Incidental Mutation 'IGL02876:Cyp2d11'
ID |
406230 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2d11
|
Ensembl Gene |
ENSMUSG00000068085 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 11 |
Synonyms |
P450-2D, Cyp2d |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL02876
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 82273697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 427
(Q427L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170255
AA Change: Q427L
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: Q427L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
7.7e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183858
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
A |
G |
4: 144,282,343 (GRCm39) |
Y150H |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,883,576 (GRCm39) |
V564A |
probably damaging |
Het |
Adamts15 |
A |
T |
9: 30,815,818 (GRCm39) |
N679K |
probably damaging |
Het |
Angpt1 |
T |
G |
15: 42,290,373 (GRCm39) |
D497A |
possibly damaging |
Het |
Asap2 |
A |
G |
12: 21,308,164 (GRCm39) |
K849R |
probably benign |
Het |
Aspm |
T |
C |
1: 139,401,391 (GRCm39) |
V1137A |
probably damaging |
Het |
Atp12a |
A |
G |
14: 56,610,746 (GRCm39) |
I297V |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,604,071 (GRCm39) |
V454A |
probably benign |
Het |
Carmil1 |
T |
A |
13: 24,338,651 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,215,128 (GRCm39) |
K517* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,469,492 (GRCm39) |
|
probably benign |
Het |
Eml5 |
C |
T |
12: 98,825,100 (GRCm39) |
V706M |
probably damaging |
Het |
Entpd8 |
A |
C |
2: 24,975,072 (GRCm39) |
S428R |
probably benign |
Het |
Gm10283 |
T |
C |
8: 60,954,253 (GRCm39) |
|
probably benign |
Het |
Gpatch3 |
T |
A |
4: 133,307,995 (GRCm39) |
V363E |
probably damaging |
Het |
Hoxb5 |
T |
A |
11: 96,194,594 (GRCm39) |
M52K |
probably damaging |
Het |
Ift52 |
T |
C |
2: 162,878,627 (GRCm39) |
V307A |
probably benign |
Het |
Igkv1-115 |
T |
C |
6: 68,138,424 (GRCm39) |
|
noncoding transcript |
Het |
Kdm5a |
T |
C |
6: 120,367,605 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,057,687 (GRCm39) |
|
probably null |
Het |
Lrp6 |
G |
A |
6: 134,433,077 (GRCm39) |
P1418L |
probably benign |
Het |
Mill2 |
T |
C |
7: 18,590,432 (GRCm39) |
F156L |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,217,378 (GRCm39) |
R85G |
probably damaging |
Het |
Myrip |
A |
T |
9: 120,261,740 (GRCm39) |
D451V |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,539 (GRCm39) |
Y35F |
possibly damaging |
Het |
Pdzph1 |
C |
A |
17: 59,281,064 (GRCm39) |
S406I |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,184,116 (GRCm39) |
|
probably benign |
Het |
Rxfp4 |
T |
A |
3: 88,559,742 (GRCm39) |
R236S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,722,679 (GRCm39) |
M2604V |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,377,673 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
T |
8: 123,948,719 (GRCm39) |
H88L |
probably damaging |
Het |
Spcs3 |
A |
T |
8: 54,979,486 (GRCm39) |
N98K |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,414 (GRCm39) |
S413P |
probably damaging |
Het |
Stap2 |
T |
C |
17: 56,306,961 (GRCm39) |
R239G |
probably benign |
Het |
Surf6 |
A |
G |
2: 26,782,638 (GRCm39) |
Y230H |
probably damaging |
Het |
Tasp1 |
C |
T |
2: 139,676,283 (GRCm39) |
V382M |
probably benign |
Het |
Tnc |
G |
T |
4: 63,933,338 (GRCm39) |
A642E |
possibly damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r110 |
T |
A |
17: 20,794,558 (GRCm39) |
T704S |
probably damaging |
Het |
Vtcn1 |
A |
T |
3: 100,791,145 (GRCm39) |
D61V |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,738,364 (GRCm39) |
M223I |
probably damaging |
Het |
Zfp592 |
T |
A |
