Incidental Mutation 'R4583:Nmnat1'
ID 343808
Institutional Source Beutler Lab
Gene Symbol Nmnat1
Ensembl Gene ENSMUSG00000028992
Gene Name nicotinamide nucleotide adenylyltransferase 1
Synonyms nmnat, 5730441G13Rik, nicotinamide mononucleotide adenylyl transferase, D4Cole1e, 2610529L11Rik
MMRRC Submission 041804-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4583 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 149467572-149485202 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149469151 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 168 (N168S)
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: N168S

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: N168S

Pfam:CTP_transf_2 12 230 2.5e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105693
AA Change: N168S

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: N168S

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

Pfam:CTP_transf_2 12 140 9.8e-23 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,574,592 (GRCm38) L86P unknown Het
Aimp1 C T 3: 132,677,047 (GRCm38) E23K probably damaging Het
Ap2b1 A T 11: 83,397,779 (GRCm38) N884I probably benign Het
Apoe G T 7: 19,697,498 (GRCm38) Q65K possibly damaging Het
Arhgef1 T A 7: 24,912,571 (GRCm38) D93E probably benign Het
Arhgef12 G T 9: 42,977,662 (GRCm38) T1085K probably damaging Het
Arid5a T C 1: 36,317,664 (GRCm38) probably null Het
Atp9a A T 2: 168,689,360 (GRCm38) probably null Het
Baz1a T C 12: 54,922,540 (GRCm38) I635V probably damaging Het
Bbs10 A G 10: 111,301,134 (GRCm38) K703E probably benign Het
Cckar T A 5: 53,699,782 (GRCm38) M429L probably benign Het
Ccl3 A T 11: 83,648,338 (GRCm38) L65Q probably benign Het
Ccr3 A G 9: 124,029,440 (GRCm38) T271A probably benign Het
Cd8b1 T A 6: 71,326,097 (GRCm38) I52N probably damaging Het
Cdh15 G A 8: 122,865,028 (GRCm38) E551K probably damaging Het
Cdh17 A G 4: 11,810,466 (GRCm38) K719R probably benign Het
Cfap43 T C 19: 47,837,216 (GRCm38) R38G probably null Het
Chd6 T C 2: 161,014,194 (GRCm38) E715G probably damaging Het
Cldn34b2 T A X: 155,125,629 (GRCm38) R68* probably null Het
Col19a1 T G 1: 24,561,329 (GRCm38) D44A unknown Het
Colgalt2 C T 1: 152,506,876 (GRCm38) S493F probably damaging Het
Cr1l T C 1: 195,129,831 (GRCm38) I99M probably damaging Het
Crybg1 T C 10: 43,997,620 (GRCm38) E1164G probably damaging Het
Cym G T 3: 107,211,402 (GRCm38) D367E probably damaging Het
Dennd2a G T 6: 39,522,842 (GRCm38) T263K probably damaging Het
Dhx9 T A 1: 153,460,303 (GRCm38) M869L probably damaging Het
Dnm2 A G 9: 21,504,446 (GRCm38) H692R probably damaging Het
Ern1 A T 11: 106,407,205 (GRCm38) S697T probably damaging Het
F12 G A 13: 55,421,130 (GRCm38) T273I probably benign Het
Fam151b A T 13: 92,468,109 (GRCm38) L124Q probably damaging Het
Fancg A G 4: 43,002,991 (GRCm38) V622A probably benign Het
Fbxo2 T A 4: 148,164,899 (GRCm38) N159K possibly damaging Het
Fgd2 C A 17: 29,367,078 (GRCm38) T212K possibly damaging Het
Fhl3 T A 4: 124,707,549 (GRCm38) D178E probably benign Het
Filip1 G T 9: 79,815,809 (GRCm38) A1176D possibly damaging Het
Fndc1 T C 17: 7,739,249 (GRCm38) Y1722C probably damaging Het
