Incidental Mutation 'R0843:Pyroxd2'
| ID |
77279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pyroxd2
|
| Ensembl Gene |
ENSMUSG00000060224 |
| Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 2 |
| Synonyms |
4833409A17Rik, 3830409H07Rik |
| MMRRC Submission |
039022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42714297-42741214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42735986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 64
(E64G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076505]
|
| AlphaFold |
Q3U4I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076505
AA Change: E64G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: E64G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
39 |
97 |
3.5e-11 |
PFAM |
|
Pfam:Amino_oxidase
|
46 |
423 |
2.7e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.9206 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb2 |
T |
C |
18: 62,312,142 (GRCm39) |
R228G |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,922 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,846,828 (GRCm39) |
Y526C |
probably damaging |
Het |
| Cenpn |
T |
C |
8: 117,660,045 (GRCm39) |
V125A |
probably benign |
Het |
| Cyfip1 |
A |
T |
7: 55,572,568 (GRCm39) |
H963L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,032,069 (GRCm39) |
Y4130H |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,631,647 (GRCm39) |
T4448M |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,709,272 (GRCm39) |
|
probably benign |
Het |
| Fgf11 |
T |
G |
11: 69,689,602 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,161,717 (GRCm39) |
I347N |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Hspa1b |
T |
A |
17: 35,176,524 (GRCm39) |
N487I |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,143 (GRCm39) |
N853K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,015,738 (GRCm39) |
D40G |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,495,663 (GRCm39) |
V107A |
possibly damaging |
Het |
| Kctd3 |
A |
T |
1: 188,729,170 (GRCm39) |
L129* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,107,137 (GRCm39) |
F1286S |
possibly damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,960 (GRCm39) |
V110I |
probably benign |
Het |
| Or52s1b |
T |
A |
7: 102,822,326 (GRCm39) |
T173S |
possibly damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,579 (GRCm39) |
F77I |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,632,182 (GRCm39) |
Y328F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,942,769 (GRCm39) |
L1810P |
probably benign |
Het |
| Polr2h |
T |
A |
16: 20,537,649 (GRCm39) |
V50E |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,364,895 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,525,259 (GRCm39) |
R741S |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,609,471 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
T |
15: 81,594,703 (GRCm39) |
D375E |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,165,053 (GRCm39) |
R107C |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,329,706 (GRCm39) |
E140G |
probably damaging |
Het |
| Slitrk6 |
G |
T |
14: 110,987,530 (GRCm39) |
H726N |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,524 (GRCm39) |
C221R |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,076,612 (GRCm39) |
V24M |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,842 (GRCm39) |
S238P |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,116,902 (GRCm39) |
|
probably null |
Het |
| Ttyh3 |
C |
A |
5: 140,612,201 (GRCm39) |
|
probably null |
Het |
| Vmn2r116 |
T |
C |
17: 23,619,934 (GRCm39) |
V556A |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,533,576 (GRCm39) |
|
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,709,328 (GRCm39) |
S514P |
probably benign |
Het |
| Zfp277 |
A |
C |
12: 40,370,599 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pyroxd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Pyroxd2
|
APN |
19 |
42,719,877 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01636:Pyroxd2
|
APN |
19 |
42,726,771 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02808:Pyroxd2
|
APN |
19 |
42,719,781 (GRCm39) |
missense |
probably benign |
|
|
IGL02831:Pyroxd2
|
APN |
19 |
42,724,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03179:Pyroxd2
|
APN |
19 |
42,736,001 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4486001:Pyroxd2
|
UTSW |
19 |
42,728,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0360:Pyroxd2
|
UTSW |
19 |
42,735,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Pyroxd2
|
UTSW |
19 |
42,735,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Pyroxd2
|
UTSW |
19 |
42,724,364 (GRCm39) |
missense |
probably benign |
|
|
R0690:Pyroxd2
|
UTSW |
19 |
42,716,081 (GRCm39) |
splice site |
probably benign |
|
|
R1649:Pyroxd2
|
UTSW |
19 |
42,726,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2032:Pyroxd2
|
UTSW |
19 |
42,716,088 (GRCm39) |
splice site |
probably benign |
|
|
R2087:Pyroxd2
|
UTSW |
19 |
42,722,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3040:Pyroxd2
|
UTSW |
19 |
42,723,957 (GRCm39) |
missense |
probably benign |
|
|
R3898:Pyroxd2
|
UTSW |
19 |
42,728,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4746:Pyroxd2
|
UTSW |
19 |
42,740,839 (GRCm39) |
nonsense |
probably null |
|
|
R5394:Pyroxd2
|
UTSW |
19 |
42,728,898 (GRCm39) |
missense |
probably benign |
|
|
R5634:Pyroxd2
|
UTSW |
19 |
42,728,924 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5977:Pyroxd2
|
UTSW |
19 |
42,723,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6745:Pyroxd2
|
UTSW |
19 |
42,735,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7128:Pyroxd2
|
UTSW |
19 |
42,719,842 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7697:Pyroxd2
|
UTSW |
19 |
42,735,805 (GRCm39) |
missense |
probably benign |
|
|
R7707:Pyroxd2
|
UTSW |
19 |
42,726,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7769:Pyroxd2
|
UTSW |
19 |
42,736,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7878:Pyroxd2
|
UTSW |
19 |
42,731,104 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8204:Pyroxd2
|
UTSW |
19 |
42,737,827 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9374:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9551:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9552:Pyroxd2
|
UTSW |
19 |
42,719,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGCTCGGGAGAACTTGAACC -3'
(R):5'- TGATGTGCCCCAGTGGAAGAACAG -3'
Sequencing Primer
(F):5'- GGAGAACTTGAACCCTGGAACC -3'
(R):5'- ACGATGCAATATGTGTCCTCCAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation