Incidental Mutation 'R2370:Noxred1'
ID |
247505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Noxred1
|
Ensembl Gene |
ENSMUSG00000072919 |
Gene Name |
NADP+ dependent oxidoreductase domain containing 1 |
Synonyms |
4933437F05Rik |
MMRRC Submission |
040350-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87267897-87285375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87273820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021423]
[ENSMUST00000221768]
[ENSMUST00000222480]
|
AlphaFold |
Q9D3S5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021423
AA Change: T74A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021423 Gene: ENSMUSG00000072919 AA Change: T74A
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
AA Change: T74A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222480
AA Change: T74A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCACACCCACTGTCTAG -3'
(R):5'- CCCTGAAATACTGCTGCAGAAAACTAT -3'
Sequencing Primer
(F):5'- CACTGTCTAGCATTCCCTGG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
|
Posted On |
2014-11-11 |