Frem3 T C 8: 80,613,514 (GRCm38) V812A probably benign Het
Fsip2 A G 2: 82,978,673 (GRCm38) I1779V probably benign Het
Gli2 C T 1: 118,842,068 (GRCm38) V585I probably benign Het
Gm15056 C G 8: 20,900,681 (GRCm38) S80T probably benign Het
Gm4951 T C 18: 60,246,080 (GRCm38) I229T possibly damaging Het
Gm5145 A G 17: 20,570,453 (GRCm38) E31G probably benign Het
Gmfg A G 7: 28,445,944 (GRCm38) Y71C probably damaging Het
Grk1 A G 8: 13,409,322 (GRCm38) E291G probably damaging Het
Gtpbp1 A G 15: 79,715,951 (GRCm38) E393G possibly damaging Het
Gtpbp2 A G 17: 46,161,145 (GRCm38) D2G probably damaging Het
Hc A T 2: 35,028,177 (GRCm38) V698E probably benign Het
Helz G A 11: 107,646,069 (GRCm38) R249H probably damaging Het
Hmcn2 A G 2: 31,413,265 (GRCm38) I2973V possibly damaging Het
Hnrnpa3 A G 2: 75,663,606 (GRCm38) R286G probably benign Het
Hus1b A T 13: 30,947,518 (GRCm38) W53R probably damaging Het
Hydin C T 8: 110,595,225 (GRCm38) T4503I probably benign Het
Ighmbp2 G C 19: 3,265,324 (GRCm38) P699A probably benign Het
Igkv1-122 A T 6: 68,017,458 (GRCm38) Y110F probably benign Het
Igkv8-28 T C 6: 70,143,620 (GRCm38) Y113C probably damaging Het
Il16 A G 7: 83,682,899 (GRCm38) S158P probably damaging Het
Kalrn T A 16: 34,235,267 (GRCm38) H876L probably damaging Het
Kdm5d T A Y: 914,134 (GRCm38) L357H probably damaging Het
Krt78 T C 15: 101,946,620 (GRCm38) T919A possibly damaging Het
L3mbtl2 T C 15: 81,684,906 (GRCm38) C594R probably damaging Het
Lcorl A T 5: 45,733,589 (GRCm38) L474* probably null Het
Lgals3 A T 14: 47,381,687 (GRCm38) probably null Het
Lnx1 C T 5: 74,610,796 (GRCm38) V350I probably benign Het
Lpcat3 T G 6: 124,703,323 (GRCm38) W429G possibly damaging Het
Lrp1 T C 10: 127,541,372 (GRCm38) T4149A probably benign Het
Memo1 G A 17: 74,258,461 (GRCm38) Q36* probably null Het
Micalcl A G 7: 112,412,947 (GRCm38) N668S probably benign Het
Ms4a10 A T 19: 10,968,189 (GRCm38) I76N possibly damaging Het
Mthfr T G 4: 148,051,872 (GRCm38) L362V possibly damaging Het
Myh3 T A 11: 67,096,453 (GRCm38) Y1376* probably null Het
Mymk C A 2: 27,062,280 (GRCm38) V192F probably benign Het
Myo1c A G 11: 75,671,862 (GRCm38) D966G possibly damaging Het
Ncam2 A G 16: 81,517,557 (GRCm38) N474D probably damaging Het
Nmur1 C T 1: 86,386,645 (GRCm38) V323M possibly damaging Het
Npr2 C A 4: 43,633,522 (GRCm38) probably null Het
Nsd3 T A 8: 25,710,676 (GRCm38) M1265K probably benign Het
Olfr1206 G T 2: 88,865,494 (GRCm38) M296I probably benign Het
Olfr1212 T A 2: 88,959,212 (GRCm38) F249I probably damaging Het
Olfr1462 T A 19: 13,190,698 (GRCm38) F10L probably damaging Het
Olfr152 T C 2: 87,783,221 (GRCm38) V227A possibly damaging Het
Olfr155 A G 4: 43,855,262 (GRCm38) T318A probably benign Het
Olfr345 A C 2: 36,640,614 (GRCm38) T192P probably damaging Het
Olfr394 T C 11: 73,887,803 (GRCm38) T190A probably damaging Het
Olfr812 T C 10: 129,842,475 (GRCm38) D189G probably damaging Het
Otub1 G A 19: 7,204,436 (GRCm38) A25V possibly damaging Het
Paqr3 T A 5: 97,108,210 (GRCm38) R102* probably null Het
Patl2 A G 2: 122,126,745 (GRCm38) S103P probably benign Het
Pcdhb15 A T 18: 37,475,575 (GRCm38) H620L possibly damaging Het
