Incidental Mutation 'IGL00516:Nadsyn1'
ID |
6242 |
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 # |
IGL00516
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143366530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 173
(E173G)
|
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: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033415 Gene: ENSMUSG00000031090 AA Change: E173G
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: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114380 Gene: ENSMUSG00000031090 AA Change: E173G
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nadsyn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |