Incidental Mutation 'R1326:Cyp2d9'
| ID |
157230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d9
|
| Ensembl Gene |
ENSMUSG00000068086 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 9 |
| Synonyms |
testosterone 16alpha-hydroxylase, P450-2D, Cyp2d |
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82336578-82341028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82339357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 130
(I130T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089129]
[ENSMUST00000229313]
[ENSMUST00000229473]
[ENSMUST00000229793]
[ENSMUST00000230000]
[ENSMUST00000230191]
[ENSMUST00000231136]
[ENSMUST00000230024]
|
| AlphaFold |
P11714 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089129
AA Change: I253T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: I253T
| 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 |
possibly damaging
Transcript: ENSMUST00000230000
AA Change: I130T
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230191
AA Change: I253T
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231136
AA Change: I223T
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230024
AA Change: I42T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,543 (GRCm39) |
F289S |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
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 |
|
IGL03023:Cyp2d9
|
APN |
15 |
82,339,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGATACTGAGCATCCCTAGCAC -3'
(R):5'- ATCTTGCCTCACAGCTCACAGGAC -3'
Sequencing Primer
(F):5'- caagcaagccagccaac -3'
(R):5'- GCTCACAGGACCTCAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation