Incidental Mutation 'R8480:Nmnat1'
ID 657468
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 067924-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8480 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 149467572-149485202 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149473370 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 72 (L72F)
Ref Sequence ENSEMBL: ENSMUSP00000113156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921] [ENSMUST00000126896] [ENSMUST00000210722] [ENSMUST00000229840]
AlphaFold Q9EPA7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030845
AA Change: L72F

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: L72F

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 230 2.5e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105693
AA Change: L72F

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: L72F

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 230 9.5e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119921
AA Change: L72F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: L72F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,187,458 (GRCm38) P720Q possibly damaging Het
Acvr1b G A 15: 101,210,839 (GRCm38) V499M possibly damaging Het
Adam5 G A 8: 24,804,459 (GRCm38) Q375* probably null Het
Adgrf1 G A 17: 43,295,164 (GRCm38) E60K probably benign Het
Alb T C 5: 90,462,771 (GRCm38) V70A probably damaging Het
Aph1b T A 9: 66,788,427 (GRCm38) probably benign Het
Aste1 G A 9: 105,396,990 (GRCm38) R143Q possibly damaging Het
Aste1 A T 9: 105,397,796 (GRCm38) T351S probably damaging Het
Bace2 T A 16: 97,413,470 (GRCm38) L286Q probably damaging Het
Bach1 G A 16: 87,719,275 (GRCm38) G235R probably damaging Het
Brwd1 A T 16: 96,047,430 (GRCm38) H516Q probably damaging Het
Cc2d2a C A 5: 43,685,144 (GRCm38) probably null Het
Cdh22 T A 2: 165,146,726 (GRCm38) E236D probably benign Het
Celsr1 G T 15: 86,033,085 (GRCm38) S229* probably null Het
Celsr2 T A 3: 108,398,902 (GRCm38) T2029S probably benign Het
Col11a1 A G 3: 114,181,394 (GRCm38) D1234G probably benign Het
Cpt2 A G 4: 107,907,760 (GRCm38) I269T probably damaging Het
Dcaf7 T A 11: 106,054,793 (GRCm38) S323T probably benign Het
Ddias G T 7: 92,859,400 (GRCm38) Q436K probably benign Het
Dlec1 G A 9: 119,143,267 (GRCm38) probably null Het
Dock5 T A 14: 67,836,410 (GRCm38) I294F probably benign Het
Fat2 A T 11: 55,282,968 (GRCm38) D2306E possibly damaging Het
Gm4787 T A 12: 81,377,506 (GRCm38) D626V probably damaging Het
Gm6563 A G 19: 23,675,926 (GRCm38) T27A probably benign Het
Hadhb T C 5: 30,168,570 (GRCm38) probably null Het
Hsph1 A T 5: 149,627,564 (GRCm38) W406R probably null Het
Ighv1-66 C T 12: 115,593,382 (GRCm38) G27R possibly damaging Het
Impad1 C T 4: 4,769,376 (GRCm38) M246I probably benign Het
Krt26 T C 11: 99,337,600 (GRCm38) E102G probably damaging Het
Krt34 T A 11: 100,040,145 (GRCm38) probably null Het
Krt36 T C 11: 100,102,809 (GRCm38) D401G possibly damaging Het
Loxhd1 G A 18: 77,431,131 (GRCm38) G326S probably damaging Het
Lrrc8b A G 5: 105,485,936 (GRCm38) N758S probably damaging Het
Mkl2 A T 16: 13,384,192 (GRCm38) probably null Het
Muc4 C T 16: 32,752,993 (GRCm38) T957I probably benign Het
Naip5 T C 13: 100,222,235 (GRCm38) Y831C probably damaging Het
Nfatc1 A T 18: 80,635,644 (GRCm38) V829E probably benign Het
Olfr1316 A T 2: 112,129,985 (GRCm38) D275E possibly damaging Het
Pcdh7 T A 5: 58,129,065 (GRCm38) V1161E probably damaging Het
Raver1 A G 9: 21,090,280 (GRCm38) Y86H probably benign Het
Recql4 G T 15: 76,704,505 (GRCm38) H1035Q probably benign Het
Sgsm1 A T 5: 113,263,418 (GRCm38) M814K probably benign Het
Sh3d19 T G 3: 86,084,877 (GRCm38) W71G probably benign Het
Sidt1 T C 16: 44,245,166 (GRCm38) Y759C probably damaging Het
Spg11 G T 2: 122,113,079 (GRCm38) D197E probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 (GRCm38) probably null Het
Ssc5d A T 7: 4,936,329 (GRCm38) D588V probably damaging Het
Supt20 C A 3: 54,707,116 (GRCm38) T181K probably damaging Het
Szt2 A T 4: 118,386,818 (GRCm38) S1363R probably benign Het
Tbcel G A 9: 42,463,873 (GRCm38) probably null Het
Ube2e3 T C 2: 78,918,814 (GRCm38) L169P probably damaging Het
Wrn A G 8: 33,288,768 (GRCm38) F595S probably benign Het
Zfp473 G T 7: 44,732,899 (GRCm38) P670Q probably damaging Het
Zw10 C T 9: 49,074,999 (GRCm38) A660V 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
R4583:Nmnat1 UTSW 4 149,469,151 (GRCm38) missense possibly damaging 0.55
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
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
(F):5'- TTGCTTGCTCTATGGCCTG -3'
(R):5'- GTTCCGATTGCCTATTAAAAGGGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CATCACTCTTTACCCAGGA -3'
Posted On 2021-01-18