Incidental Mutation 'IGL01359:Nadsyn1'
ID 75672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nadsyn1
Ensembl Gene ENSMUSG00000031090
Gene Name NAD synthetase 1
Synonyms 9130012B15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01359
Quality Score
Status
Chromosome 7
Chromosomal Location 143349321-143376586 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143374967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 30 (I30V)
Ref Sequence ENSEMBL: ENSMUSP00000033415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033415] [ENSMUST00000073878] [ENSMUST00000128454] [ENSMUST00000132520] [ENSMUST00000156779] [ENSMUST00000143366] [ENSMUST00000156638]
AlphaFold Q711T7
Predicted Effect possibly damaging
Transcript: ENSMUST00000033415
AA Change: I30V

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033415
Gene: ENSMUSG00000031090
AA Change: I30V

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: ENSMUST00000073878
SMART Domains Protein: ENSMUSP00000073541
Gene: ENSMUSG00000058454

DomainStartEndE-ValueType
Pfam:ERG4_ERG24 36 471 1.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128454
Predicted Effect possibly damaging
Transcript: ENSMUST00000132520
AA Change: I30V

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114380
Gene: ENSMUSG00000031090
AA Change: I30V

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: ENSMUST00000139748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142749
Predicted Effect probably benign
Transcript: ENSMUST00000156779
AA Change: I30V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000120220
Gene: ENSMUSG00000031090
AA Change: I30V

DomainStartEndE-ValueType
Pfam:CN_hydrolase 6 54 8.3e-9 PFAM
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
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
B3gat2 T C 1: 23,802,301 (GRCm39) F196L probably damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,009,939 (GRCm39) I127N probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Grk3 C A 5: 113,085,626 (GRCm39) S370I probably damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or4f57 A T 2: 111,791,406 (GRCm39) M4K probably benign Het
Or52e8 T C 7: 104,625,193 (GRCm39) probably null Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in Nadsyn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Nadsyn1 APN 7 143,366,530 (GRCm39) missense probably damaging 1.00
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
R0968:Nadsyn1 UTSW 7 143,359,770 (GRCm39) missense probably benign 0.30
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
Posted On 2013-10-07