Incidental Mutation 'R4487:Nt5m'
ID 331663
Institutional Source Beutler Lab
Gene Symbol Nt5m
Ensembl Gene ENSMUSG00000032615
Gene Name 5',3'-nucleotidase, mitochondrial
Synonyms dNT-2, 2010013E09Rik
MMRRC Submission 041743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4487 (G1)
Quality Score 202
Status Validated
Chromosome 11
Chromosomal Location 59730233-59767359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59739173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 73 (Y73C)
Ref Sequence ENSEMBL: ENSMUSP00000099756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102695]
AlphaFold Q8VCE6
Predicted Effect probably damaging
Transcript: ENSMUST00000102695
AA Change: Y73C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099756
Gene: ENSMUSG00000032615
AA Change: Y73C

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
Meta Mutation Damage Score 0.7791 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,931 (GRCm39) L99P probably damaging Het
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adgrv1 A G 13: 81,588,185 (GRCm39) I4467T probably damaging Het
Ash1l T A 3: 88,892,622 (GRCm39) D1500E possibly damaging Het
C1ql2 A T 1: 120,269,409 (GRCm39) Y188F possibly damaging Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crybg2 T C 4: 133,801,512 (GRCm39) S891P probably benign Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Htr1b A T 9: 81,513,592 (GRCm39) D338E probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif9 A G 9: 110,323,552 (GRCm39) E225G probably null Het
Krt76 T C 15: 101,798,917 (GRCm39) K256R possibly damaging Het
Mapk4 T C 18: 74,064,046 (GRCm39) D392G probably damaging Het
Mthfr A G 4: 148,135,884 (GRCm39) K278R probably benign Het
Mup4 T A 4: 59,960,547 (GRCm39) E18V probably damaging Het
Nepro A G 16: 44,556,089 (GRCm39) K416E probably damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nmu A G 5: 76,491,909 (GRCm39) probably null Het
Oaz3 A T 3: 94,342,437 (GRCm39) probably null Het
Pgap1 A G 1: 54,567,751 (GRCm39) S365P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pus7l A G 15: 94,429,498 (GRCm39) I440T possibly damaging Het
Raph1 C T 1: 60,542,028 (GRCm39) S362N possibly damaging Het
Rftn2 A G 1: 55,241,311 (GRCm39) Y330H possibly damaging Het
Rhot2 G A 17: 26,058,467 (GRCm39) H580Y probably benign Het
Rnase2a A T 14: 51,493,302 (GRCm39) M21K unknown Het
Rusf1 T C 7: 127,887,530 (GRCm39) D24G probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Snx1 A T 9: 65,996,877 (GRCm39) V459E possibly damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tg G A 15: 66,543,245 (GRCm39) C53Y probably damaging Het
Tor1aip1 G T 1: 155,882,870 (GRCm39) T326K probably damaging Het
Vmn1r61 C A 7: 5,613,924 (GRCm39) C130F possibly damaging Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null 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
R4976:Nt5m UTSW 11 59,765,381 (GRCm39) nonsense probably null
R5156:Nt5m UTSW 11 59,765,487 (GRCm39) missense probably damaging 1.00
R5462:Nt5m UTSW 11 59,765,385 (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'- TTTCACAGGCGGCTGTAACC -3'
(R):5'- AATGGTTGGTCCCTCTAGCC -3'

Sequencing Primer
(F):5'- CTGGGCGCATGTCCCTTTAAG -3'
(R):5'- AGCCCTGTAGCCCTAGTC -3'
Posted On 2015-07-21