Incidental Mutation 'R0580:Nnmt'
ID 56398
Institutional Source Beutler Lab
Gene Symbol Nnmt
Ensembl Gene ENSMUSG00000032271
Gene Name nicotinamide N-methyltransferase
Synonyms
MMRRC Submission 038770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0580 (G1)
Quality Score 93
Status Validated
Chromosome 9
Chromosomal Location 48503177-48516453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48503600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 142 (D142G)
Ref Sequence ENSEMBL: ENSMUSP00000034808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034808] [ENSMUST00000119426]
AlphaFold O55239
PDB Structure Mouse Nicotinamide N-methyltransferase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034808
AA Change: D142G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034808
Gene: ENSMUSG00000032271
AA Change: D142G

DomainStartEndE-ValueType
Pfam:NNMT_PNMT_TEMT 1 259 7.4e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119426
SMART Domains Protein: ENSMUSP00000112381
Gene: ENSMUSG00000032271

DomainStartEndE-ValueType
Pfam:NNMT_PNMT_TEMT 1 140 2.9e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136813
Meta Mutation Damage Score 0.7304 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 93.7%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,784,470 (GRCm39) D314E probably damaging Het
Abcc10 C T 17: 46,616,882 (GRCm39) probably null Het
Adgrg5 T C 8: 95,663,972 (GRCm39) probably null Het
Akap12 A T 10: 4,304,741 (GRCm39) D517V possibly damaging Het
Arhgap23 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 11: 97,337,362 (GRCm39) probably null Het
Bpi A T 2: 158,100,215 (GRCm39) M1L probably damaging Het
Carm1 C T 9: 21,494,880 (GRCm39) P339S probably damaging Het
Chchd3 A C 6: 32,870,325 (GRCm39) probably null Het
Chd9 T C 8: 91,721,191 (GRCm39) V520A possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Col10a1 A G 10: 34,270,948 (GRCm39) R307G probably benign Het
Cpeb3 T C 19: 37,151,435 (GRCm39) T314A probably benign Het
Csmd1 A T 8: 15,960,528 (GRCm39) Y3296N probably damaging Het
Dtx2 A T 5: 136,061,180 (GRCm39) T521S probably damaging Het
Ext2 A T 2: 93,626,070 (GRCm39) V330E probably benign Het
Extl3 A G 14: 65,313,178 (GRCm39) L668P probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Grm8 A G 6: 27,761,370 (GRCm39) probably benign Het
Herc2 T A 7: 55,788,539 (GRCm39) V1763D probably damaging Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqce A G 5: 140,651,156 (GRCm39) F768L possibly damaging Het
Kntc1 G A 5: 123,941,732 (GRCm39) V1809I probably benign Het
Lyzl1 A C 18: 4,181,134 (GRCm39) T58P probably damaging Het
Mlxipl A G 5: 135,152,829 (GRCm39) T287A probably benign Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Net1 A G 13: 3,936,612 (GRCm39) Y264H probably damaging Het
Nod2 T A 8: 89,391,034 (GRCm39) I432N probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or2y1g T A 11: 49,171,449 (GRCm39) I158N probably damaging Het
Or6b6 A G 7: 106,571,447 (GRCm39) Y35H probably damaging Het
Pign A C 1: 105,519,419 (GRCm39) I501S probably benign Het
Scgb2b19 A T 7: 32,977,995 (GRCm39) S101T probably benign Het
Slc7a5 A T 8: 122,611,855 (GRCm39) M391K probably benign Het
Sptan1 A G 2: 29,897,587 (GRCm39) R1217G probably damaging Het
Srgap2 A G 1: 131,277,239 (GRCm39) V336A possibly damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Syt10 A T 15: 89,711,379 (GRCm39) D51E probably benign Het
Vmn2r96 T C 17: 18,802,900 (GRCm39) V270A probably damaging Het
Other mutations in Nnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Nnmt APN 9 48,503,224 (GRCm39) utr 3 prime probably benign
IGL02010:Nnmt APN 9 48,503,331 (GRCm39) missense probably damaging 0.99
IGL02399:Nnmt APN 9 48,514,838 (GRCm39) missense probably damaging 1.00
IGL02593:Nnmt APN 9 48,516,103 (GRCm39) critical splice donor site probably null
IGL03155:Nnmt APN 9 48,503,352 (GRCm39) missense probably damaging 1.00
R0243:Nnmt UTSW 9 48,503,438 (GRCm39) missense probably benign 0.01
R1661:Nnmt UTSW 9 48,516,174 (GRCm39) missense probably benign 0.01
R5572:Nnmt UTSW 9 48,503,447 (GRCm39) missense probably damaging 1.00
R5692:Nnmt UTSW 9 48,514,780 (GRCm39) missense probably benign
R6599:Nnmt UTSW 9 48,514,669 (GRCm39) missense probably benign 0.29
R7475:Nnmt UTSW 9 48,503,532 (GRCm39) missense probably damaging 1.00
R7785:Nnmt UTSW 9 48,503,309 (GRCm39) missense probably benign 0.05
R8870:Nnmt UTSW 9 48,514,801 (GRCm39) missense probably damaging 1.00
R9025:Nnmt UTSW 9 48,503,461 (GRCm39) missense probably damaging 1.00
R9060:Nnmt UTSW 9 48,503,367 (GRCm39) missense probably benign
R9623:Nnmt UTSW 9 48,503,660 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGGCATCTACCATCACCAGGAAG -3'
(R):5'- TGCAGTTTGACAGAGGTCAAGGAC -3'

Sequencing Primer
(F):5'- AGGAAGCCTCCTGGCTTG -3'
(R):5'- CCCAGCTTTGGATCATACTGTAGG -3'
Posted On 2013-07-11