Incidental Mutation 'R0992:Noxred1'
| ID |
97793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noxred1
|
| Ensembl Gene |
ENSMUSG00000072919 |
| Gene Name |
NADP+ dependent oxidoreductase domain containing 1 |
| Synonyms |
4933437F05Rik |
| MMRRC Submission |
039112-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R0992 (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 87271000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 207
(N207S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021423]
[ENSMUST00000221768]
[ENSMUST00000222480]
|
| AlphaFold |
Q9D3S5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021423
AA Change: N207S
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: N207S
| 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 benign
Transcript: ENSMUST00000222480
AA Change: N207S
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,102,510 (GRCm39) |
T905A |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,086 (GRCm39) |
R100G |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,553 (GRCm39) |
R1400* |
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,327,765 (GRCm39) |
S948P |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,300,491 (GRCm39) |
V1029M |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Disc1 |
T |
C |
8: 125,814,781 (GRCm39) |
I215T |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,617 (GRCm39) |
N3773S |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,217,329 (GRCm39) |
Y96C |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,230 (GRCm39) |
R112G |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,795,238 (GRCm39) |
S13P |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,166,929 (GRCm39) |
Q400L |
probably benign |
Het |
| Sla2 |
T |
C |
2: 156,716,392 (GRCm39) |
E243G |
probably damaging |
Het |
| Srpk2 |
A |
G |
5: 23,750,541 (GRCm39) |
I54T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Trim15 |
C |
T |
17: 37,175,903 (GRCm39) |
V215M |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,905,969 (GRCm39) |
I144T |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACTCCATTCTGCCCAACAAAGG -3'
(R):5'- TGCATCTAGCCAAGAGCTAGGCAC -3'
Sequencing Primer
(F):5'- catacacacacacacacacac -3'
(R):5'- ATCTAATCAGTGCCCTGAGCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation