Incidental Mutation 'R0036:Nadsyn1'
ID 18602
Institutional Source Beutler Lab
Gene Symbol Nadsyn1
Ensembl Gene ENSMUSG00000031090
Gene Name NAD synthetase 1
Synonyms 9130012B15Rik
MMRRC Submission 038330-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0036 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 143795584-143822849 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143811291 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 226 (I226V)
Ref Sequence ENSEMBL: ENSMUSP00000114380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033415] [ENSMUST00000132520] [ENSMUST00000143366] [ENSMUST00000156638] [ENSMUST00000156779]
AlphaFold Q711T7
Predicted Effect probably benign
Transcript: ENSMUST00000033415
AA Change: I226V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033415
Gene: ENSMUSG00000031090
AA Change: I226V

DomainStartEndE-ValueType
Pfam:CN_hydrolase 6 283 3.2e-52 PFAM
Pfam:NAD_synthase 337 649 3.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132520
AA Change: I226V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114380
Gene: ENSMUSG00000031090
AA Change: I226V

DomainStartEndE-ValueType
Pfam:CN_hydrolase 6 201 6.3e-39 PFAM
Pfam:NAD_synthase 336 561 8.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143210
Predicted Effect probably benign
Transcript: ENSMUST00000143366
SMART Domains Protein: ENSMUSP00000115857
Gene: ENSMUSG00000031090

DomainStartEndE-ValueType
SCOP:d1f89a_ 1 28 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156638
SMART Domains Protein: ENSMUSP00000114889
Gene: ENSMUSG00000031090

DomainStartEndE-ValueType
SCOP:d1f89a_ 1 28 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156779
SMART Domains Protein: ENSMUSP00000120220
Gene: ENSMUSG00000031090

DomainStartEndE-ValueType
Pfam:CN_hydrolase 6 54 8.3e-9 PFAM
Meta Mutation Damage Score 0.1118 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.3%
  • 10x: 43.3%
  • 20x: 23.5%
Validation Efficiency 91% (49/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A T 19: 23,616,568 probably benign Het
Cfap44 A G 16: 44,439,069 E1098G possibly damaging Het
Ctsq C T 13: 61,037,671 probably null Het
Dock9 C T 14: 121,622,853 V886M probably damaging Het
Eaf2 T C 16: 36,800,658 Y224C probably benign Het
Eif5b T A 1: 38,019,111 S165T probably benign Het
Eln A G 5: 134,711,060 probably null Het
Jakmip1 A G 5: 37,134,304 K514R probably null Het
Myo1e T A 9: 70,341,308 W435R probably damaging Het
Nedd4l T C 18: 65,051,123 probably benign Het
Phrf1 T C 7: 141,261,780 M1435T probably damaging Het
Ppic A T 18: 53,409,192 I148N probably damaging Het
Sdr16c6 C A 4: 4,063,335 probably benign Het
Sgo2a T C 1: 58,015,628 S324P probably benign Het
Slf1 G T 13: 77,100,951 Q373K probably benign Het
Tfg G T 16: 56,690,995 Q324K probably benign Het
Wdr64 G T 1: 175,728,930 G248* probably null Het
Other mutations in Nadsyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Nadsyn1 APN 7 143812793 missense probably damaging 1.00
IGL01359:Nadsyn1 APN 7 143821230 missense possibly damaging 0.74
IGL01412:Nadsyn1 APN 7 143808790 critical splice donor site probably null
IGL01481:Nadsyn1 APN 7 143812584 missense probably damaging 1.00
IGL01642:Nadsyn1 APN 7 143797878 missense probably damaging 1.00
IGL02110:Nadsyn1 APN 7 143813427 missense probably damaging 1.00
IGL02126:Nadsyn1 APN 7 143804016 nonsense probably null
IGL02173:Nadsyn1 APN 7 143804006 splice site probably benign
IGL02351:Nadsyn1 APN 7 143799912 missense probably damaging 1.00
IGL02358:Nadsyn1 APN 7 143799912 missense probably damaging 1.00
IGL03216:Nadsyn1 APN 7 143797845 missense probably damaging 1.00
R0029:Nadsyn1 UTSW 7 143806078 missense probably benign 0.01
R0968:Nadsyn1 UTSW 7 143806033 missense probably benign 0.30
R1487:Nadsyn1 UTSW 7 143806925 missense probably benign 0.31
R1694:Nadsyn1 UTSW 7 143808012 missense probably benign 0.00
R1874:Nadsyn1 UTSW 7 143797844 missense probably damaging 1.00
R4540:Nadsyn1 UTSW 7 143803223 missense probably damaging 1.00
R4742:Nadsyn1 UTSW 7 143798630 intron probably benign
R4755:Nadsyn1 UTSW 7 143806913 missense probably damaging 1.00
R5045:Nadsyn1 UTSW 7 143806969 missense probably damaging 1.00
R5288:Nadsyn1 UTSW 7 143803286 missense possibly damaging 0.95
R5326:Nadsyn1 UTSW 7 143808830 missense probably benign 0.42
R5666:Nadsyn1 UTSW 7 143807431 missense probably damaging 1.00
R5669:Nadsyn1 UTSW 7 143807431 missense probably damaging 1.00
R5691:Nadsyn1 UTSW 7 143812579 splice site probably null
R5861:Nadsyn1 UTSW 7 143811227 missense possibly damaging 0.80
R6213:Nadsyn1 UTSW 7 143799812 missense probably benign 0.05
R6624:Nadsyn1 UTSW 7 143805973 missense probably benign 0.02
R6652:Nadsyn1 UTSW 7 143811218 missense probably benign 0.03
R6791:Nadsyn1 UTSW 7 143819108 missense probably damaging 1.00
R7144:Nadsyn1 UTSW 7 143811215 missense probably damaging 0.99
R7559:Nadsyn1 UTSW 7 143808067 missense probably benign 0.00
R7770:Nadsyn1 UTSW 7 143806003 missense probably damaging 1.00
R7802:Nadsyn1 UTSW 7 143806026 missense probably benign
R7871:Nadsyn1 UTSW 7 143798496 nonsense probably null
R9266:Nadsyn1 UTSW 7 143815611 missense probably damaging 1.00
Posted On 2013-03-25