Incidental Mutation 'R8394:Nme6'
ID 647531
Institutional Source Beutler Lab
Gene Symbol Nme6
Ensembl Gene ENSMUSG00000032478
Gene Name NME/NM23 nucleoside diphosphate kinase 6
Synonyms non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase), nm23-M6
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8394 (G1)
Quality Score 216.009
Status Not validated
Chromosome 9
Chromosomal Location 109661830-109672042 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 109664394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000035053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035053] [ENSMUST00000197627] [ENSMUST00000199758] [ENSMUST00000200005] [ENSMUST00000200345] [ENSMUST00000200468]
AlphaFold O88425
Predicted Effect probably null
Transcript: ENSMUST00000035053
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035053
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
NDK 11 152 5.9e-66 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197627
AA Change: M1K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142778
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
Pfam:NDK 12 91 2.2e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199758
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143591
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
NDK 11 79 2.9e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200005
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142609
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
NDK 11 152 5.9e-66 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200345
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142392
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
NDK 11 115 1.9e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000200468
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143021
Gene: ENSMUSG00000032478
AA Change: M1K

DomainStartEndE-ValueType
NDK 11 152 5.9e-66 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G probably damaging Het
Other mutations in Nme6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02439:Nme6 APN 9 109,670,999 (GRCm39) missense probably damaging 1.00
IGL03196:Nme6 APN 9 109,670,561 (GRCm39) missense probably damaging 1.00
PIT4585001:Nme6 UTSW 9 109,671,104 (GRCm39) missense possibly damaging 0.89
R1977:Nme6 UTSW 9 109,664,409 (GRCm39) missense probably damaging 1.00
R2971:Nme6 UTSW 9 109,671,159 (GRCm39) splice site probably benign
R4494:Nme6 UTSW 9 109,671,122 (GRCm39) missense probably damaging 1.00
R5183:Nme6 UTSW 9 109,670,557 (GRCm39) nonsense probably null
R7909:Nme6 UTSW 9 109,671,036 (GRCm39) missense probably damaging 1.00
R8090:Nme6 UTSW 9 109,671,019 (GRCm39) nonsense probably null
R8889:Nme6 UTSW 9 109,668,706 (GRCm39) missense probably damaging 0.99
R8892:Nme6 UTSW 9 109,668,706 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACGTGTGTCTCACAGGGTAAC -3'
(R):5'- TCTACCACATGACTGAAGTGTTTG -3'

Sequencing Primer
(F):5'- TCCACGATCTCATGAGTGCAAATAG -3'
(R):5'- ACATGACTGAAGTGTTTGTTGCCAC -3'
Posted On 2020-09-02