Incidental Mutation 'IGL01950:Noxred1'
| ID |
181311 |
| 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 # |
IGL01950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87267897-87285375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87268190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 314
(V314M)
|
| 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: V314M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: V314M
| 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 benign
Transcript: ENSMUST00000221768
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222480
AA Change: V314M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm |
G |
A |
7: 110,228,107 (GRCm39) |
R96H |
probably damaging |
Het |
| Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
| Clec1b |
T |
A |
6: 129,377,043 (GRCm39) |
W29R |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
| Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
| Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
| Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,939,625 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Ms4a3 |
G |
T |
19: 11,610,199 (GRCm39) |
A121E |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
| Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
| Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
| Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
| Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
| Zfp503 |
C |
A |
14: 22,036,488 (GRCm39) |
A143S |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
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 |
|
IGL02381:Noxred1
|
APN |
12 |
87,271,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-05-07 |
Incidental Mutation