Incidental Mutation 'R8726:Nmrk1'
ID662469
Institutional Source Beutler Lab
Gene Symbol Nmrk1
Ensembl Gene ENSMUSG00000037847
Gene Namenicotinamide riboside kinase 1
SynonymsD630020N23Rik, BC016495
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8726 (G1)
Quality Score225.009
Status Not validated
Chromosome19
Chromosomal Location18631950-18652194 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18639538 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 17 (T17M)
Ref Sequence ENSEMBL: ENSMUSP00000125384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042392] [ENSMUST00000159572] [ENSMUST00000161080]
Predicted Effect probably damaging
Transcript: ENSMUST00000042392
AA Change: T17M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037198
Gene: ENSMUSG00000037847
AA Change: T17M

DomainStartEndE-ValueType
Pfam:AAA_17 5 191 1.4e-7 PFAM
Pfam:AAA_18 6 149 7.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159061
Predicted Effect probably damaging
Transcript: ENSMUST00000159572
AA Change: T17M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125384
Gene: ENSMUSG00000037847
AA Change: T17M

DomainStartEndE-ValueType
Pfam:AAA_17 5 192 1.6e-7 PFAM
Pfam:AAA_18 6 162 6.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162446
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik A G 11: 69,898,381 S331P possibly damaging Het
4930433I11Rik A G 7: 40,994,802 M632V probably benign Het
9930111J21Rik2 A C 11: 49,019,680 V642G probably damaging Het
Acsbg1 T C 9: 54,618,178 E363G probably damaging Het
Ank3 T A 10: 69,987,254 H584Q Het
Ankrd11 A T 8: 122,894,026 L1029Q possibly damaging Het
Anpep C T 7: 79,840,893 V292I probably benign Het
Atmin G A 8: 116,954,786 D175N possibly damaging Het
B4galt6 T C 18: 20,688,393 I359M possibly damaging Het
Bicd2 A G 13: 49,379,429 D497G probably damaging Het
Camkk2 G T 5: 122,743,939 D418E probably benign Het
Cntn3 A T 6: 102,169,053 Y942* probably null Het
Col8a1 C T 16: 57,628,775 R124H probably damaging Het
Coro7 T C 16: 4,668,755 T185A possibly damaging Het
Creb3 C T 4: 43,566,747 P364S probably benign Het
Csf1r A T 18: 61,117,656 T480S probably benign Het
Csnk1g1 T A 9: 66,002,271 H223Q probably damaging Het
Ctns C T 11: 73,187,787 V171M probably benign Het
Dhx15 A T 5: 52,154,226 N637K probably benign Het
Eif4g1 T C 16: 20,675,482 Y103H probably damaging Het
Eif4g2 C T 7: 111,077,422 R295H probably damaging Het
Fam126b T C 1: 58,546,126 T171A possibly damaging Het
Fat1 C T 8: 45,024,169 P2084L probably benign Het
Fat4 A G 3: 39,010,498 R4868G probably damaging Het
Fbxo31 A T 8: 121,555,275 Y295* probably null Het
Fmn2 C A 1: 174,609,838 T1125N possibly damaging Het
Foxi2 C A 7: 135,410,404 P7Q probably damaging Het
Hmx1 C T 5: 35,391,756 P131L probably damaging Het
Hrh2 T C 13: 54,214,152 L49P probably damaging Het
Igkv6-14 A G 6: 70,435,141 V53A possibly damaging Het
Kcnb2 C A 1: 15,710,652 Q583K probably benign Het
Kcns3 A G 12: 11,091,691 S336P probably damaging Het
Kremen2 G T 17: 23,742,746 F262L probably damaging Het
Krtap9-1 T A 11: 99,873,751 C104* probably null Het
Ky A G 9: 102,527,903 Y199C probably damaging Het
