Incidental Mutation 'IGL02217:Nme4'
ID284927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nme4
Ensembl Gene ENSMUSG00000024177
Gene NameNME/NM23 nucleoside diphosphate kinase 4
Synonyms2810024O08Rik, 2610027N22Rik, non-metastatic cells 4, protein expressed in, 5730493H09Rik, NM23-M4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.189) question?
Stock #IGL02217
Quality Score
Status
Chromosome17
Chromosomal Location26091734-26095508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26093860 bp
ZygosityHeterozygous
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]
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: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Fkbp6 A T 5: 135,337,630 V284E probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Nme4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Nme4 APN 17 26092062 missense probably benign 0.00
IGL01725:Nme4 APN 17 26092066 missense probably benign 0.05
R0153:Nme4 UTSW 17 26093857 critical splice donor site probably null
R1839:Nme4 UTSW 17 26092097 missense probably damaging 1.00
R2205:Nme4 UTSW 17 26092140 missense possibly damaging 0.95
R4027:Nme4 UTSW 17 26094222 unclassified probably null
R4029:Nme4 UTSW 17 26094222 unclassified probably null
R5023:Nme4 UTSW 17 26093668 missense probably benign 0.11
R5044:Nme4 UTSW 17 26093833 unclassified probably benign
R5635:Nme4 UTSW 17 26094231 missense probably damaging 1.00
Posted On2015-04-16