Incidental Mutation 'R0968:Nadsyn1'
ID 83951
Institutional Source Beutler Lab
Gene Symbol Nadsyn1
Ensembl Gene ENSMUSG00000031090
Gene Name NAD synthetase 1
Synonyms 9130012B15Rik
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0968 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143349321-143376586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143359770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 401 (T401A)
Ref Sequence ENSEMBL: ENSMUSP00000033415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033415] [ENSMUST00000132520] [ENSMUST00000156638]
AlphaFold Q711T7
Predicted Effect probably benign
Transcript: ENSMUST00000033415
AA Change: T401A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033415
Gene: ENSMUSG00000031090
AA Change: T401A

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: T401A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114380
Gene: ENSMUSG00000031090
AA Change: T401A

DomainStartEndE-ValueType
Pfam:CN_hydrolase 6 201 6.3e-39 PFAM
Pfam:NAD_synthase 336 561 8.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156638
SMART Domains Protein: ENSMUSP00000114889
Gene: ENSMUSG00000031090

DomainStartEndE-ValueType
SCOP:d1f89a_ 1 28 1e-4 SMART
Meta Mutation Damage Score 0.1958 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N probably damaging Het
Other mutations in Nadsyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Nadsyn1 APN 7 143,366,530 (GRCm39) missense probably damaging 1.00
IGL01359:Nadsyn1 APN 7 143,374,967 (GRCm39) missense possibly damaging 0.74
IGL01412:Nadsyn1 APN 7 143,362,527 (GRCm39) critical splice donor site probably null
IGL01481:Nadsyn1 APN 7 143,366,321 (GRCm39) missense probably damaging 1.00
IGL01642:Nadsyn1 APN 7 143,351,615 (GRCm39) missense probably damaging 1.00
IGL02110:Nadsyn1 APN 7 143,367,164 (GRCm39) missense probably damaging 1.00
IGL02126:Nadsyn1 APN 7 143,357,753 (GRCm39) nonsense probably null
IGL02173:Nadsyn1 APN 7 143,357,743 (GRCm39) splice site probably benign
IGL02351:Nadsyn1 APN 7 143,353,649 (GRCm39) missense probably damaging 1.00
IGL02358:Nadsyn1 APN 7 143,353,649 (GRCm39) missense probably damaging 1.00
IGL03216:Nadsyn1 APN 7 143,351,582 (GRCm39) missense probably damaging 1.00
R0029:Nadsyn1 UTSW 7 143,359,815 (GRCm39) missense probably benign 0.01
R0036:Nadsyn1 UTSW 7 143,365,028 (GRCm39) missense probably benign 0.23
R1487:Nadsyn1 UTSW 7 143,360,662 (GRCm39) missense probably benign 0.31
R1694:Nadsyn1 UTSW 7 143,361,749 (GRCm39) missense probably benign 0.00
R1874:Nadsyn1 UTSW 7 143,351,581 (GRCm39) missense probably damaging 1.00
R4540:Nadsyn1 UTSW 7 143,356,960 (GRCm39) missense probably damaging 1.00
R4742:Nadsyn1 UTSW 7 143,352,367 (GRCm39) intron probably benign
R4755:Nadsyn1 UTSW 7 143,360,650 (GRCm39) missense probably damaging 1.00
R5045:Nadsyn1 UTSW 7 143,360,706 (GRCm39) missense probably damaging 1.00
R5288:Nadsyn1 UTSW 7 143,357,023 (GRCm39) missense possibly damaging 0.95
R5326:Nadsyn1 UTSW 7 143,362,567 (GRCm39) missense probably benign 0.42
R5666:Nadsyn1 UTSW 7 143,361,168 (GRCm39) missense probably damaging 1.00
R5669:Nadsyn1 UTSW 7 143,361,168 (GRCm39) missense probably damaging 1.00
R5691:Nadsyn1 UTSW 7 143,366,316 (GRCm39) splice site probably null
R5861:Nadsyn1 UTSW 7 143,364,964 (GRCm39) missense possibly damaging 0.80
R6213:Nadsyn1 UTSW 7 143,353,549 (GRCm39) missense probably benign 0.05
R6624:Nadsyn1 UTSW 7 143,359,710 (GRCm39) missense probably benign 0.02
R6652:Nadsyn1 UTSW 7 143,364,955 (GRCm39) missense probably benign 0.03
R6791:Nadsyn1 UTSW 7 143,372,845 (GRCm39) missense probably damaging 1.00
R7144:Nadsyn1 UTSW 7 143,364,952 (GRCm39) missense probably damaging 0.99
R7559:Nadsyn1 UTSW 7 143,361,804 (GRCm39) missense probably benign 0.00
R7770:Nadsyn1 UTSW 7 143,359,740 (GRCm39) missense probably damaging 1.00
R7802:Nadsyn1 UTSW 7 143,359,763 (GRCm39) missense probably benign
R7871:Nadsyn1 UTSW 7 143,352,233 (GRCm39) nonsense probably null
R9266:Nadsyn1 UTSW 7 143,369,348 (GRCm39) missense probably damaging 1.00
R9550:Nadsyn1 UTSW 7 143,353,615 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAAAGACTGATGGACCCGCTCTATG -3'
(R):5'- TGGCACTTGGAAGATGTGCCTG -3'

Sequencing Primer
(F):5'- ATCTGCACCTAGTGGCAAG -3'
(R):5'- AAGATGTGCCTGGCTGC -3'
Posted On 2013-11-08