L1td1 T G 4: 98,733,978 L259R probably damaging Het
Lrba A G 3: 86,353,755 T1473A probably benign Het
Lrp6 A T 6: 134,507,661 L333* probably null Het
Lrrc23 T C 6: 124,776,080 N201S probably benign Het
Map4k4 C A 1: 40,003,982 P666T possibly damaging Het
Matn1 T A 4: 130,952,203 D389E probably damaging Het
Mdc1 G T 17: 35,847,583 G285V probably benign Het
Mettl17 T C 14: 51,890,730 probably null Het
Neurod1 A T 2: 79,454,086 F318I possibly damaging Het
Nfya T C 17: 48,392,417 T213A probably damaging Het
Ntrk1 A C 3: 87,786,089 D245E probably benign Het
Nup160 C A 2: 90,733,201 H1370Q possibly damaging Het
Olfr1151 T C 2: 87,857,817 V214A probably benign Het
Olfr745 A C 14: 50,643,246 K316Q probably benign Het
Olfr986 T A 9: 40,187,367 V84E probably damaging Het
Parp4 G A 14: 56,629,099 R1040H probably benign Het
Pdia4 C A 6: 47,808,266 E56* probably null Het
Pdia5 A G 16: 35,449,414 F175S probably damaging Het
Piezo2 C T 18: 63,109,885 S621N probably benign Het
Pigw T C 11: 84,877,817 T229A possibly damaging Het
Rasa3 T C 8: 13,576,381 Y734C probably benign Het
Rims1 T C 1: 22,594,100 D178G possibly damaging Het
Rps7 A G 12: 28,631,715 I139T probably benign Het
Sall3 T C 18: 80,986,493 D15G possibly damaging Het
Scn1a A T 2: 66,303,639 V137D probably benign Het
Slc23a3 G A 1: 75,129,529 P349S probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,656,691 probably benign Het
Stard13 A T 5: 151,063,142 M301K probably benign Het
Suclg2 A G 6: 95,655,508 F60S probably damaging Het
Tecpr2 T A 12: 110,938,234 F887L possibly damaging Het
Tekt4 G T 17: 25,472,059 W113L probably damaging Het
Tep1 G A 14: 50,847,623 S901F probably damaging Het
Tex11 C T X: 101,015,585 V190I possibly damaging Het
Thbs1 T A 2: 118,119,476 probably null Het
Tm9sf4 T A 2: 153,198,375 V425D probably damaging Het
Tpo A G 12: 30,055,138 L911P possibly damaging Het
Ttn T C 2: 76,898,957 Q5332R unknown Het
Wdr59 A T 8: 111,496,834 D169E Het
Zfp799 C A 17: 32,820,192 G367C probably damaging Het
Other mutations in Nmrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Nmrk1 APN 19 18645147 unclassified probably benign
IGL01765:Nmrk1 APN 19 18639538 missense probably damaging 1.00
IGL02818:Nmrk1 APN 19 18641259 missense probably damaging 1.00
R0104:Nmrk1 UTSW 19 18641218 missense probably benign 0.01
R0726:Nmrk1 UTSW 19 18641480 unclassified probably benign
R2109:Nmrk1 UTSW 19 18641438 missense probably damaging 1.00
R4706:Nmrk1 UTSW 19 18645127 missense probably benign 0.01
R4810:Nmrk1 UTSW 19 18639909 missense probably benign 0.00
R5470:Nmrk1 UTSW 19 18639884 critical splice acceptor site probably null
R5619:Nmrk1 UTSW 19 18645088 missense possibly damaging 0.69
R5770:Nmrk1 UTSW 19 18645074 missense probably benign 0.00
R7489:Nmrk1 UTSW 19 18642242 missense probably damaging 1.00
R7489:Nmrk1 UTSW 19 18642243 missense possibly damaging 0.94
R7659:Nmrk1 UTSW 19 18636135 missense probably benign 0.03
R7662:Nmrk1 UTSW 19 18642178 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAAACCTGTGATTTCACCTGC -3'
(R):5'- TGGTCACTGACAGATGGTGC -3'

Sequencing Primer
(F):5'- CTGCAAAACAAAACATGGTCTGTG -3'
(R):5'- CCTCTAGTGGGCAGGTAACACTATG -3'
Posted On2021-03-08