Incidental Mutation 'R4742:Nadsyn1'
| ID |
358135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadsyn1
|
| Ensembl Gene |
ENSMUSG00000031090 |
| Gene Name |
NAD synthetase 1 |
| Synonyms |
9130012B15Rik |
| MMRRC Submission |
041966-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4742 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 143352367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033415]
[ENSMUST00000132520]
[ENSMUST00000156638]
|
| AlphaFold |
Q711T7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033415
|
| SMART Domains |
Protein: ENSMUSP00000033415
Gene: ENSMUSG00000031090
| 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: ENSMUST00000132520
|
| SMART Domains |
Protein: ENSMUSP00000114380
Gene: ENSMUSG00000031090
| 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: ENSMUST00000155088
|
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
94% (51/54) |
| 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 |
|---|
| 8030423J24Rik |
G |
T |
13: 71,031,644 (GRCm39) |
R17L |
unknown |
Het |
| Acan |
T |
C |
7: 78,750,517 (GRCm39) |
F1763L |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,401,328 (GRCm39) |
L108* |
probably null |
Het |
| Anapc2 |
T |
A |
2: 25,163,555 (GRCm39) |
|
probably null |
Het |
| Apbb1ip |
A |
G |
2: 22,716,928 (GRCm39) |
K177E |
unknown |
Het |
| Azgp1 |
T |
A |
5: 137,987,888 (GRCm39) |
Y223* |
probably null |
Het |
| Cfap44 |
T |
G |
16: 44,269,615 (GRCm39) |
|
probably null |
Het |
| Chfr |
C |
T |
5: 110,291,464 (GRCm39) |
T94I |
probably benign |
Het |
| Chrna10 |
T |
G |
7: 101,762,344 (GRCm39) |
Q282P |
probably damaging |
Het |
| Col9a3 |
G |
T |
2: 180,245,180 (GRCm39) |
G130W |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,735,754 (GRCm39) |
T901A |
probably benign |
Het |
| Dock2 |
T |
G |
11: 34,244,170 (GRCm39) |
|
probably null |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Fdxacb1 |
A |
G |
9: 50,679,968 (GRCm39) |
|
probably benign |
Het |
| Fhip1b |
A |
G |
7: 105,033,518 (GRCm39) |
V566A |
probably damaging |
Het |
| Il31ra |
G |
T |
13: 112,660,501 (GRCm39) |
S615* |
probably null |
Het |
| Itgam |
C |
T |
7: 127,712,245 (GRCm39) |
S827F |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,847,299 (GRCm39) |
V512E |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nab2 |
T |
C |
10: 127,498,696 (GRCm39) |
T458A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,861,624 (GRCm38) |
D560G |
probably null |
Het |
| Or2ag13 |
A |
T |
7: 106,472,635 (GRCm39) |
N272K |
probably damaging |
Het |
| Or2ak6 |
A |
G |
11: 58,592,685 (GRCm39) |
R53G |
probably benign |
Het |
| Or8b46 |
T |
C |
9: 38,450,952 (GRCm39) |
S254P |
probably damaging |
Het |
| Pou1f1 |
C |
A |
16: 65,320,367 (GRCm39) |
P19T |
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,773,783 (GRCm39) |
D329E |
probably damaging |
Het |
| Prkn |
T |
A |
17: 11,456,591 (GRCm39) |
|
probably null |
Het |
| Ptprm |
A |
C |
17: 67,051,746 (GRCm39) |
Y962* |
probably null |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,839,144 (GRCm39) |
T154A |
possibly damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,898 (GRCm39) |
D958G |
probably benign |
Het |
| Spata31d1b |
C |
A |
13: 59,864,426 (GRCm39) |
H525N |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,227,697 (GRCm39) |
R1461G |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,814 (GRCm39) |
H205Y |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,446,691 (GRCm39) |
N809D |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,666,723 (GRCm39) |
N415I |
probably benign |
Het |
| Tns1 |
A |
G |
1: 74,163,449 (GRCm39) |
|
probably null |
Het |
| Top1 |
A |
G |
2: 160,545,490 (GRCm39) |
|
probably null |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,026,765 (GRCm39) |
D135G |
possibly damaging |
Het |
| Usp3 |
A |
G |
9: 66,427,959 (GRCm39) |
Y339H |
probably damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,963,236 (GRCm39) |
K304* |
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,387,119 (GRCm39) |
T153A |
probably benign |
Het |
| Xkr5 |
A |
T |
8: 18,998,746 (GRCm39) |
*55K |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGCTTCACCTGTGTTGG -3'
(R):5'- ACAAGCAGGTTCTCCACAGTAG -3'
Sequencing Primer
(F):5'- GGTGTATAGCTGTCTCTCCACATG -3'
(R):5'- AAGCAGGTTCTCCACAGTAGATTCTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation