Incidental Mutation 'IGL02664:Cyp2d12'
| ID |
302648 |
| 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 # |
IGL02664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82439244-82443614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82443535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 448
(I448K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068861]
[ENSMUST00000228974]
[ENSMUST00000229103]
[ENSMUST00000229904]
|
| AlphaFold |
Q8BVD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068861
AA Change: I499K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071064
Gene: ENSMUSG00000096852
AA Change: I499K
| 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: I448K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229988
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
T |
5: 36,006,860 (GRCm39) |
D425V |
probably damaging |
Het |
| Afdn |
G |
T |
17: 14,072,728 (GRCm39) |
|
probably benign |
Het |
| Afg2a |
A |
G |
3: 37,490,814 (GRCm39) |
D453G |
probably damaging |
Het |
| Ap2a2 |
C |
T |
7: 141,209,136 (GRCm39) |
T776I |
probably benign |
Het |
| Apcdd1 |
T |
C |
18: 63,084,891 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,188,047 (GRCm39) |
Y1513N |
probably benign |
Het |
| Btaf1 |
T |
C |
19: 36,955,828 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,068,922 (GRCm39) |
M917L |
possibly damaging |
Het |
| Cmtm6 |
T |
C |
9: 114,575,613 (GRCm39) |
V174A |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,247 (GRCm39) |
I101V |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,671,388 (GRCm39) |
Y961H |
probably damaging |
Het |
| Dnaaf1 |
T |
G |
8: 120,309,260 (GRCm39) |
I116S |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,854,451 (GRCm39) |
I5F |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,732,538 (GRCm39) |
E691G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,922 (GRCm39) |
V384A |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,420,439 (GRCm39) |
M391T |
probably damaging |
Het |
| Gab2 |
T |
G |
7: 96,953,389 (GRCm39) |
S587R |
probably damaging |
Het |
| Gm18856 |
G |
A |
13: 14,139,809 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,426 (GRCm39) |
R1559* |
probably null |
Het |
| Inpp5f |
G |
A |
7: 128,265,738 (GRCm39) |
R161H |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,203,217 (GRCm39) |
D31V |
possibly damaging |
Het |
| Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
| Lce6a |
A |
T |
3: 92,527,607 (GRCm39) |
C67S |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,233,038 (GRCm39) |
I800V |
possibly damaging |
Het |
| Mis18bp1 |
A |
C |
12: 65,200,654 (GRCm39) |
Y407* |
probably null |
Het |
| Mllt3 |
A |
C |
4: 87,949,860 (GRCm39) |
W29G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,845,401 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
C |
T |
15: 55,483,039 (GRCm39) |
T372M |
probably benign |
Het |
| Nefm |
A |
T |
14: 68,357,664 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,335,424 (GRCm39) |
|
probably null |
Het |
| Nf1 |
G |
A |
11: 79,335,425 (GRCm39) |
|
probably null |
Het |
| Ntn1 |
T |
A |
11: 68,276,295 (GRCm39) |
I218F |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,648,109 (GRCm39) |
S613R |
possibly damaging |
Het |
| Or14a259 |
C |
T |
7: 86,012,811 (GRCm39) |
V245I |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,434,134 (GRCm39) |
D1411E |
probably damaging |
Het |
| Prl2b1 |
G |
T |
13: 27,569,225 (GRCm39) |
N124K |
possibly damaging |
Het |
| Rab15 |
T |
C |
12: 76,851,225 (GRCm39) |
I30M |
possibly damaging |
Het |
| Rnf215 |
G |
T |
11: 4,090,307 (GRCm39) |
V342L |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,459,655 (GRCm39) |
S17R |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,036,234 (GRCm39) |
I908N |
probably damaging |
Het |
| Trim54 |
A |
G |
5: 31,293,391 (GRCm39) |
N205S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,697,795 (GRCm39) |
T80I |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,344 (GRCm39) |
T685I |
possibly damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,414,063 (GRCm39) |
|
probably benign |
Het |
| Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
| Zfp40 |
G |
A |
17: 23,395,960 (GRCm39) |
S209F |
probably benign |
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 |
|
IGL03169:Cyp2d12
|
APN |
15 |
82,443,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation