Incidental Mutation 'R0164:Nmnat1'
ID 24323
Institutional Source Beutler Lab
Gene Symbol Nmnat1
Ensembl Gene ENSMUSG00000028992
Gene Name nicotinamide nucleotide adenylyltransferase 1
Synonyms D4Cole1e, 2610529L11Rik, nicotinamide mononucleotide adenylyl transferase, nmnat, 5730441G13Rik
MMRRC Submission 038440-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0164 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 149552029-149569659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 149553607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 168 (N168K)
Ref Sequence ENSEMBL: ENSMUSP00000101318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921]
AlphaFold Q9EPA7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030845
AA Change: N168K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: N168K

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 230 2.5e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105693
AA Change: N168K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: N168K

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 230 9.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119921
SMART Domains Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 140 9.8e-23 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 69% (18/26)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4930522L14Rik T C 5: 109,884,713 (GRCm39) K382E probably damaging Het
Adck1 A G 12: 88,422,280 (GRCm39) E297G probably damaging Het
Aldh3a2 C T 11: 61,139,714 (GRCm39) V473I probably benign Het
Arfgef3 A T 10: 18,523,663 (GRCm39) I369K possibly damaging Het
Atp1b3 T C 9: 96,220,762 (GRCm39) I178V possibly damaging Het
Axdnd1 T C 1: 156,205,956 (GRCm39) E520G possibly damaging Het
BB019430 A T 10: 58,540,093 (GRCm39) noncoding transcript Het
Btbd1 T A 7: 81,450,751 (GRCm39) Q343L probably benign Het
Catsper1 A G 19: 5,389,503 (GRCm39) T473A possibly damaging Het
Ccn4 T C 15: 66,791,059 (GRCm39) L287P probably damaging Het
Chmp6 G A 11: 119,806,349 (GRCm39) probably null Het
Cstdc7 T A 18: 42,306,608 (GRCm39) D58E probably damaging Het
D130040H23Rik T C 8: 69,755,195 (GRCm39) V200A possibly damaging Het
D830013O20Rik C T 12: 73,411,105 (GRCm39) noncoding transcript Het
Dcaf1 T A 9: 106,721,344 (GRCm39) S379T possibly damaging Het
Dhx58 T C 11: 100,586,150 (GRCm39) I624V probably benign Het
Disp3 T C 4: 148,338,708 (GRCm39) E821G probably damaging Het
Dlc1 T A 8: 37,066,594 (GRCm39) E464V probably damaging Het
Dnah10 G A 5: 124,860,898 (GRCm39) V2151I probably damaging Het
Dnah8 G A 17: 30,967,639 (GRCm39) G2617D probably benign Het
Dnah9 C A 11: 65,809,630 (GRCm39) E872* probably null Het
Dock9 T C 14: 121,835,077 (GRCm39) Y99C probably damaging Het
Dpy19l3 T A 7: 35,416,071 (GRCm39) I310F probably damaging Het
Fggy A T 4: 95,725,891 (GRCm39) I137F probably damaging Het
Gm14012 C T 2: 128,079,936 (GRCm39) noncoding transcript Het
Gm14421 A T 2: 176,748,515 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,812,685 (GRCm39) probably null Het
Incenp A G 19: 9,872,243 (GRCm39) S72P probably benign Het
Klc3 T A 7: 19,128,851 (GRCm39) N469Y possibly damaging Het
Lrrc42 A G 4: 107,104,702 (GRCm39) S88P probably benign Het
Lrrc49 G A 9: 60,587,883 (GRCm39) T93I probably benign Het