Pdgfc A T 3: 81,141,528 (GRCm38) D81V possibly damaging Het
Pdia2 T C 17: 26,196,502 (GRCm38) D447G probably damaging Het
Pold1 C A 7: 44,538,913 (GRCm38) A514S probably damaging Het
Pomgnt1 C T 4: 116,158,494 (GRCm38) T552I probably benign Het
Ppl T C 16: 5,104,536 (GRCm38) E294G probably benign Het
Pramef8 A G 4: 143,416,754 (GRCm38) Y30C probably damaging Het
Prkcb A G 7: 122,457,224 (GRCm38) S100G probably benign Het
Psg16 T G 7: 17,095,172 (GRCm38) I227S probably benign Het
Rbbp6 AAAGAAGAAGAAGAAGAAG AAAGAAGAAGAAGAAG 7: 123,001,952 (GRCm38) probably benign Het
Reck T C 4: 43,931,062 (GRCm38) probably null Het
Rrbp1 C T 2: 143,988,751 (GRCm38) G499S probably benign Het
Sema6d G T 2: 124,664,162 (GRCm38) R630L probably damaging Het
Slc29a1 A G 17: 45,589,956 (GRCm38) V94A possibly damaging Het
Slc35a1 T A 4: 34,664,146 (GRCm38) Q324L probably benign Het
Slc35c1 A T 2: 92,458,921 (GRCm38) L80Q probably damaging Het
Slc7a10 G T 7: 35,197,952 (GRCm38) probably null Het
Srrm2 C T 17: 23,819,619 (GRCm38) probably benign Het
Stk38 T G 17: 28,982,156 (GRCm38) D182A probably damaging Het
Tas2r104 C T 6: 131,685,435 (GRCm38) G104S probably benign Het
Tmem121b T C 6: 120,492,094 (GRCm38) E554G probably damaging Het
Tor1aip2 A G 1: 156,065,142 (GRCm38) H398R probably benign Het
Tram2 C T 1: 21,013,449 (GRCm38) V83I probably benign Het
Ube3a C T 7: 59,286,063 (GRCm38) T565I probably damaging Het
Ubr4 T C 4: 139,380,853 (GRCm38) V56A possibly damaging Het
Vmn1r128 T C 7: 21,349,719 (GRCm38) V116A possibly damaging Het
Vmn1r170 C T 7: 23,606,662 (GRCm38) T163I probably benign Het
Vmn2r75 T A 7: 86,164,082 (GRCm38) D504V possibly damaging Het
Vps36 G A 8: 22,218,420 (GRCm38) M363I probably benign Het
Wdsub1 A G 2: 59,878,317 (GRCm38) S71P probably damaging Het
Zdhhc12 A G 2: 30,091,484 (GRCm38) F189L probably benign Het
Zfp521 T C 18: 13,844,330 (GRCm38) M1009V probably benign Het
Other mutations in Nmnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Nmnat1 APN 4 149,469,678 (GRCm38) missense possibly damaging 0.94
IGL02943:Nmnat1 APN 4 149,473,288 (GRCm38) missense probably damaging 1.00
R0164:Nmnat1 UTSW 4 149,469,150 (GRCm38) missense possibly damaging 0.78
R0164:Nmnat1 UTSW 4 149,469,150 (GRCm38) missense possibly damaging 0.78
R4363:Nmnat1 UTSW 4 149,473,445 (GRCm38) missense probably benign 0.07
R4835:Nmnat1 UTSW 4 149,473,345 (GRCm38) missense possibly damaging 0.92
R4991:Nmnat1 UTSW 4 149,469,127 (GRCm38) missense possibly damaging 0.94
R5073:Nmnat1 UTSW 4 149,469,138 (GRCm38) missense probably benign 0.01
R5850:Nmnat1 UTSW 4 149,469,667 (GRCm38) nonsense probably null
R7249:Nmnat1 UTSW 4 149,469,642 (GRCm38) missense probably null 0.06
R7471:Nmnat1 UTSW 4 149,473,301 (GRCm38) missense probably damaging 1.00
R7602:Nmnat1 UTSW 4 149,473,351 (GRCm38) missense probably benign
R8478:Nmnat1 UTSW 4 149,473,384 (GRCm38) missense possibly damaging 0.67
R8480:Nmnat1 UTSW 4 149,473,370 (GRCm38) missense possibly damaging 0.95
R9036:Nmnat1 UTSW 4 149,469,025 (GRCm38) missense probably damaging 0.99
R9742:Nmnat1 UTSW 4 149,468,881 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24