Incidental Mutation 'R5691:Nadsyn1'
| ID |
443689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadsyn1
|
| Ensembl Gene |
ENSMUSG00000031090 |
| Gene Name |
NAD synthetase 1 |
| Synonyms |
9130012B15Rik |
| MMRRC Submission |
043324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143349321-143376586 bp(-) (GRCm39) |
| Type of Mutation |
splice site (845 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 143366316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033415]
[ENSMUST00000132520]
[ENSMUST00000143366]
[ENSMUST00000156638]
[ENSMUST00000156779]
|
| AlphaFold |
Q711T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033415
AA Change: V193M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033415
Gene: ENSMUSG00000031090
AA Change: V193M
| 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: V193M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114380
Gene: ENSMUSG00000031090
AA Change: V193M
| 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 null
Transcript: ENSMUST00000156779
|
| SMART Domains |
Protein: ENSMUSP00000120220
Gene: ENSMUSG00000031090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CN_hydrolase
|
6 |
54 |
8.3e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.6882 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410022M11Rik |
A |
G |
14: 57,049,830 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,890,970 (GRCm39) |
M509K |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,170,653 (GRCm39) |
Y34C |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,904 (GRCm39) |
T182I |
probably benign |
Het |
| Cdc123 |
T |
A |
2: 5,827,986 (GRCm39) |
N87I |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,186,616 (GRCm39) |
E2431G |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,708,154 (GRCm39) |
T521A |
probably damaging |
Het |
| Defb46 |
T |
A |
8: 19,292,149 (GRCm39) |
I55K |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,546,390 (GRCm39) |
T353A |
probably benign |
Het |
| Eqtn |
C |
A |
4: 94,811,965 (GRCm39) |
|
probably null |
Het |
| Ermn |
A |
T |
2: 57,937,776 (GRCm39) |
M279K |
probably damaging |
Het |
| Fan1 |
C |
A |
7: 64,004,118 (GRCm39) |
|
probably null |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,486,878 (GRCm39) |
D3291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,239,645 (GRCm39) |
W762R |
probably damaging |
Het |
| Idi2l |
A |
T |
13: 8,992,693 (GRCm39) |
Y91* |
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Inpp4b |
T |
A |
8: 82,617,323 (GRCm39) |
|
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Jph1 |
T |
G |
1: 17,074,587 (GRCm39) |
Q477P |
probably benign |
Het |
| Kdm4c |
A |
T |
4: 74,252,965 (GRCm39) |
I511L |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,332,897 (GRCm39) |
D1540G |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,769,648 (GRCm39) |
I168F |
probably damaging |
Het |
| Mgat4e |
A |
T |
1: 134,468,729 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
C |
A |
4: 106,559,815 (GRCm39) |
G704V |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,250,774 (GRCm39) |
C303S |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
| Nrcam |
T |
C |
12: 44,611,039 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nubpl |
G |
A |
12: 52,152,059 (GRCm39) |
|
probably benign |
Het |
| Oasl2 |
C |
A |
5: 115,037,828 (GRCm39) |
T75K |
possibly damaging |
Het |
| Or8h9 |
A |
T |
2: 86,789,616 (GRCm39) |
F62Y |
probably damaging |
Het |
| P3h3 |
C |
T |
6: 124,832,116 (GRCm39) |
G257R |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,683,909 (GRCm39) |
V139A |
probably benign |
Het |
| Pgam5 |
G |
A |
5: 110,414,959 (GRCm39) |
P85S |
probably damaging |
Het |
| Phpt1 |
T |
C |
2: 25,463,707 (GRCm39) |
Y96C |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,355,600 (GRCm39) |
S867A |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,579 (GRCm39) |
W131R |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,087,759 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,563,254 (GRCm39) |
Y108N |
probably damaging |
Het |
| Riox1 |
C |
T |
12: 83,998,466 (GRCm39) |
T334I |
possibly damaging |
Het |
| Rps3a2 |
G |
T |
14: 88,360,483 (GRCm39) |
|
noncoding transcript |
Het |
| Selenot |
C |
T |
3: 58,493,447 (GRCm39) |
A108V |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,126,544 (GRCm39) |
M98K |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,904,035 (GRCm39) |
H34R |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,940,581 (GRCm39) |
Y93* |
probably null |
Het |
| Sp3 |
A |
G |
2: 72,801,803 (GRCm39) |
L70S |
probably damaging |
Het |
| Syne2 |
TCCAGGTAGGGCACACC |
TCC |
12: 76,074,630 (GRCm39) |
|
probably null |
Het |
| Tcl1b4 |
C |
A |
12: 105,168,806 (GRCm39) |
D23E |
possibly damaging |
Het |
| Tespa1 |
T |
A |
10: 130,190,638 (GRCm39) |
|
probably null |
Het |
| Tmc7 |
T |
C |
7: 118,141,116 (GRCm39) |
I672V |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,690,700 (GRCm39) |
Q14L |
probably benign |
Het |
| Vmn2r73 |
A |
G |
7: 85,507,299 (GRCm39) |
V671A |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,354,952 (GRCm39) |
S1273F |
probably damaging |
Het |
| Zfp90 |
C |
A |
8: 107,151,710 (GRCm39) |
Y474* |
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 |
|
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 |
|
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'- GCCTTAAGCATGTACCAGAAGTGG -3'
(R):5'- AGATCTGTGAGGAGCTCTGG -3'
Sequencing Primer
(F):5'- GCTCCCTGATAAACTCCTAAC -3'
(R):5'- TGTGAGGAGCTCTGGACACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation