Incidental Mutation 'IGL00969:Pyroxd2'
| ID |
29539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pyroxd2
|
| Ensembl Gene |
ENSMUSG00000060224 |
| Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 2 |
| Synonyms |
4833409A17Rik, 3830409H07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42714297-42741214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42719877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 443
(D443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076505]
|
| AlphaFold |
Q3U4I7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076505
AA Change: D443G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: D443G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
| Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,719,124 (GRCm39) |
V335E |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
| Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
| Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
| Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
| Hnf1b |
A |
G |
11: 83,773,526 (GRCm39) |
T242A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
| Igsf11 |
A |
T |
16: 38,829,279 (GRCm39) |
T117S |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,211,410 (GRCm39) |
D473G |
probably benign |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
| Zc3h14 |
T |
A |
12: 98,725,102 (GRCm39) |
S255T |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,300,351 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pyroxd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R0843:Pyroxd2
|
UTSW |
19 |
42,735,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation