Incidental Mutation 'IGL02119:Cyp2d11'
ID |
280494 |
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 # |
IGL02119
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 82274265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 372
(I372S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170255
AA Change: I372S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: I372S
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 |
Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
Bora |
A |
G |
14: 99,290,974 (GRCm39) |
D94G |
probably damaging |
Het |
Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
Havcr1 |
A |
G |
11: 46,666,320 (GRCm39) |
Y261C |
probably damaging |
Het |
Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
Poldip2 |
T |
A |
11: 78,408,734 (GRCm39) |
F200I |
probably damaging |
Het |
Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Whrn |
T |
G |
4: 63,353,724 (GRCm39) |
K348Q |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,730,154 (GRCm39) |
V399A |
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 |
|
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 |
IGL02876:Cyp2d11
|
APN |
15 |
82,273,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2015-04-16 |