Incidental Mutation 'R5669:Nadsyn1'
ID |
442515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadsyn1
|
Ensembl Gene |
ENSMUSG00000031090 |
Gene Name |
NAD synthetase 1 |
Synonyms |
9130012B15Rik |
MMRRC Submission |
043312-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5669 (G1)
|
Quality Score |
213 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 143361168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 335
(G335S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033415]
[ENSMUST00000132520]
[ENSMUST00000156638]
|
AlphaFold |
Q711T7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033415
AA Change: G335S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000033415 Gene: ENSMUSG00000031090 AA Change: G335S
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: G335S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114380 Gene: ENSMUSG00000031090 AA Change: G335S
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 |
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,100,540 (GRCm39) |
L2734* |
probably null |
Het |
Aldh1a1 |
T |
C |
19: 20,588,284 (GRCm39) |
I25T |
probably damaging |
Het |
Astl |
G |
T |
2: 127,189,199 (GRCm39) |
R175L |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,550 (GRCm39) |
C661S |
probably damaging |
Het |
Cd160 |
C |
T |
3: 96,716,214 (GRCm39) |
|
probably benign |
Het |
Cdc42bpb |
C |
T |
12: 111,268,447 (GRCm39) |
|
probably null |
Het |
Cdip1 |
T |
A |
16: 4,586,679 (GRCm39) |
I149F |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,964,127 (GRCm39) |
Y607C |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,803,197 (GRCm39) |
I1256T |
unknown |
Het |
Copb1 |
A |
G |
7: 113,836,820 (GRCm39) |
V336A |
probably damaging |
Het |
Ddx42 |
A |
T |
11: 106,132,645 (GRCm39) |
D556V |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,425,964 (GRCm39) |
V279A |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,688,411 (GRCm39) |
N284S |
probably benign |
Het |
Fbxw21 |
A |
T |
9: 108,974,578 (GRCm39) |
I314N |
probably benign |
Het |
Foxa3 |
T |
C |
7: 18,748,176 (GRCm39) |
T317A |
probably benign |
Het |
Gpr37 |
A |
T |
6: 25,669,351 (GRCm39) |
C498S |
probably benign |
Het |
Hapln3 |
G |
T |
7: 78,767,244 (GRCm39) |
|
probably null |
Het |
Igkv4-54 |
A |
G |
6: 69,608,832 (GRCm39) |
V29A |
possibly damaging |
Het |
Itgb8 |
T |
A |
12: 119,154,363 (GRCm39) |
I225F |
probably damaging |
Het |
Kcnk3 |
A |
G |
5: 30,779,693 (GRCm39) |
T248A |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 44,977,648 (GRCm39) |
Q130R |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,001,050 (GRCm39) |
H2058R |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,370,018 (GRCm39) |
E1581V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,733,907 (GRCm39) |
N252D |
probably damaging |
Het |
Or10ag53 |
T |
C |
2: 87,082,785 (GRCm39) |
V168A |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,695,053 (GRCm39) |
F208S |
probably benign |
Het |
Pak5 |
G |
A |
2: 135,958,204 (GRCm39) |
P295S |
probably damaging |
Het |
Pcsk1 |
T |
A |
13: 75,278,221 (GRCm39) |
S595T |
probably benign |
Het |
Pepd |
T |
C |
7: 34,740,099 (GRCm39) |
V324A |
probably benign |
Het |
Pml |
C |
T |
9: 58,154,346 (GRCm39) |
D176N |
probably benign |
Het |
Popdc3 |
T |
A |
10: 45,192,529 (GRCm39) |
I163N |
probably damaging |
Het |
Ppp1r13l |
A |
C |
7: 19,106,947 (GRCm39) |
T481P |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,413 (GRCm39) |
I44V |
probably benign |
Het |
Prlh |
A |
G |
1: 90,880,842 (GRCm39) |
T5A |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,170,285 (GRCm39) |
F638S |
possibly damaging |
Het |
Prpf8 |
T |
A |
11: 75,395,564 (GRCm39) |
L1897H |
probably damaging |
Het |
Ret |
T |
C |
6: 118,161,204 (GRCm39) |
T91A |
probably benign |
Het |
Retsat |
A |
G |
6: 72,582,993 (GRCm39) |
S176G |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,349,611 (GRCm39) |
L3823P |
possibly damaging |
Het |
Rnf31 |
C |
T |
14: 55,834,161 (GRCm39) |
A653V |
probably damaging |
Het |
Rps6kl1 |
T |
C |
12: 85,194,641 (GRCm39) |
D90G |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,377,451 (GRCm39) |
Y194H |
probably damaging |
Het |
Scube2 |
C |
T |
7: 109,424,646 (GRCm39) |
A556T |
probably benign |
Het |
Serpinb1a |
A |
G |
13: 33,029,299 (GRCm39) |
L243P |
probably damaging |
Het |
Slc39a4 |
A |
C |
15: 76,498,363 (GRCm39) |
L358R |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,919,055 (GRCm39) |
D893G |
probably damaging |
Het |
Srgap1 |
C |
A |
10: 121,640,755 (GRCm39) |
V681L |
probably benign |
Het |
Tmprss6 |
A |
T |
15: 78,339,156 (GRCm39) |
M262K |
possibly damaging |
Het |
Ttf2 |
T |
A |
3: 100,858,433 (GRCm39) |
K719* |
probably null |
Het |
Vmn1r62 |
T |
A |
7: 5,678,736 (GRCm39) |
L139* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,098 (GRCm39) |
I140V |
probably benign |
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 |
|
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 |
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'- AGCAGGTTTCACCCATCTGG -3'
(R):5'- CTTAACCTCTGAGGCACTGC -3'
Sequencing Primer
(F):5'- ACCCATCTGGCCTCTGG -3'
(R):5'- GGTTTCCACCAGACTTGTTTCAGAG -3'
|
Posted On |
2016-11-09 |