Incidental Mutation 'R4182:Nme1'
ID 319787
Institutional Source Beutler Lab
Gene Symbol Nme1
Ensembl Gene ENSMUSG00000037601
Gene Name NME/NM23 nucleoside diphosphate kinase 1
Synonyms NM23-M1, NDPK-A, non-metastatic cells 1, protein (NM23A) expressed in
MMRRC Submission 041018-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4182 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 93849751-93859341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93851630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 87 (T87I)
Ref Sequence ENSEMBL: ENSMUSP00000103475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021217] [ENSMUST00000021220] [ENSMUST00000107844] [ENSMUST00000135884] [ENSMUST00000170303]
AlphaFold P15532
Predicted Effect probably benign
Transcript: ENSMUST00000021217
SMART Domains Protein: ENSMUSP00000021217
Gene: ENSMUSG00000020857

DomainStartEndE-ValueType
NDK 4 141 2.8e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021220
SMART Domains Protein: ENSMUSP00000021220
Gene: ENSMUSG00000037601

DomainStartEndE-ValueType
NDK 4 127 8.86e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107844
AA Change: T87I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103475
Gene: ENSMUSG00000037601
AA Change: T87I

DomainStartEndE-ValueType
NDK 4 102 4.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135884
SMART Domains Protein: ENSMUSP00000117022
Gene: ENSMUSG00000037601

DomainStartEndE-ValueType
NDK 4 141 5.74e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170303
SMART Domains Protein: ENSMUSP00000132590
Gene: ENSMUSG00000091228

DomainStartEndE-ValueType
NDK 4 118 7.56e-55 SMART
NDK 119 256 2.8e-90 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation of this gene are born normally, but exhibited high perinatal mortality of all genotypes on congenic backgrounds. This appears to be a maternal effect because the presence of a single functioning allele in females can prevent this mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Baz2b A T 2: 59,928,801 (GRCm39) probably benign Het
Bcl9 A G 3: 97,120,999 (GRCm39) probably null Het
Cfap20 A T 8: 96,151,284 (GRCm39) I19N probably damaging Het
Clnk T A 5: 38,905,193 (GRCm39) probably benign Het
Col18a1 C T 10: 76,894,675 (GRCm39) probably null Het
Cux2 C T 5: 122,006,555 (GRCm39) G905D probably damaging Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Ddx59 T A 1: 136,367,599 (GRCm39) S569T probably benign Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnajc21 T C 15: 10,460,019 (GRCm39) probably null Het
Fam217a T C 13: 35,094,239 (GRCm39) T416A possibly damaging Het
Gbp9 T A 5: 105,231,461 (GRCm39) Q375L probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
H2-T24 A T 17: 36,326,376 (GRCm39) N174K possibly damaging Het
Heatr3 T C 8: 88,897,630 (GRCm39) probably benign Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Nbea A G 3: 55,915,848 (GRCm39) C875R probably damaging Het
Nphp3 T C 9: 103,915,663 (GRCm39) S124P probably benign Het
Nrap C T 19: 56,338,759 (GRCm39) V907M probably damaging Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4f59 G T 2: 111,872,873 (GRCm39) P168Q probably damaging Het
Pcdhga8 A G 18: 37,860,336 (GRCm39) N464S probably damaging Het
Pdcd6ip T C 9: 113,529,078 (GRCm39) I75V probably benign Het
Ralgapa2 G A 2: 146,277,914 (GRCm39) P416S probably damaging Het
Saal1 A G 7: 46,360,076 (GRCm39) probably benign Het
Susd5 A G 9: 113,925,053 (GRCm39) E312G probably benign Het
Tgfb2 T A 1: 186,361,222 (GRCm39) D315V possibly damaging Het
Tll1 C T 8: 64,494,545 (GRCm39) D737N probably damaging Het
Tmem115 A G 9: 107,412,482 (GRCm39) T269A probably damaging Het
Ttc39b T C 4: 83,155,538 (GRCm39) D490G probably damaging Het
Vmn1r72 C T 7: 11,403,995 (GRCm39) R151K probably benign Het
Vmn2r74 A T 7: 85,606,395 (GRCm39) F317Y possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zfp560 A G 9: 20,258,744 (GRCm39) I706T probably benign Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Nme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Nme1 APN 11 93,850,317 (GRCm39) missense possibly damaging 0.58
IGL02533:Nme1 APN 11 93,850,257 (GRCm39) missense possibly damaging 0.89
R1695:Nme1 UTSW 11 93,851,593 (GRCm39) missense probably benign 0.37
R2512:Nme1 UTSW 11 93,851,513 (GRCm39) missense possibly damaging 0.73
R4701:Nme1 UTSW 11 93,856,734 (GRCm39) missense probably damaging 1.00
R6928:Nme1 UTSW 11 93,850,229 (GRCm39) missense probably damaging 0.96
R8794:Nme1 UTSW 11 93,851,658 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCAAATTCCTGTGGCAAGTAGC -3'
(R):5'- CATTTCAAAAGATTGCTGGAAGCC -3'

Sequencing Primer
(F):5'- CCTGTGGCAAGTAGCTAGGATTTG -3'
(R):5'- CACACGGATGGGTCTGAATTGATC -3'
Posted On 2015-06-10