Incidental Mutation 'IGL03023:Cyp2d9'
| ID |
408041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d9
|
| Ensembl Gene |
ENSMUSG00000068086 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 9 |
| Synonyms |
testosterone 16alpha-hydroxylase, P450-2D, Cyp2d |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL03023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82336578-82341028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82339719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 313
(T313A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089129]
[ENSMUST00000229313]
[ENSMUST00000229473]
[ENSMUST00000229793]
[ENSMUST00000230000]
[ENSMUST00000230024]
[ENSMUST00000230191]
[ENSMUST00000231136]
|
| AlphaFold |
P11714 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089129
AA Change: T313A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: T313A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229181
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229793
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230000
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230024
AA Change: T102A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231136
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,859,419 (GRCm39) |
D28G |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,987,415 (GRCm39) |
R1746C |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,831,260 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,488,275 (GRCm39) |
D99G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,022,660 (GRCm39) |
D55E |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,169,989 (GRCm39) |
Y1790C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,786,034 (GRCm39) |
F319V |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,563,049 (GRCm39) |
V486D |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,679,794 (GRCm39) |
|
probably null |
Het |
| Hdac7 |
A |
T |
15: 97,695,838 (GRCm39) |
Y674N |
probably damaging |
Het |
| Inpp5a |
G |
A |
7: 139,105,702 (GRCm39) |
|
probably null |
Het |
| Jup |
T |
C |
11: 100,271,518 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,880 (GRCm39) |
T385A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,292,572 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,608,692 (GRCm39) |
|
probably null |
Het |
| Or10ak11 |
A |
T |
4: 118,687,449 (GRCm39) |
F63I |
probably damaging |
Het |
| Or12d17 |
A |
G |
17: 37,777,885 (GRCm39) |
T263A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,687 (GRCm39) |
C32Y |
probably damaging |
Het |
| Psmc4 |
T |
A |
7: 27,742,285 (GRCm39) |
I264L |
possibly damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,995,803 (GRCm39) |
V61A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,035,914 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,257 (GRCm39) |
C186R |
possibly damaging |
Het |
| Vsig2 |
A |
G |
9: 37,453,708 (GRCm39) |
Y136C |
probably damaging |
Het |
|
| Other mutations in Cyp2d9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Cyp2d9
|
APN |
15 |
82,339,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00587:Cyp2d9
|
APN |
15 |
82,339,344 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00815:Cyp2d9
|
APN |
15 |
82,340,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03410:Cyp2d9
|
APN |
15 |
82,340,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0417:Cyp2d9
|
UTSW |
15 |
82,340,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Cyp2d9
|
UTSW |
15 |
82,339,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1326:Cyp2d9
|
UTSW |
15 |
82,339,357 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1501:Cyp2d9
|
UTSW |
15 |
82,338,525 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Cyp2d9
|
UTSW |
15 |
82,336,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2496:Cyp2d9
|
UTSW |
15 |
82,336,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Cyp2d9
|
UTSW |
15 |
82,338,719 (GRCm39) |
splice site |
probably null |
|
|
R3155:Cyp2d9
|
UTSW |
15 |
82,336,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4691:Cyp2d9
|
UTSW |
15 |
82,340,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Cyp2d9
|
UTSW |
15 |
82,338,602 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4770:Cyp2d9
|
UTSW |
15 |
82,336,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5319:Cyp2d9
|
UTSW |
15 |
82,338,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5486:Cyp2d9
|
UTSW |
15 |
82,336,779 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5516:Cyp2d9
|
UTSW |
15 |
82,338,528 (GRCm39) |
missense |
probably null |
1.00 |
|
R5646:Cyp2d9
|
UTSW |
15 |
82,336,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5898:Cyp2d9
|
UTSW |
15 |
82,339,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6193:Cyp2d9
|
UTSW |
15 |
82,336,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6288:Cyp2d9
|
UTSW |
15 |
82,340,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6924:Cyp2d9
|
UTSW |
15 |
82,339,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Cyp2d9
|
UTSW |
15 |
82,340,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Cyp2d9
|
UTSW |
15 |
82,338,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7731:Cyp2d9
|
UTSW |
15 |
82,339,633 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7889:Cyp2d9
|
UTSW |
15 |
82,340,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8353:Cyp2d9
|
UTSW |
15 |
82,336,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8682:Cyp2d9
|
UTSW |
15 |
82,337,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Cyp2d9
|
UTSW |
15 |
82,339,276 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9159:Cyp2d9
|
UTSW |
15 |
82,338,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Posted On |
2016-08-02 |
Incidental Mutation