Incidental Mutation 'IGL01293:Cyp2d10'
| ID |
72970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2d10
|
| Ensembl Gene |
ENSMUSG00000094806 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 10 |
| Synonyms |
P450-2D, Cyp2d |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL01293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82287047-82291396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82287210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 471
(V471E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072776]
[ENSMUST00000229628]
[ENSMUST00000229911]
[ENSMUST00000230198]
[ENSMUST00000230248]
[ENSMUST00000230843]
|
| AlphaFold |
P24456 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072776
AA Change: V471E
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: V471E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
6e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229911
AA Change: V302E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230198
AA Change: C424S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230248
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,226 (GRCm39) |
V25A |
probably benign |
Het |
| Aadacl4fm5 |
G |
T |
4: 144,504,159 (GRCm39) |
H331N |
probably benign |
Het |
| Aagab |
T |
C |
9: 63,543,751 (GRCm39) |
V235A |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,890,836 (GRCm39) |
V905A |
probably benign |
Het |
| Atrx |
A |
G |
X: 104,919,801 (GRCm39) |
S641P |
probably benign |
Het |
| Bnc1 |
T |
C |
7: 81,624,237 (GRCm39) |
E330G |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,244,067 (GRCm39) |
S4T |
possibly damaging |
Het |
| Clvs1 |
T |
A |
4: 9,281,559 (GRCm39) |
M1K |
probably null |
Het |
| Cul2 |
A |
G |
18: 3,419,426 (GRCm39) |
K196E |
probably damaging |
Het |
| Efhc2 |
T |
A |
X: 17,073,934 (GRCm39) |
I469L |
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,153,709 (GRCm39) |
|
probably benign |
Het |
| Gm1968 |
A |
G |
16: 29,777,632 (GRCm39) |
|
noncoding transcript |
Het |
| Hpdl |
T |
A |
4: 116,678,141 (GRCm39) |
T107S |
possibly damaging |
Het |
| Il1rl1 |
G |
A |
1: 40,485,376 (GRCm39) |
G276D |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,149 (GRCm39) |
D330G |
probably damaging |
Het |
| Kdm4b |
A |
G |
17: 56,660,019 (GRCm39) |
D62G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,107,632 (GRCm39) |
T793A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,610,340 (GRCm39) |
F691L |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,365,104 (GRCm39) |
G1654E |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,224,086 (GRCm39) |
Y100F |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,839,196 (GRCm39) |
N532S |
probably benign |
Het |
| Nfkb1 |
T |
C |
3: 135,296,600 (GRCm39) |
D782G |
probably damaging |
Het |
| Nthl1 |
G |
T |
17: 24,857,683 (GRCm39) |
C294F |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,627,719 (GRCm39) |
H45R |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,104,715 (GRCm39) |
E156G |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,886,308 (GRCm39) |
I2T |
probably benign |
Het |
| Or7g29 |
C |
A |
9: 19,286,632 (GRCm39) |
A182S |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,682 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
T |
C |
2: 121,954,291 (GRCm39) |
T427A |
probably benign |
Het |
| Pdzd8 |
T |
A |
19: 59,288,218 (GRCm39) |
R1061W |
probably damaging |
Het |
| Plk3 |
A |
T |
4: 116,990,194 (GRCm39) |
L137* |
probably null |
Het |
| Rps6ka6 |
T |
C |
X: 110,360,059 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,660 (GRCm39) |
V1784A |
possibly damaging |
Het |
| Smc1b |
A |
T |
15: 85,016,099 (GRCm39) |
S14T |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,664 (GRCm39) |
R114L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,364,746 (GRCm39) |
R221W |
probably damaging |
Het |
| Tram1l1 |
T |
C |
3: 124,115,788 (GRCm39) |
V316A |
probably benign |
Het |
| Virma |
G |
T |
4: 11,521,114 (GRCm39) |
K840N |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,394 (GRCm39) |
S203T |
probably damaging |
Het |
| Wdr1 |
T |
C |
5: 38,686,886 (GRCm39) |
T293A |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,345,528 (GRCm39) |
P2590S |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,365,516 (GRCm39) |
Y297C |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,625,351 (GRCm39) |
*573W |
probably null |
Het |
| Zfp575 |
G |
A |
7: 24,285,182 (GRCm39) |
P153L |
probably damaging |
Het |
|
| Other mutations in Cyp2d10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Cyp2d10
|
APN |
15 |
82,287,515 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00840:Cyp2d10
|
APN |
15 |
82,288,691 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01339:Cyp2d10
|
APN |
15 |
82,288,042 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01871:Cyp2d10
|
APN |
15 |
82,288,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Cyp2d10
|
APN |
15 |
82,288,808 (GRCm39) |
intron |
probably benign |
|
|
IGL02713:Cyp2d10
|
APN |
15 |
82,290,283 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02869:Cyp2d10
|
APN |
15 |
82,288,069 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0102:Cyp2d10
|
UTSW |
15 |
82,288,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0102:Cyp2d10
|
UTSW |
15 |
82,288,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0279:Cyp2d10
|
UTSW |
15 |
82,289,540 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0331:Cyp2d10
|
UTSW |
15 |
82,291,227 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1344:Cyp2d10
|
UTSW |
15 |
82,290,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1418:Cyp2d10
|
UTSW |
15 |
82,290,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1465:Cyp2d10
|
UTSW |
15 |
82,288,129 (GRCm39) |
splice site |
probably null |
|
|
R1465:Cyp2d10
|
UTSW |
15 |
82,288,129 (GRCm39) |
splice site |
probably null |
|
|
R1706:Cyp2d10
|
UTSW |
15 |
82,289,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1712:Cyp2d10
|
UTSW |
15 |
82,287,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Cyp2d10
|
UTSW |
15 |
82,289,495 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1983:Cyp2d10
|
UTSW |
15 |
82,290,200 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2056:Cyp2d10
|
UTSW |
15 |
82,288,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Cyp2d10
|
UTSW |
15 |
82,288,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Cyp2d10
|
UTSW |
15 |
82,287,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3708:Cyp2d10
|
UTSW |
15 |
82,287,217 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4042:Cyp2d10
|
UTSW |
15 |
82,290,269 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4531:Cyp2d10
|
UTSW |
15 |
82,289,462 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4694:Cyp2d10
|
UTSW |
15 |
82,288,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Cyp2d10
|
UTSW |
15 |
82,287,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5072:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5073:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5074:Cyp2d10
|
UTSW |
15 |
82,287,954 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5746:Cyp2d10
|
UTSW |
15 |
82,289,472 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7096:Cyp2d10
|
UTSW |
15 |
82,289,462 (GRCm39) |
missense |
probably benign |
|
|
R7212:Cyp2d10
|
UTSW |
15 |
82,288,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7324:Cyp2d10
|
UTSW |
15 |
82,287,961 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7487:Cyp2d10
|
UTSW |
15 |
82,288,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7915:Cyp2d10
|
UTSW |
15 |
82,288,628 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9071:Cyp2d10
|
UTSW |
15 |
82,288,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9460:Cyp2d10
|
UTSW |
15 |
82,289,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Cyp2d10
|
UTSW |
15 |
82,290,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-10-07 |
Incidental Mutation