Mlycd A T 8: 120,134,380 (GRCm39) Q294L probably damaging Het
Mrpl22 T A 11: 58,062,647 (GRCm39) I19N probably benign Het
Msh3 T A 13: 92,485,717 (GRCm39) K202N probably damaging Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Ncam1 C T 9: 49,479,709 (GRCm39) D90N probably damaging Het
Nckap5 A T 1: 125,952,144 (GRCm39) D1405E possibly damaging Het
Ncoa2 A G 1: 13,256,955 (GRCm39) probably null Het
Nlrp1b A T 11: 71,054,925 (GRCm39) W844R probably damaging Het
Or5b96 A G 19: 12,867,809 (GRCm39) L44P probably damaging Het
Ost4 T C 5: 31,064,803 (GRCm39) H26R probably damaging Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Otogl A T 10: 107,710,391 (GRCm39) I566N probably damaging Het
Pcyt1a T C 16: 32,289,004 (GRCm39) S282P probably damaging Het
Prkcg G A 7: 3,377,635 (GRCm39) E581K probably damaging Het
Ralgps2 A G 1: 156,714,659 (GRCm39) probably null Het
Scmh1 T C 4: 120,387,062 (GRCm39) probably benign Het
Sgo2b T C 8: 64,391,417 (GRCm39) H150R possibly damaging Het
Sh2b3 T G 5: 121,967,100 (GRCm39) T5P probably damaging Het
Tdp2 A G 13: 25,022,222 (GRCm39) M214V probably damaging Het
Tmem204 A G 17: 25,277,324 (GRCm39) I187T probably damaging Het
Tmem208 T G 8: 106,061,326 (GRCm39) D117E probably benign Het
Tnks1bp1 C T 2: 84,889,565 (GRCm39) P631S possibly damaging Het
Tomm70a T C 16: 56,968,184 (GRCm39) V517A probably damaging Het
Ttc7 T C 17: 87,687,323 (GRCm39) V801A probably damaging Het
Txndc5 A T 13: 38,691,929 (GRCm39) C146S probably damaging Het
Ube4b G T 4: 149,444,781 (GRCm39) T493K probably damaging Het
Ufl1 A T 4: 25,256,008 (GRCm39) Y504N probably benign Het
Ulk3 T A 9: 57,497,969 (GRCm39) I90N probably damaging Het
Unc13c T C 9: 73,602,174 (GRCm39) I1357M probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r91 A C 17: 18,326,399 (GRCm39) N228T probably benign Het
Zbtb6 G T 2: 37,319,600 (GRCm39) Y109* probably null Het
Zfp640 G T 13: 66,819,062 (GRCm39) noncoding transcript Het
Zfp640 C A 13: 66,819,038 (GRCm39) noncoding transcript Het
Zfp980 A G 4: 145,428,567 (GRCm39) D432G probably benign Het
Other mutations in Nmnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Nmnat1 APN 4 149,554,135 (GRCm39) missense possibly damaging 0.94
IGL02943:Nmnat1 APN 4 149,557,745 (GRCm39) missense probably damaging 1.00
R0164:Nmnat1 UTSW 4 149,553,607 (GRCm39) missense possibly damaging 0.78
R4363:Nmnat1 UTSW 4 149,557,902 (GRCm39) missense probably benign 0.07
R4583:Nmnat1 UTSW 4 149,553,608 (GRCm39) missense possibly damaging 0.55
R4835:Nmnat1 UTSW 4 149,557,802 (GRCm39) missense possibly damaging 0.92
R4991:Nmnat1 UTSW 4 149,553,584 (GRCm39) missense possibly damaging 0.94
R5073:Nmnat1 UTSW 4 149,553,595 (GRCm39) missense probably benign 0.01
R5850:Nmnat1 UTSW 4 149,554,124 (GRCm39) nonsense probably null
R7249:Nmnat1 UTSW 4 149,554,099 (GRCm39) missense probably null 0.06
R7471:Nmnat1 UTSW 4 149,557,758 (GRCm39) missense probably damaging 1.00
R7602:Nmnat1 UTSW 4 149,557,808 (GRCm39) missense probably benign
R8478:Nmnat1 UTSW 4 149,557,841 (GRCm39) missense possibly damaging 0.67
R8480:Nmnat1 UTSW 4 149,557,827 (GRCm39) missense possibly damaging 0.95
R9036:Nmnat1 UTSW 4 149,553,482 (GRCm39) missense probably damaging 0.99
R9742:Nmnat1 UTSW 4 149,553,338 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2013-04-16