Incidental Mutation 'R5462:Nt5m'
ID 433075
Institutional Source Beutler Lab
Gene Symbol Nt5m
Ensembl Gene ENSMUSG00000032615
Gene Name 5',3'-nucleotidase, mitochondrial
Synonyms dNT-2, 2010013E09Rik
MMRRC Submission 043024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5462 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59730233-59767359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59765385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 138 (W138R)
Ref Sequence ENSEMBL: ENSMUSP00000099756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102695]
AlphaFold Q8VCE6
Predicted Effect probably damaging
Transcript: ENSMUST00000102695
AA Change: W138R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099756
Gene: ENSMUSG00000032615
AA Change: W138R

DomainStartEndE-ValueType
Pfam:NT5C 26 219 2.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154699
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
4933412E24Rik A G 15: 59,886,917 (GRCm39) F508L probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Amz1 A G 5: 140,733,976 (GRCm39) Y184C probably damaging Het
Calm3 A T 7: 16,651,619 (GRCm39) D23E possibly damaging Het
Cep112 T A 11: 108,409,570 (GRCm39) N479K probably damaging Het
Cfap251 T C 5: 123,436,695 (GRCm39) probably null Het
Csmd1 A C 8: 16,011,486 (GRCm39) N2522K probably benign Het
Dhx30 A G 9: 109,930,042 (GRCm39) L18P probably damaging Het
E2f2 A T 4: 135,900,224 (GRCm39) T45S probably benign Het
Grk3 T C 5: 113,117,074 (GRCm39) Y67C probably damaging Het
Htt T A 5: 35,042,851 (GRCm39) C2290* probably null Het
Igsf10 T C 3: 59,233,175 (GRCm39) T1853A probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mast2 A G 4: 116,164,655 (GRCm39) L1587P probably damaging Het
Mdn1 A G 4: 32,720,897 (GRCm39) N2337D probably benign Het
Mettl3 T C 14: 52,537,336 (GRCm39) Q182R probably damaging Het
Mterf1b A G 5: 4,246,541 (GRCm39) S61G probably benign Het
Mycbp2 T C 14: 103,437,562 (GRCm39) Y2100C probably damaging Het
Or5g29 A G 2: 85,421,640 (GRCm39) Y252C probably damaging Het
Prex1 A G 2: 166,486,728 (GRCm39) Y114H probably benign Het
Rasa2 A T 9: 96,453,971 (GRCm39) S322T probably damaging Het
Sis A T 3: 72,857,171 (GRCm39) D373E probably damaging Het
Snx29 A T 16: 11,328,876 (GRCm39) M552L possibly damaging Het
Sptbn1 G T 11: 30,050,520 (GRCm39) F2356L possibly damaging Het
Tbc1d10c G T 19: 4,238,052 (GRCm39) Q241K probably benign Het
Vmn1r222 A G 13: 23,417,045 (GRCm39) I56T probably benign Het
Vmn2r111 T C 17: 22,767,238 (GRCm39) Y753C probably damaging Het
Vmn2r37 A G 7: 9,220,973 (GRCm39) W297R probably damaging Het
Zbtb47 G T 9: 121,596,729 (GRCm39) R695L probably damaging Het
Zfp267 C T 3: 36,219,969 (GRCm39) T664I possibly damaging Het
Other mutations in Nt5m
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4520001:Nt5m UTSW 11 59,765,415 (GRCm39) missense probably benign 0.31
R0442:Nt5m UTSW 11 59,765,445 (GRCm39) missense possibly damaging 0.92
R2201:Nt5m UTSW 11 59,766,741 (GRCm39) missense probably benign 0.14
R2237:Nt5m UTSW 11 59,743,696 (GRCm39) missense probably benign 0.00
R4487:Nt5m UTSW 11 59,739,173 (GRCm39) missense probably damaging 1.00
R4976:Nt5m UTSW 11 59,765,381 (GRCm39) nonsense probably null
R5156:Nt5m UTSW 11 59,765,487 (GRCm39) missense probably damaging 1.00
R5476:Nt5m UTSW 11 59,766,733 (GRCm39) missense probably damaging 0.96
R5687:Nt5m UTSW 11 59,743,649 (GRCm39) missense probably benign 0.31
R7982:Nt5m UTSW 11 59,739,157 (GRCm39) missense possibly damaging 0.61
Z1177:Nt5m UTSW 11 59,765,382 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TTCTAGGGGACAAGTATGCAGG -3'
(R):5'- AACCTCCTGGCTGGGTATTG -3'

Sequencing Primer
(F):5'- GTATGCAGGTACACAGCTCC -3'
(R):5'- CTCCTGGCTGGGTATTGCTAAATAC -3'
Posted On 2016-10-06