Incidental Mutation 'IGL01066:Nme7'
ID 50184
Institutional Source Australian Phenomics Network (link to record)
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: 0.230) question?
Stock # IGL01066
Quality Score
Status
Chromosome 1
Chromosomal Location 164135091-164264870 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 164172999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086028] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000086028
SMART Domains Protein: ENSMUSP00000083192
Gene: ENSMUSG00000026575

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
Predicted Effect probably null
Transcript: ENSMUST00000191947
SMART Domains Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575

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 null
Transcript: ENSMUST00000193683
SMART Domains Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575

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 benign
Transcript: ENSMUST00000193808
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575

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
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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2300003K06Rik T A 11: 99,728,454 (GRCm39) R130* probably null Het
Abca12 T A 1: 71,392,889 (GRCm39) R117W possibly damaging Het
Agrn A G 4: 156,261,800 (GRCm39) S497P probably benign Het
Alpk1 A T 3: 127,473,874 (GRCm39) S710T probably benign Het
Anapc4 T A 5: 53,014,551 (GRCm39) N471K probably benign Het
Ano3 A T 2: 110,491,790 (GRCm39) M879K probably null Het
Apoe A G 7: 19,430,525 (GRCm39) L239P probably damaging Het
Ash1l T C 3: 88,891,942 (GRCm39) Y1274H probably damaging Het
B3glct C T 5: 149,632,890 (GRCm39) T80I possibly damaging Het
Ccdc146 T C 5: 21,524,540 (GRCm39) T271A probably benign Het
Chd8 T A 14: 52,455,223 (GRCm39) N1088I probably damaging Het
Csnk1g2 T C 10: 80,470,481 (GRCm39) probably benign Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnai7 C T 6: 145,121,948 (GRCm39) G624S probably damaging Het
Dpy19l3 A G 7: 35,392,192 (GRCm39) probably benign Het
Enc1 A G 13: 97,381,822 (GRCm39) I111V probably benign Het
Ep400 A G 5: 110,816,065 (GRCm39) probably benign Het
Fig4 T C 10: 41,161,413 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,503,252 (GRCm39) L36* probably null Het
Fxn A T 19: 24,244,662 (GRCm39) probably benign Het
Gm10152 C T 7: 144,316,993 (GRCm39) P16L unknown Het
Hivep2 T C 10: 14,024,768 (GRCm39) V2194A possibly damaging Het
Hook3 T G 8: 26,538,326 (GRCm39) E525A probably damaging Het
Icam1 A G 9: 20,927,401 (GRCm39) probably null Het
Ifngr1 C T 10: 19,484,946 (GRCm39) T315I probably damaging Het
Igsf10 A G 3: 59,235,203 (GRCm39) probably null Het
Irag2 T C 6: 145,106,681 (GRCm39) S222P probably damaging Het
Krt87 A G 15: 101,336,266 (GRCm39) probably null Het
Lama1 T A 17: 68,050,321 (GRCm39) C311S probably damaging Het
Lig3 T A 11: 82,688,141 (GRCm39) M714K possibly damaging Het
Lypd5 C T 7: 24,052,910 (GRCm39) T189I probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Met T C 6: 17,535,104 (GRCm39) probably null Het
Nlrp4g C A 9: 124,349,526 (GRCm38) noncoding transcript Het
Nlrp6 T A 7: 140,501,709 (GRCm39) V62D possibly damaging Het
Or2y1f T C 11: 49,184,457 (GRCm39) I103T possibly damaging Het
Or5m9 A G 2: 85,877,602 (GRCm39) R259G probably damaging Het
Or5p79 T C 7: 108,221,064 (GRCm39) F15S probably damaging Het
Pcnx1 G A 12: 82,038,795 (GRCm39) R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,718 (GRCm39) probably benign Het
Pi4ka A G 16: 17,166,637 (GRCm39) probably benign Het
Pkdrej T G 15: 85,700,360 (GRCm39) I1859L probably benign Het
Plcg1 A T 2: 160,596,318 (GRCm39) H638L probably damaging Het
Polr1b C T 2: 128,961,072 (GRCm39) S677L probably damaging Het
Ppef2 A G 5: 92,382,096 (GRCm39) L533P probably damaging Het
Sh3rf1 T A 8: 61,782,370 (GRCm39) W171R probably damaging Het
Son T C 16: 91,457,024 (GRCm39) probably benign Het
Sycp1 A G 3: 102,827,950 (GRCm39) S266P probably damaging Het
Tedc1 A G 12: 113,126,770 (GRCm39) E344G probably damaging Het
Tkfc T C 19: 10,571,892 (GRCm39) I381M probably benign Het
Tmprss6 T C 15: 78,326,634 (GRCm39) D1G probably null Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ubtf T C 11: 102,199,710 (GRCm39) probably benign Het
Vps35l T A 7: 118,372,234 (GRCm39) probably null Het
Vwc2l T C 1: 70,768,070 (GRCm39) F45L probably damaging Het
Xpo7 T C 14: 70,939,195 (GRCm39) T154A probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Nme7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3545:Nme7 UTSW 1 164,213,351 (GRCm39) missense probably damaging 0.99
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
Posted On 2013-06-21