Incidental Mutation 'IGL02381:Noxred1'
| ID |
291391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Noxred1
|
| Ensembl Gene |
ENSMUSG00000072919 |
| Gene Name |
NADP+ dependent oxidoreductase domain containing 1 |
| Synonyms |
4933437F05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL02381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87267897-87285375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87271776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 131
(D131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021423]
[ENSMUST00000221768]
[ENSMUST00000222480]
|
| AlphaFold |
Q9D3S5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021423
AA Change: D131G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: D131G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
80 |
173 |
1.1e-9 |
PFAM |
|
low complexity region
|
261 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221768
AA Change: D131G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222480
AA Change: D131G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,904,413 (GRCm39) |
I126F |
probably damaging |
Het |
| Antxrl |
T |
G |
14: 33,778,568 (GRCm39) |
|
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,740 (GRCm39) |
Y62* |
probably null |
Het |
| Atg2b |
C |
A |
12: 105,614,607 (GRCm39) |
C1108F |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,863,338 (GRCm39) |
Q651R |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,811 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
A |
G |
X: 7,482,307 (GRCm39) |
D597G |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,585,880 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,766 (GRCm39) |
D624E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,118 (GRCm39) |
E3274G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,316,280 (GRCm39) |
N3131I |
probably damaging |
Het |
| Fam3a |
C |
T |
X: 73,430,690 (GRCm39) |
G112E |
probably damaging |
Het |
| Focad |
T |
G |
4: 88,192,327 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
G |
A |
4: 104,805,863 (GRCm39) |
|
probably benign |
Het |
| Htt |
C |
T |
5: 34,987,104 (GRCm39) |
P1108S |
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,869,653 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,449,177 (GRCm39) |
*533Q |
probably null |
Het |
| Itga2 |
A |
G |
13: 114,993,258 (GRCm39) |
C786R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,499,282 (GRCm39) |
W198R |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,776,626 (GRCm39) |
T713A |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,536,156 (GRCm39) |
M520K |
probably benign |
Het |
| Mvd |
C |
A |
8: 123,163,894 (GRCm39) |
G252V |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,894,737 (GRCm39) |
V340E |
probably damaging |
Het |
| Necab1 |
A |
G |
4: 15,148,812 (GRCm39) |
|
probably null |
Het |
| P2ry4 |
C |
A |
X: 99,637,807 (GRCm39) |
K30N |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,320 (GRCm39) |
V100D |
possibly damaging |
Het |
| Piezo1 |
C |
A |
8: 123,225,283 (GRCm39) |
R571L |
probably benign |
Het |
| Pkd1l2 |
C |
T |
8: 117,762,539 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,370,034 (GRCm39) |
T32A |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,697,342 (GRCm39) |
V613A |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,422,613 (GRCm39) |
S156P |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,569,594 (GRCm39) |
D48E |
probably damaging |
Het |
| Shisal1 |
A |
G |
15: 84,290,654 (GRCm39) |
S218P |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,705,854 (GRCm39) |
V446A |
probably benign |
Het |
| Sppl3 |
C |
T |
5: 115,212,969 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,982 (GRCm39) |
E19064G |
probably damaging |
Het |
| Vps35l |
A |
G |
7: 118,374,598 (GRCm39) |
Y342C |
probably damaging |
Het |
|
| Other mutations in Noxred1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01943:Noxred1
|
APN |
12 |
87,269,955 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01950:Noxred1
|
APN |
12 |
87,268,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03109:Noxred1
|
APN |
12 |
87,280,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Noxred1
|
UTSW |
12 |
87,273,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4504001:Noxred1
|
UTSW |
12 |
87,271,653 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0242:Noxred1
|
UTSW |
12 |
87,273,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0242:Noxred1
|
UTSW |
12 |
87,273,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0514:Noxred1
|
UTSW |
12 |
87,273,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0992:Noxred1
|
UTSW |
12 |
87,271,000 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1626:Noxred1
|
UTSW |
12 |
87,268,029 (GRCm39) |
makesense |
probably null |
|
|
R2370:Noxred1
|
UTSW |
12 |
87,273,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3692:Noxred1
|
UTSW |
12 |
87,280,240 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4084:Noxred1
|
UTSW |
12 |
87,280,258 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5868:Noxred1
|
UTSW |
12 |
87,270,976 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6856:Noxred1
|
UTSW |
12 |
87,273,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6977:Noxred1
|
UTSW |
12 |
87,268,091 (GRCm39) |
missense |
probably null |
0.00 |
|
R7388:Noxred1
|
UTSW |
12 |
87,273,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7535:Noxred1
|
UTSW |
12 |
87,280,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7737:Noxred1
|
UTSW |
12 |
87,268,136 (GRCm39) |
nonsense |
probably null |
|
|
R7877:Noxred1
|
UTSW |
12 |
87,271,761 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7939:Noxred1
|
UTSW |
12 |
87,268,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Noxred1
|
UTSW |
12 |
87,273,867 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8785:Noxred1
|
UTSW |
12 |
87,270,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9470:Noxred1
|
UTSW |
12 |
87,269,829 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9718:Noxred1
|
UTSW |
12 |
87,271,692 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Noxred1
|
UTSW |
12 |
87,269,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation