Incidental Mutation 'IGL02127:Cyp2d26'
ID |
280904 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2d26
|
Ensembl Gene |
ENSMUSG00000022445 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 26 |
Synonyms |
1300006E06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL02127
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82674302-82678495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82675307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 349
(E349G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006094]
[ENSMUST00000229387]
[ENSMUST00000229512]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006094
AA Change: E349G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000006094 Gene: ENSMUSG00000022445 AA Change: E349G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
27 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
3.5e-141 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230125
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,597,305 (GRCm39) |
M661K |
probably benign |
Het |
Arpin |
G |
A |
7: 79,577,941 (GRCm39) |
R163W |
probably benign |
Het |
Atm |
C |
A |
9: 53,399,283 (GRCm39) |
D1573Y |
probably damaging |
Het |
Avil |
A |
G |
10: 126,847,695 (GRCm39) |
N540S |
probably benign |
Het |
Btnl6 |
T |
C |
17: 34,733,017 (GRCm39) |
Q282R |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,785,832 (GRCm39) |
|
probably benign |
Het |
Cd300ld4 |
T |
C |
11: 114,913,545 (GRCm39) |
N170S |
probably benign |
Het |
Cgnl1 |
T |
A |
9: 71,633,135 (GRCm39) |
N72I |
probably damaging |
Het |
Cntnap3 |
T |
C |
13: 64,946,878 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
T |
4: 63,143,379 (GRCm39) |
T356S |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2c69 |
G |
T |
19: 39,839,501 (GRCm39) |
T374N |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,026,885 (GRCm39) |
E713G |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,179,035 (GRCm39) |
T903S |
probably benign |
Het |
Enthd1 |
T |
C |
15: 80,336,943 (GRCm39) |
D497G |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,867,530 (GRCm39) |
T165I |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,598,358 (GRCm39) |
S1648L |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,971,320 (GRCm39) |
Y278C |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,382,090 (GRCm39) |
L480P |
probably damaging |
Het |
Kif5c |
G |
A |
2: 49,591,122 (GRCm39) |
|
probably null |
Het |
Kifbp |
C |
T |
10: 62,414,128 (GRCm39) |
R10H |
probably benign |
Het |
Klhl35 |
T |
C |
7: 99,120,888 (GRCm39) |
|
probably benign |
Het |
Lemd3 |
A |
T |
10: 120,761,933 (GRCm39) |
D807E |
possibly damaging |
Het |
Lrrc37a |
G |
A |
11: 103,395,365 (GRCm39) |
T20I |
probably benign |
Het |
Mab21l1 |
C |
T |
3: 55,691,016 (GRCm39) |
A201V |
probably benign |
Het |
Mab21l2 |
T |
C |
3: 86,454,124 (GRCm39) |
D292G |
possibly damaging |
Het |
Map3k21 |
T |
C |
8: 126,668,886 (GRCm39) |
L824P |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,120,263 (GRCm39) |
V1687A |
probably benign |
Het |
Myo5c |
G |
T |
9: 75,208,184 (GRCm39) |
W1639C |
probably damaging |
Het |
Nfya |
G |
T |
17: 48,700,283 (GRCm39) |
|
probably benign |
Het |
Or4a76 |
A |
G |
2: 89,461,098 (GRCm39) |
I48T |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,820,870 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
G |
A |
14: 80,006,686 (GRCm39) |
R626C |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,815,159 (GRCm39) |
|
probably benign |
Het |
Pogz |
T |
C |
3: 94,782,014 (GRCm39) |
|
probably benign |
Het |
Polg |
G |
A |
7: 79,107,915 (GRCm39) |
|
probably benign |
Het |
Scn9a |
A |
G |
2: 66,377,479 (GRCm39) |
V401A |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,325,170 (GRCm39) |
I1317K |
probably damaging |
Het |
St7 |
T |
A |
6: 17,844,968 (GRCm39) |
|
probably benign |
Het |
Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,424,100 (GRCm39) |
V400A |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,753,243 (GRCm39) |
N1856S |
probably benign |
Het |
Ube3a |
G |
A |
7: 58,925,789 (GRCm39) |
G210D |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,778,689 (GRCm39) |
V45A |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,661,958 (GRCm39) |
M410K |
possibly damaging |
Het |
Xpa |
G |
A |
4: 46,185,606 (GRCm39) |
T124M |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,446,367 (GRCm39) |
E172G |
probably damaging |
Het |
|
Other mutations in Cyp2d26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00559:Cyp2d26
|
APN |
15 |
82,675,244 (GRCm39) |
missense |
probably benign |
0.31 |
IGL00670:Cyp2d26
|
APN |
15 |
82,675,942 (GRCm39) |
missense |
probably benign |
|
IGL01646:Cyp2d26
|
APN |
15 |
82,675,619 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01915:Cyp2d26
|
APN |
15 |
82,674,450 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01940:Cyp2d26
|
APN |
15 |
82,676,758 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02452:Cyp2d26
|
APN |
15 |
82,676,827 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03216:Cyp2d26
|
APN |
15 |
82,677,462 (GRCm39) |
missense |
probably benign |
|
IGL03377:Cyp2d26
|
APN |
15 |
82,674,755 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0149:Cyp2d26
|
UTSW |
15 |
82,676,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R0848:Cyp2d26
|
UTSW |
15 |
82,674,434 (GRCm39) |
missense |
probably benign |
0.00 |
R1165:Cyp2d26
|
UTSW |
15 |
82,678,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R1217:Cyp2d26
|
UTSW |
15 |
82,677,068 (GRCm39) |
splice site |
probably benign |
|
R1780:Cyp2d26
|
UTSW |
15 |
82,678,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Cyp2d26
|
UTSW |
15 |
82,676,928 (GRCm39) |
utr 3 prime |
probably benign |
|
R2152:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably null |
|
R2397:Cyp2d26
|
UTSW |
15 |
82,678,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R4702:Cyp2d26
|
UTSW |
15 |
82,676,648 (GRCm39) |
intron |
probably benign |
|
R5157:Cyp2d26
|
UTSW |
15 |
82,675,190 (GRCm39) |
missense |
probably benign |
0.01 |
R5444:Cyp2d26
|
UTSW |
15 |
82,676,739 (GRCm39) |
missense |
probably benign |
0.18 |
R6017:Cyp2d26
|
UTSW |
15 |
82,674,774 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6223:Cyp2d26
|
UTSW |
15 |
82,675,918 (GRCm39) |
missense |
probably benign |
0.04 |
R6390:Cyp2d26
|
UTSW |
15 |
82,676,825 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6473:Cyp2d26
|
UTSW |
15 |
82,675,968 (GRCm39) |
missense |
probably benign |
0.02 |
R6858:Cyp2d26
|
UTSW |
15 |
82,678,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Cyp2d26
|
UTSW |
15 |
82,675,320 (GRCm39) |
missense |
probably benign |
0.16 |
R6936:Cyp2d26
|
UTSW |
15 |
82,676,741 (GRCm39) |
missense |
probably benign |
0.14 |
R6960:Cyp2d26
|
UTSW |
15 |
82,674,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R7053:Cyp2d26
|
UTSW |
15 |
82,676,801 (GRCm39) |
missense |
probably benign |
0.00 |
R7113:Cyp2d26
|
UTSW |
15 |
82,674,403 (GRCm39) |
missense |
probably benign |
0.02 |
R7126:Cyp2d26
|
UTSW |
15 |
82,678,209 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Cyp2d26
|
UTSW |
15 |
82,676,764 (GRCm39) |
missense |
probably benign |
|
R7771:Cyp2d26
|
UTSW |
15 |
82,675,947 (GRCm39) |
missense |
probably benign |
|
R8695:Cyp2d26
|
UTSW |
15 |
82,676,907 (GRCm39) |
critical splice donor site |
probably benign |
|
R9466:Cyp2d26
|
UTSW |
15 |
82,674,424 (GRCm39) |
missense |
probably benign |
0.01 |
R9489:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
R9605:Cyp2d26
|
UTSW |
15 |
82,674,672 (GRCm39) |
missense |
probably benign |
0.00 |
R9656:Cyp2d26
|
UTSW |
15 |
82,677,059 (GRCm39) |
missense |
probably benign |
0.03 |
X0021:Cyp2d26
|
UTSW |
15 |
82,674,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-04-16 |