Incidental Mutation 'IGL01357:Nme1'
ID75569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme1
Ensembl Gene ENSMUSG00000037601
Gene NameNME/NM23 nucleoside diphosphate kinase 1
SynonymsNDPK-A, non-metastatic cells 1, protein (NM23A) expressed in, NM23-M1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01357
Quality Score
Status
Chromosome11
Chromosomal Location93956979-93968521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93959491 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000117022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021217] [ENSMUST00000021220] [ENSMUST00000072566] [ENSMUST00000107844] [ENSMUST00000135884] [ENSMUST00000170303]
Predicted Effect probably benign
Transcript: ENSMUST00000021217
SMART Domains Protein: ENSMUSP00000021217
Gene: ENSMUSG00000020857

DomainStartEndE-ValueType
NDK 4 141 2.8e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000021220
AA Change: S122P

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021220
Gene: ENSMUSG00000037601
AA Change: S122P

DomainStartEndE-ValueType
NDK 4 127 8.86e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072566
SMART Domains Protein: ENSMUSP00000103476
Gene: ENSMUSG00000020857

DomainStartEndE-ValueType
NDK 4 141 2.8e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107844
SMART Domains Protein: ENSMUSP00000103475
Gene: ENSMUSG00000037601

DomainStartEndE-ValueType
NDK 4 102 4.83e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135884
AA Change: S122P

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117022
Gene: ENSMUSG00000037601
AA Change: S122P

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
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 (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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
L3mbtl3 T A 10: 26,330,185 N361I unknown Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mal C A 2: 127,640,314 M56I probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Mmaa C A 8: 79,267,971 R402L probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmem243 A G 5: 9,101,348 T11A probably damaging Het
Tmprss11c A G 5: 86,231,807 V401A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in Nme1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02533:Nme1 APN 11 93959431 missense possibly damaging 0.89
R1695:Nme1 UTSW 11 93960767 missense probably benign 0.37
R2512:Nme1 UTSW 11 93960687 missense possibly damaging 0.73
R4182:Nme1 UTSW 11 93960804 missense probably benign 0.00
R4701:Nme1 UTSW 11 93965908 missense probably damaging 1.00
R6928:Nme1 UTSW 11 93959403 missense probably damaging 0.96
Posted On2013-10-07