135091-164264870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164213351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 343 (F343S)
Ref Sequence ENSEMBL: ENSMUSP00000141771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000191947
AA Change: F343S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575
AA Change: F343S

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: ENSMUST00000192710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193591
Predicted Effect probably damaging
Transcript: ENSMUST00000193683
AA Change: F343S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575
AA Change: F343S

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 probably damaging
Transcript: ENSMUST00000193808
AA Change: F343S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
AA Change: F343S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
F11r T C 1: 171,288,829 (GRCm39) V149A probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Otud4 A G 8: 80,391,684 (GRCm39) E443G probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pask A T 1: 93,244,837 (GRCm39) V1095D probably damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Ramac T A 7: 81,418,270 (GRCm39) probably null Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Other mutations in Nme7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Nme7 APN 1 164,172,999 (GRCm39) splice site probably null
IGL01662:Nme7 APN 1 164,155,866 (GRCm39) missense probably benign 0.02
IGL01893:Nme7 APN 1 164,172,850 (GRCm39) missense probably damaging 0.99
2107:Nme7 UTSW 1 164,172,922 (GRCm39) missense possibly damaging 0.94
R0255:Nme7 UTSW 1 164,172,944 (GRCm39) missense probably damaging 1.00
R4380:Nme7 UTSW 1 164,172,807 (GRCm39) missense probably benign 0.35
R5177:Nme7 UTSW 1 164,208,245 (GRCm39) nonsense probably null
R7454:Nme7 UTSW 1 164,208,217 (GRCm39) nonsense probably null
R8267:Nme7 UTSW 1 164,168,344 (GRCm39) missense probably benign 0.37
R8990:Nme7 UTSW 1 164,155,902 (GRCm39) missense probably damaging 1.00
R9570:Nme7 UTSW 1 164,206,961 (GRCm39) missense probably benign 0.01
R9781:Nme7 UTSW 1 164,155,890 (GRCm39) missense possibly damaging 0.90
Predicted Primers
Posted On 2017-04-14