Incidental Mutation 'IGL03169:Cyp2d12'
| ID |
411747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d12
|
| Ensembl Gene |
ENSMUSG00000096852 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 12 |
| Synonyms |
9030605E09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
IGL03169
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82443492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 485
(S485P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068861
AA Change: S485P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: S485P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.6e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229904
AA Change: S434P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,658,624 (GRCm39) |
I548F |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,652,019 (GRCm39) |
Q2995L |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,332,616 (GRCm39) |
I485T |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,454,957 (GRCm39) |
I197N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,642,928 (GRCm39) |
L222Q |
probably damaging |
Het |
| Ctla4 |
T |
C |
1: 60,953,764 (GRCm39) |
|
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,166 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
A |
2: 156,552,938 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
G |
A |
7: 138,679,826 (GRCm39) |
|
probably null |
Het |
| Erbin |
T |
C |
13: 103,977,740 (GRCm39) |
M606V |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,011,547 (GRCm39) |
S2216A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,429,713 (GRCm39) |
N2779S |
probably benign |
Het |
| Fut1 |
T |
C |
7: 45,268,457 (GRCm39) |
V82A |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,359,205 (GRCm39) |
A2V |
probably damaging |
Het |
| Hdac1 |
C |
T |
4: 129,412,624 (GRCm39) |
E327K |
probably null |
Het |
| Hdlbp |
A |
G |
1: 93,344,309 (GRCm39) |
V819A |
possibly damaging |
Het |
| Ift122 |
T |
C |
6: 115,882,922 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,867,785 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
C |
5: 123,913,884 (GRCm39) |
V613A |
possibly damaging |
Het |
| Lamb1 |
T |
C |
12: 31,373,645 (GRCm39) |
V1458A |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,312 (GRCm39) |
K265R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,353,538 (GRCm39) |
D574G |
probably damaging |
Het |
| Mterf2 |
C |
T |
10: 84,956,324 (GRCm39) |
R100H |
probably benign |
Het |
| Nr1d2 |
C |
T |
14: 18,216,703 (GRCm38) |
R155Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,964,122 (GRCm39) |
T3304A |
probably damaging |
Het |
| Or2j3 |
G |
T |
17: 38,615,992 (GRCm39) |
S120Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,831 (GRCm39) |
I133T |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,934,463 (GRCm39) |
T391M |
probably benign |
Het |
| Parp6 |
C |
A |
9: 59,557,300 (GRCm39) |
Y131* |
probably null |
Het |
| Plxdc1 |
T |
C |
11: 97,823,146 (GRCm39) |
E358G |
possibly damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,041,357 (GRCm39) |
S167R |
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,596,263 (GRCm39) |
D225G |
probably benign |
Het |
| Rgs7 |
T |
C |
1: 175,098,401 (GRCm39) |
I53V |
possibly damaging |
Het |
| Rpa1 |
T |
C |
11: 75,192,183 (GRCm39) |
D607G |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,560 (GRCm39) |
H213Q |
probably damaging |
Het |
| Syncrip |
A |
G |
9: 88,338,496 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
T |
G |
18: 14,954,592 (GRCm39) |
V556G |
probably damaging |
Het |
| Tgif1 |
A |
C |
17: 71,151,836 (GRCm39) |
S258R |
possibly damaging |
Het |
| Tmem106a |
T |
C |
11: 101,481,284 (GRCm39) |
|
probably benign |
Het |
| Vmn1r113 |
A |
T |
7: 20,522,012 (GRCm39) |
H268L |
probably benign |
Het |
| Vmn1r40 |
A |
T |
6: 89,692,005 (GRCm39) |
Q274L |
probably damaging |
Het |
| Wdr70 |
A |
C |
15: 7,913,821 (GRCm39) |
I609M |
possibly damaging |
Het |
| Wdr91 |
G |
A |
6: 34,882,426 (GRCm39) |
S241L |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,553,022 (GRCm39) |
Y713C |
probably damaging |
Het |
|
| Other mutations in Cyp2d12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Cyp2d12
|
APN |
15 |
82,439,545 (GRCm39) |
splice site |
probably benign |
|
|
IGL02318:Cyp2d12
|
APN |
15 |
82,439,444 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02353:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02360:Cyp2d12
|
APN |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02491:Cyp2d12
|
APN |
15 |
82,442,682 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02651:Cyp2d12
|
APN |
15 |
82,440,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02664:Cyp2d12
|
APN |
15 |
82,443,535 (GRCm39) |
missense |
probably benign |
|
|
IGL03354:Cyp2d12
|
APN |
15 |
82,443,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Cyp2d12
|
UTSW |
15 |
82,442,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Cyp2d12
|
UTSW |
15 |
82,443,164 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0578:Cyp2d12
|
UTSW |
15 |
82,440,584 (GRCm39) |
splice site |
probably benign |
|
|
R1297:Cyp2d12
|
UTSW |
15 |
82,441,887 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1517:Cyp2d12
|
UTSW |
15 |
82,442,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Cyp2d12
|
UTSW |
15 |
82,442,257 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2208:Cyp2d12
|
UTSW |
15 |
82,441,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Cyp2d12
|
UTSW |
15 |
82,439,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Cyp2d12
|
UTSW |
15 |
82,442,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2504:Cyp2d12
|
UTSW |
15 |
82,443,237 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4009:Cyp2d12
|
UTSW |
15 |
82,440,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Cyp2d12
|
UTSW |
15 |
82,442,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5237:Cyp2d12
|
UTSW |
15 |
82,442,207 (GRCm39) |
splice site |
probably null |
|
|
R5327:Cyp2d12
|
UTSW |
15 |
82,439,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5549:Cyp2d12
|
UTSW |
15 |
82,440,498 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6128:Cyp2d12
|
UTSW |
15 |
82,443,166 (GRCm39) |
missense |
probably benign |
|
|
R6275:Cyp2d12
|
UTSW |
15 |
82,440,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Cyp2d12
|
UTSW |
15 |
82,441,085 (GRCm39) |
missense |
probably benign |
|
|
R6808:Cyp2d12
|
UTSW |
15 |
82,440,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6947:Cyp2d12
|
UTSW |
15 |
82,443,248 (GRCm39) |
missense |
probably benign |
|
|
R7137:Cyp2d12
|
UTSW |
15 |
82,442,022 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7224:Cyp2d12
|
UTSW |
15 |
82,441,849 (GRCm39) |
splice site |
probably null |
|
|
R7513:Cyp2d12
|
UTSW |
15 |
82,442,621 (GRCm39) |
missense |
probably benign |
|
|
R7698:Cyp2d12
|
UTSW |
15 |
82,443,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7753:Cyp2d12
|
UTSW |
15 |
82,441,164 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8465:Cyp2d12
|
UTSW |
15 |
82,439,378 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8965:Cyp2d12
|
UTSW |
15 |
82,443,186 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9031:Cyp2d12
|
UTSW |
15 |
82,443,423 (GRCm39) |
missense |
probably null |
0.02 |
|
R9286:Cyp2d12
|
UTSW |
15 |
82,443,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Cyp2d12
|
UTSW |
15 |
82,440,435 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Cyp2d12
|
UTSW |
15 |
82,442,029 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation