Incidental Mutation 'R7249:Nmnat1'
ID 563745
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 045312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 149552029-149569659 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149554099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 147 (T147I)
Ref Sequence ENSEMBL: ENSMUSP00000030845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921] [ENSMUST00000126896]
AlphaFold Q9EPA7
Predicted Effect probably null
Transcript: ENSMUST00000030845
AA Change: T147I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: T147I

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 230 2.5e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105693
AA Change: T147I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: T147I

DomainStartEndE-ValueType
Pfam:CTP_transf_like 12 230 9.5e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119921
AA Change: T147I

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: T147I

DomainStartEndE-ValueType
Pfam:CTP_transf_2 12 140 9.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126896
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Abi1 T C 2: 22,847,101 (GRCm39) E250G possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Nup214 A G 2: 31,878,245 (GRCm39) H304R possibly damaging Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Pskh1 T C 8: 106,639,886 (GRCm39) S189P possibly damaging Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Svil T C 18: 5,056,270 (GRCm39) V381A probably benign Het
Svil T C 18: 5,062,247 (GRCm39) S769P probably damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Tsc2 A G 17: 24,826,729 (GRCm39) W896R probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly damaging 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
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
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 PCR Primer
(F):5'- TATCATGGACCCAGCAAGTCTG -3'
(R):5'- GTACTCTGACATTAAGGAGTGTGC -3'

Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- CTCTGACATTAAGGAGTGTGCTTTTG -3'
Posted On 2019-06-26