7: 80,687,875 (GRCm39) |
S934T |
probably benign |
Het |
|
Other mutations in Cyp2d11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Cyp2d11
|
APN |
15 |
82,276,669 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00896:Cyp2d11
|
APN |
15 |
82,275,275 (GRCm39) |
splice site |
probably benign |
|
IGL02119:Cyp2d11
|
APN |
15 |
82,274,265 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02234:Cyp2d11
|
APN |
15 |
82,274,340 (GRCm39) |
missense |
probably benign |
|
IGL02347:Cyp2d11
|
APN |
15 |
82,274,681 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02352:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02359:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL03079:Cyp2d11
|
APN |
15 |
82,275,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Cyp2d11
|
APN |
15 |
82,274,221 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Cyp2d11
|
UTSW |
15 |
82,274,223 (GRCm39) |
frame shift |
probably null |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0101:Cyp2d11
|
UTSW |
15 |
82,274,395 (GRCm39) |
splice site |
probably benign |
|
R0125:Cyp2d11
|
UTSW |
15 |
82,273,422 (GRCm39) |
missense |
probably benign |
0.45 |
R0973:Cyp2d11
|
UTSW |
15 |
82,273,730 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1525:Cyp2d11
|
UTSW |
15 |
82,273,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R1708:Cyp2d11
|
UTSW |
15 |
82,274,633 (GRCm39) |
missense |
probably benign |
0.01 |
R1968:Cyp2d11
|
UTSW |
15 |
82,273,749 (GRCm39) |
missense |
probably benign |
0.01 |
R2117:Cyp2d11
|
UTSW |
15 |
82,275,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R2223:Cyp2d11
|
UTSW |
15 |
82,274,332 (GRCm39) |
missense |
probably benign |
0.23 |
R2405:Cyp2d11
|
UTSW |
15 |
82,273,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3745:Cyp2d11
|
UTSW |
15 |
82,276,056 (GRCm39) |
missense |
probably benign |
0.31 |
R4081:Cyp2d11
|
UTSW |
15 |
82,276,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4496:Cyp2d11
|
UTSW |
15 |
82,276,149 (GRCm39) |
splice site |
probably benign |
|
R4732:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4733:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4880:Cyp2d11
|
UTSW |
15 |
82,276,306 (GRCm39) |
missense |
probably benign |
0.01 |
R4898:Cyp2d11
|
UTSW |
15 |
82,275,224 (GRCm39) |
missense |
probably benign |
0.03 |
R5045:Cyp2d11
|
UTSW |
15 |
82,275,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5328:Cyp2d11
|
UTSW |
15 |
82,275,972 (GRCm39) |
missense |
probably benign |
0.04 |
R5356:Cyp2d11
|
UTSW |
15 |
82,274,712 (GRCm39) |
missense |
probably benign |
0.11 |
R5397:Cyp2d11
|
UTSW |
15 |
82,276,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5582:Cyp2d11
|
UTSW |
15 |
82,276,319 (GRCm39) |
splice site |
probably null |
|
R6862:Cyp2d11
|
UTSW |
15 |
82,274,339 (GRCm39) |
missense |
probably benign |
|
R7194:Cyp2d11
|
UTSW |
15 |
82,275,969 (GRCm39) |
missense |
probably benign |
|
R8097:Cyp2d11
|
UTSW |
15 |
82,274,581 (GRCm39) |
critical splice donor site |
probably null |
|
R8122:Cyp2d11
|
UTSW |
15 |
82,276,744 (GRCm39) |
missense |
probably benign |
0.27 |
R8152:Cyp2d11
|
UTSW |
15 |
82,276,688 (GRCm39) |
missense |
probably benign |
|
R8194:Cyp2d11
|
UTSW |
15 |
82,274,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Cyp2d11
|
UTSW |
15 |
82,273,429 (GRCm39) |
missense |
probably benign |
|
R8894:Cyp2d11
|
UTSW |
15 |
82,274,671 (GRCm39) |
missense |
probably benign |
0.22 |
R8905:Cyp2d11
|
UTSW |
15 |
82,275,102 (GRCm39) |
missense |
probably benign |
0.00 |
R9112:Cyp2d11
|
UTSW |
15 |
82,276,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Cyp2d11
|
UTSW |
15 |
82,274,312 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cyp2d11
|
UTSW |
15 |
82,276,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2016-08-02 |