Incidental Mutation 'IGL02808:Pyroxd2'
| ID |
360497 |
| 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: 0.083)
|
| Stock # |
IGL02808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42714297-42741214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42719781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 475
(E475G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076505]
|
| AlphaFold |
Q3U4I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076505
AA Change: E475G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: E475G
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
C |
T |
14: 21,153,901 (GRCm39) |
P35S |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,388 (GRCm39) |
D373V |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,859 (GRCm39) |
Y282C |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,386,677 (GRCm39) |
T371A |
probably benign |
Het |
| Bckdhb |
T |
C |
9: 83,870,898 (GRCm39) |
V136A |
probably benign |
Het |
| Ccdc18 |
G |
T |
5: 108,283,835 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
T |
A |
9: 109,712,667 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,426,859 (GRCm39) |
Y1394N |
probably damaging |
Het |
| Dhx15 |
A |
G |
5: 52,319,041 (GRCm39) |
V458A |
possibly damaging |
Het |
| Dram1 |
T |
C |
10: 88,172,786 (GRCm39) |
Y136C |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,815 (GRCm39) |
K30E |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,165,185 (GRCm39) |
S424L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,241,992 (GRCm39) |
T57A |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,360,492 (GRCm39) |
Y63* |
probably null |
Het |
| Marchf6 |
A |
T |
15: 31,478,552 (GRCm39) |
N594K |
probably benign |
Het |
| Muc5ac |
C |
A |
7: 141,359,512 (GRCm39) |
T1323N |
possibly damaging |
Het |
| Mycn |
T |
C |
12: 12,989,893 (GRCm39) |
S168G |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,586,739 (GRCm39) |
Q298K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,812,478 (GRCm39) |
Y3804N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,585 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,526 (GRCm39) |
I1323T |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,001,985 (GRCm39) |
K1046E |
probably damaging |
Het |
| Sema7a |
C |
T |
9: 57,867,631 (GRCm39) |
A461V |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,360 (GRCm39) |
I31N |
possibly damaging |
Het |
| Srebf1 |
C |
A |
11: 60,092,539 (GRCm39) |
|
probably null |
Het |
| Srms |
A |
T |
2: 180,849,501 (GRCm39) |
I301N |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,680,433 (GRCm39) |
Y324H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,601,602 (GRCm39) |
T18654I |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,917 (GRCm39) |
T306S |
probably damaging |
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 |
|
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 |
2015-12-18 |
Incidental Mutation