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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
SCOP:d1f89a_
|
1 |
28 |
1e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156638
|
SMART Domains |
Protein: ENSMUSP00000114889 Gene: ENSMUSG00000031090
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |