Incidental Mutation 'IGL02943:Nmnat1'
ID 364597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmnat1
Ensembl Gene ENSMUSG00000028992
Gene Name nicotinamide nucleotide adenylyltransferase 1
Synonyms D4Cole1e, 2610529L11Rik, nicotinamide mononucleotide adenylyl transferase, nmnat, 5730441G13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02943
Quality Score
Status
Chromosome 4
Chromosomal Location 149552029-149569659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149557745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 99 (L99P)
Ref Sequence ENSEMBL: ENSMUSP00000113156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921] [ENSMUST00000126896] [ENSMUST00000210722] [ENSMUST00000229840]
AlphaFold Q9EPA7
Predicted Effect probably damaging
Transcript: ENSMUST00000030845
AA Change: L99P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: L99P

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 230 2.5e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105693
AA Change: L99P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: L99P

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 230 9.5e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119921
AA Change: L99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: L99P

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 140 9.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126896
Predicted Effect probably benign
Transcript: ENSMUST00000210722
Predicted Effect probably benign
Transcript: ENSMUST00000229840
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 T A 1: 87,054,091 (GRCm39) Y236* probably null Het
Ankrd13c C T 3: 157,653,564 (GRCm39) T134M probably damaging Het
Arhgef18 T C 8: 3,498,553 (GRCm39) S529P probably damaging Het
Cdkl2 T A 5: 92,185,103 (GRCm39) N96I possibly damaging Het
Cep57 A T 9: 13,730,149 (GRCm39) probably benign Het
Chchd7 T C 4: 3,942,796 (GRCm39) Y44H probably damaging Het
Ciart T C 3: 95,786,314 (GRCm39) I254V possibly damaging Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dlgap5 A G 14: 47,650,433 (GRCm39) probably null Het
Ednra T A 8: 78,446,683 (GRCm39) I132F probably damaging Het
En2 T C 5: 28,371,524 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,846,613 (GRCm39) R1102G probably damaging Het
Fsip2 C A 2: 82,822,701 (GRCm39) Q6145K probably benign Het
Galnt5 A T 2: 57,889,780 (GRCm39) D460V probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Gpr84 T C 15: 103,217,316 (GRCm39) I254V probably benign Het
Hacd3 A T 9: 64,897,718 (GRCm39) I298N probably damaging Het
Hyal6 T A 6: 24,743,438 (GRCm39) V378E probably damaging Het
Il20rb G T 9: 100,348,305 (GRCm39) H210N probably benign Het
Iqgap2 A G 13: 95,798,243 (GRCm39) probably benign Het
Itga1 C T 13: 115,185,832 (GRCm39) E57K possibly damaging Het
Jmjd1c T A 10: 67,055,433 (GRCm39) D571E probably damaging Het
Kmt2c T C 5: 25,495,821 (GRCm39) S623G probably damaging Het
L3mbtl2 T A 15: 81,570,456 (GRCm39) S645T possibly damaging Het
Lrp2 A G 2: 69,285,854 (GRCm39) V3779A possibly damaging Het
Lrpprc T C 17: 85,078,878 (GRCm39) R279G probably benign Het
Lurap1l A G 4: 80,871,872 (GRCm39) K122E probably damaging Het
Met T C 6: 17,535,928 (GRCm39) Y785H possibly damaging Het
Myh3 T C 11: 66,981,891 (GRCm39) F796L probably benign Het
Myo16 T C 8: 10,450,595 (GRCm39) probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nlrp4c T C 7: 6,068,974 (GRCm39) C292R probably damaging Het
Or1j12 A T 2: 36,343,051 (GRCm39) L151F probably benign Het
Or5p64 A G 7: 107,854,623 (GRCm39) F241L possibly damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Phf20l1 A G 15: 66,466,733 (GRCm39) Y54C probably damaging Het
Postn T C 3: 54,285,029 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prdm2 A C 4: 142,858,542 (GRCm39) S1583A probably benign Het
Proser1 T C 3: 53,386,524 (GRCm39) V802A probably damaging Het
Ptprc A T 1: 138,027,251 (GRCm39) N532K probably damaging Het
Ptprk A G 10: 28,351,172 (GRCm39) H555R possibly damaging Het
Ranbp6 T C 19: 29,789,524 (GRCm39) D276G possibly damaging Het
Rasgrf2 A G 13: 92,131,752 (GRCm39) V635A probably damaging Het
Rbm5 T C 9: 107,621,542 (GRCm39) Y620C probably damaging Het
Sall1 C T 8: 89,757,749 (GRCm39) R785H probably damaging Het
Slc22a2 G T 17: 12,828,948 (GRCm39) L351F probably damaging Het
Sorcs3 A T 19: 48,748,377 (GRCm39) Q782L probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r107 T A 6: 131,636,369 (GRCm39) M227L probably damaging Het
Tecpr2 C T 12: 110,934,183 (GRCm39) T1281I probably benign Het
Topbp1 T A 9: 103,205,639 (GRCm39) V759E probably benign Het
Trim2 T C 3: 84,085,483 (GRCm39) T504A probably benign Het
Trpc1 A G 9: 95,590,906 (GRCm39) probably benign Het
Tssk4 T A 14: 55,889,023 (GRCm39) V183E probably damaging Het
Vmn1r202 T C 13: 22,686,364 (GRCm39) T18A probably benign Het
Vmn1r225 T C 17: 20,722,567 (GRCm39) S3P possibly damaging Het
Vmn2r101 T A 17: 19,831,666 (GRCm39) V554E probably damaging Het
Vps13a T C 19: 16,641,250 (GRCm39) I2291V probably damaging Het
Vps39 A G 2: 120,169,968 (GRCm39) S195P possibly damaging Het
Zfand4 T A 6: 116,250,837 (GRCm39) probably benign Het
Other mutations in Nmnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Nmnat1 APN 4 149,554,135 (GRCm39) missense possibly damaging 0.94
R0164:Nmnat1 UTSW 4 149,553,607 (GRCm39) missense possibly damaging 0.78
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
Posted On 2015-12-18