Incidental Mutation 'R0968:Nadsyn1'
ID |
83951 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadsyn1
|
Ensembl Gene |
ENSMUSG00000031090 |
Gene Name |
NAD synthetase 1 |
Synonyms |
9130012B15Rik |
MMRRC Submission |
039097-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0968 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143359770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 401
(T401A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033415]
[ENSMUST00000132520]
[ENSMUST00000156638]
|
AlphaFold |
Q711T7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033415
AA Change: T401A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000033415 Gene: ENSMUSG00000031090 AA Change: T401A
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
AA Change: T401A
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114380 Gene: ENSMUSG00000031090 AA Change: T401A
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 |
|
Meta Mutation Damage Score |
0.1958 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
Validation Efficiency |
94% (34/36) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
Cylc2 |
A |
G |
4: 51,216,706 (GRCm39) |
M1V |
probably null |
Het |
Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
A |
C |
4: 96,650,303 (GRCm39) |
V181G |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
Shbg |
A |
G |
11: 69,508,014 (GRCm39) |
L117P |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
Vcpip1 |
A |
T |
1: 9,816,604 (GRCm39) |
I593N |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAAGACTGATGGACCCGCTCTATG -3'
(R):5'- TGGCACTTGGAAGATGTGCCTG -3'
Sequencing Primer
(F):5'- ATCTGCACCTAGTGGCAAG -3'
(R):5'- AAGATGTGCCTGGCTGC -3'
|
Posted On |
2013-11-08 |