Incidental Mutation 'IGL02217:Nme4'
ID 284927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme4
Ensembl Gene ENSMUSG00000024177
Gene Name NME/NM23 nucleoside diphosphate kinase 4
Synonyms 5730493H09Rik, 2610027N22Rik, 2810024O08Rik, non-metastatic cells 4, protein expressed in, NM23-M4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02217
Quality Score
Status
Chromosome 17
Chromosomal Location 26310708-26314576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26312834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 108 (M108T)
Ref Sequence ENSEMBL: ENSMUSP00000025007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025007] [ENSMUST00000040907]
AlphaFold Q9WV84
Predicted Effect probably damaging
Transcript: ENSMUST00000025007
AA Change: M108T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025007
Gene: ENSMUSG00000024177
AA Change: M108T

DomainStartEndE-ValueType
NDK 36 173 4.09e-83 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040907
SMART Domains Protein: ENSMUSP00000045621
Gene: ENSMUSG00000036775

DomainStartEndE-ValueType
Blast:NDK 1 28 5e-9 BLAST
Pfam:adh_short 29 224 3.6e-44 PFAM
Pfam:KR 30 208 3.8e-11 PFAM
Pfam:adh_short_C2 35 271 6.4e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150534
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign Het
Other mutations in Nme4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Nme4 APN 17 26,311,036 (GRCm39) missense probably benign 0.00
IGL01725:Nme4 APN 17 26,311,040 (GRCm39) missense probably benign 0.05
R0153:Nme4 UTSW 17 26,312,831 (GRCm39) critical splice donor site probably null
R1839:Nme4 UTSW 17 26,311,071 (GRCm39) missense probably damaging 1.00
R2205:Nme4 UTSW 17 26,311,114 (GRCm39) missense possibly damaging 0.95
R4027:Nme4 UTSW 17 26,313,196 (GRCm39) splice site probably null
R4029:Nme4 UTSW 17 26,313,196 (GRCm39) splice site probably null
R5023:Nme4 UTSW 17 26,312,642 (GRCm39) missense probably benign 0.11
R5044:Nme4 UTSW 17 26,312,807 (GRCm39) unclassified probably benign
R5635:Nme4 UTSW 17 26,313,205 (GRCm39) missense probably damaging 1.00
R7873:Nme4 UTSW 17 26,312,862 (GRCm39) missense probably damaging 1.00
R9133:Nme4 UTSW 17 26,314,389 (GRCm39) missense probably benign
R9134:Nme4 UTSW 17 26,314,389 (GRCm39) missense probably benign
R9168:Nme4 UTSW 17 26,314,389 (GRCm39) missense probably benign
R9170:Nme4 UTSW 17 26,314,389 (GRCm39) missense probably benign
R9776:Nme4 UTSW 17 26,314,410 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16