Incidental Mutation 'IGL01481:Nadsyn1'
ID |
88613 |
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 # |
IGL01481
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143366321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033415]
[ENSMUST00000132520]
[ENSMUST00000143366]
[ENSMUST00000156638]
[ENSMUST00000156779]
|
AlphaFold |
Q711T7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033415
AA Change: D191G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033415 Gene: ENSMUSG00000031090 AA Change: D191G
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 damaging
Transcript: ENSMUST00000132520
AA Change: D191G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114380 Gene: ENSMUSG00000031090 AA Change: D191G
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: ENSMUST00000142749
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156779
|
SMART Domains |
Protein: ENSMUSP00000120220 Gene: ENSMUSG00000031090
Domain | Start | End | E-Value | Type |
Pfam:CN_hydrolase
|
6 |
54 |
8.3e-9 |
PFAM |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,910,079 (GRCm39) |
S523C |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,867,450 (GRCm39) |
D798E |
possibly damaging |
Het |
Arhgef7 |
G |
T |
8: 11,865,256 (GRCm39) |
V410L |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
Cldn17 |
A |
G |
16: 88,303,471 (GRCm39) |
V86A |
probably benign |
Het |
Clec4a2 |
A |
G |
6: 123,119,459 (GRCm39) |
N237S |
probably benign |
Het |
Cmtr1 |
T |
G |
17: 29,917,631 (GRCm39) |
I654S |
probably benign |
Het |
Cryzl2 |
G |
A |
1: 157,298,309 (GRCm39) |
|
probably null |
Het |
Ctif |
A |
G |
18: 75,744,855 (GRCm39) |
|
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,945,572 (GRCm39) |
I307N |
probably damaging |
Het |
Drosha |
A |
T |
15: 12,842,525 (GRCm39) |
T399S |
probably benign |
Het |
Eef2k |
A |
T |
7: 120,494,441 (GRCm39) |
Y35F |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,089,410 (GRCm39) |
S193P |
probably benign |
Het |
Fpr2 |
T |
C |
17: 18,113,025 (GRCm39) |
I7T |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,805,100 (GRCm39) |
N1247K |
probably damaging |
Het |
Gipr |
T |
C |
7: 18,893,431 (GRCm39) |
|
probably benign |
Het |
Heatr5a |
C |
T |
12: 52,002,208 (GRCm39) |
G243S |
probably damaging |
Het |
Hivep2 |
G |
A |
10: 14,024,981 (GRCm39) |
R2265Q |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,882,174 (GRCm39) |
S1073P |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,724,009 (GRCm39) |
S514P |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,694,492 (GRCm39) |
|
probably null |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Itih5 |
A |
C |
2: 10,195,100 (GRCm39) |
Q164P |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,750,215 (GRCm39) |
E1045D |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,168,951 (GRCm39) |
V1374A |
possibly damaging |
Het |
Mrps34 |
T |
C |
17: 25,116,310 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
T |
G |
16: 3,781,769 (GRCm39) |
N563H |
probably damaging |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Or10g6 |
T |
C |
9: 39,934,574 (GRCm39) |
M295T |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,870 (GRCm39) |
L195P |
probably damaging |
Het |
Or52u1 |
C |
A |
7: 104,237,067 (GRCm39) |
P36T |
probably damaging |
Het |
Pdgfd |
C |
A |
9: 6,337,271 (GRCm39) |
T195K |
probably null |
Het |
Ptprz1 |
C |
A |
6: 22,999,979 (GRCm39) |
Q690K |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,430,903 (GRCm39) |
M23K |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,438,260 (GRCm39) |
R1869C |
probably damaging |
Het |
Scp2 |
T |
C |
4: 107,931,639 (GRCm39) |
|
probably null |
Het |
Sec61a1 |
A |
G |
6: 88,483,829 (GRCm39) |
V354A |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,769,431 (GRCm39) |
I246V |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,947,450 (GRCm39) |
D250Y |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,460,273 (GRCm39) |
N1435D |
probably benign |
Het |
Sspo |
A |
G |
6: 48,425,449 (GRCm39) |
I23M |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,858 (GRCm39) |
T274S |
probably damaging |
Het |
Tbc1d22b |
T |
C |
17: 29,787,572 (GRCm39) |
L107P |
possibly damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tmem45a2 |
T |
A |
16: 56,867,375 (GRCm39) |
I109F |
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tox |
T |
A |
4: 6,842,396 (GRCm39) |
T45S |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,872,250 (GRCm39) |
D395N |
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 |
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 |
|
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 |
2013-11-18 |