Incidental Mutation 'IGL02127:Cyp2c69'
ID |
280894 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02127
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 39839501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 374
(T374N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168838
AA Change: T374N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: T374N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
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 |
Cyp2d26 |
T |
C |
15: 82,675,307 (GRCm39) |
E349G |
probably benign |
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 Cyp2c69 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01873:Cyp2c69
|
APN |
19 |
39,869,693 (GRCm39) |
splice site |
probably benign |
|
IGL02945:Cyp2c69
|
APN |
19 |
39,875,091 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03067:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
IGL03069:Cyp2c69
|
APN |
19 |
39,869,537 (GRCm39) |
missense |
probably benign |
0.29 |
BB007:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
BB017:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0545:Cyp2c69
|
UTSW |
19 |
39,875,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Cyp2c69
|
UTSW |
19 |
39,864,668 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Cyp2c69
|
UTSW |
19 |
39,837,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Cyp2c69
|
UTSW |
19 |
39,839,593 (GRCm39) |
missense |
probably benign |
|
R1549:Cyp2c69
|
UTSW |
19 |
39,831,430 (GRCm39) |
missense |
probably benign |
0.11 |
R1703:Cyp2c69
|
UTSW |
19 |
39,864,810 (GRCm39) |
missense |
probably benign |
0.10 |
R1752:Cyp2c69
|
UTSW |
19 |
39,869,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Cyp2c69
|
UTSW |
19 |
39,864,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1843:Cyp2c69
|
UTSW |
19 |
39,865,972 (GRCm39) |
missense |
probably benign |
0.27 |
R1938:Cyp2c69
|
UTSW |
19 |
39,837,810 (GRCm39) |
missense |
probably damaging |
0.97 |
R2100:Cyp2c69
|
UTSW |
19 |
39,875,130 (GRCm39) |
missense |
probably benign |
0.11 |
R2366:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R2367:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R2440:Cyp2c69
|
UTSW |
19 |
39,864,738 (GRCm39) |
missense |
probably benign |
0.17 |
R2931:Cyp2c69
|
UTSW |
19 |
39,837,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Cyp2c69
|
UTSW |
19 |
39,839,667 (GRCm39) |
splice site |
probably benign |
|
R3793:Cyp2c69
|
UTSW |
19 |
39,869,600 (GRCm39) |
missense |
probably benign |
0.44 |
R3898:Cyp2c69
|
UTSW |
19 |
39,864,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4579:Cyp2c69
|
UTSW |
19 |
39,869,630 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4707:Cyp2c69
|
UTSW |
19 |
39,837,852 (GRCm39) |
missense |
probably benign |
0.39 |
R4778:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4779:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4780:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4838:Cyp2c69
|
UTSW |
19 |
39,866,038 (GRCm39) |
missense |
probably benign |
0.12 |
R4877:Cyp2c69
|
UTSW |
19 |
39,866,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R5488:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
R5489:Cyp2c69
|
UTSW |
19 |
39,839,603 (GRCm39) |
missense |
probably null |
0.94 |
R6083:Cyp2c69
|
UTSW |
19 |
39,837,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6278:Cyp2c69
|
UTSW |
19 |
39,831,507 (GRCm39) |
nonsense |
probably null |
|
R6415:Cyp2c69
|
UTSW |
19 |
39,831,365 (GRCm39) |
missense |
probably benign |
0.44 |
R6732:Cyp2c69
|
UTSW |
19 |
39,869,943 (GRCm39) |
missense |
probably benign |
|
R6858:Cyp2c69
|
UTSW |
19 |
39,866,009 (GRCm39) |
missense |
probably benign |
0.19 |
R7023:Cyp2c69
|
UTSW |
19 |
39,865,986 (GRCm39) |
missense |
probably benign |
0.43 |
R7227:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7228:Cyp2c69
|
UTSW |
19 |
39,869,610 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7260:Cyp2c69
|
UTSW |
19 |
39,831,344 (GRCm39) |
missense |
probably benign |
0.00 |
R7262:Cyp2c69
|
UTSW |
19 |
39,875,176 (GRCm39) |
start gained |
probably benign |
|
R7479:Cyp2c69
|
UTSW |
19 |
39,870,001 (GRCm39) |
missense |
probably benign |
0.00 |
R7570:Cyp2c69
|
UTSW |
19 |
39,848,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Cyp2c69
|
UTSW |
19 |
39,865,953 (GRCm39) |
nonsense |
probably null |
|
R7785:Cyp2c69
|
UTSW |
19 |
39,839,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Cyp2c69
|
UTSW |
19 |
39,864,663 (GRCm39) |
missense |
probably benign |
|
R7920:Cyp2c69
|
UTSW |
19 |
39,866,247 (GRCm39) |
splice site |
probably null |
|
R7930:Cyp2c69
|
UTSW |
19 |
39,831,434 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8203:Cyp2c69
|
UTSW |
19 |
39,869,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8895:Cyp2c69
|
UTSW |
19 |
39,869,910 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9530:Cyp2c69
|
UTSW |
19 |
39,848,311 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9645:Cyp2c69
|
UTSW |
19 |
39,869,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:Cyp2c69
|
UTSW |
19 |
39,839,504 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9753:Cyp2c69
|
UTSW |
19 |
39,865,991 (GRCm39) |
missense |
probably benign |
0.44 |
|
Posted On |
2015-04-16 |