Incidental Mutation 'IGL02945:Cyp2c69'
ID |
364677 |
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: 0.067)
|
Stock # |
IGL02945
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39875091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 21
(R21G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168838
AA Change: R21G
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: R21G
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411G06Rik |
A |
T |
10: 51,633,095 (GRCm39) |
|
noncoding transcript |
Het |
Adgrf4 |
T |
C |
17: 42,978,257 (GRCm39) |
Q362R |
probably benign |
Het |
Akap6 |
A |
G |
12: 52,927,620 (GRCm39) |
N177D |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,597,915 (GRCm39) |
I914V |
probably damaging |
Het |
Arhgap11a |
A |
T |
2: 113,667,818 (GRCm39) |
S394R |
possibly damaging |
Het |
Cacna1h |
C |
T |
17: 25,607,033 (GRCm39) |
V962I |
probably damaging |
Het |
Calr3 |
A |
T |
8: 73,192,401 (GRCm39) |
L91Q |
probably damaging |
Het |
Ccnf |
T |
C |
17: 24,443,890 (GRCm39) |
E626G |
probably damaging |
Het |
Clec10a |
A |
T |
11: 70,061,368 (GRCm39) |
I295F |
possibly damaging |
Het |
Cop1 |
A |
T |
1: 159,134,259 (GRCm39) |
N167I |
probably benign |
Het |
Csmd1 |
G |
T |
8: 16,321,584 (GRCm39) |
Q505K |
possibly damaging |
Het |
Ctrc |
A |
C |
4: 141,573,563 (GRCm39) |
V6G |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
Egfr |
T |
A |
11: 16,702,514 (GRCm39) |
L11Q |
probably damaging |
Het |
Erich2 |
A |
G |
2: 70,364,738 (GRCm39) |
T371A |
probably damaging |
Het |
Fbxl21 |
T |
A |
13: 56,674,983 (GRCm39) |
F111L |
probably damaging |
Het |
Grik4 |
G |
T |
9: 42,509,175 (GRCm39) |
T416N |
possibly damaging |
Het |
Grin3a |
A |
G |
4: 49,792,971 (GRCm39) |
V254A |
possibly damaging |
Het |
Hat1 |
G |
A |
2: 71,251,037 (GRCm39) |
R195K |
probably benign |
Het |
Hmgb4 |
A |
C |
4: 128,154,387 (GRCm39) |
Y60* |
probably null |
Het |
Ighv12-3 |
A |
G |
12: 114,330,337 (GRCm39) |
W53R |
probably damaging |
Het |
Irs2 |
C |
A |
8: 11,057,781 (GRCm39) |
C217F |
probably damaging |
Het |
Kcnb1 |
T |
C |
2: 167,030,308 (GRCm39) |
E79G |
probably benign |
Het |
Lingo3 |
A |
G |
10: 80,670,532 (GRCm39) |
I466T |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,935,783 (GRCm39) |
S3665P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,646,205 (GRCm39) |
L1926Q |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,399,088 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,245,569 (GRCm39) |
F198L |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,557,697 (GRCm39) |
T63A |
probably damaging |
Het |
Nle1 |
A |
T |
11: 82,794,910 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,636,288 (GRCm39) |
D463V |
probably damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,703 (GRCm39) |
I77N |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,812 (GRCm39) |
I215V |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,048 (GRCm39) |
I126T |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,818,731 (GRCm39) |
I127V |
probably benign |
Het |
Rai14 |
A |
G |
15: 10,574,795 (GRCm39) |
I721T |
probably benign |
Het |
Rps6ka1 |
A |
G |
4: 133,594,510 (GRCm39) |
Y57H |
probably damaging |
Het |
Scara3 |
T |
A |
14: 66,168,660 (GRCm39) |
D319V |
probably damaging |
Het |
Selp |
G |
A |
1: 163,961,498 (GRCm39) |
G404S |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,472,836 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,080 (GRCm39) |
|
probably null |
Het |
Spen |
G |
T |
4: 141,221,624 (GRCm39) |
L325I |
unknown |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,315,970 (GRCm39) |
S326R |
possibly damaging |
Het |
Tmem255b |
T |
C |
8: 13,505,141 (GRCm39) |
S149P |
probably damaging |
Het |
Tnni3k |
A |
T |
3: 154,743,075 (GRCm39) |
S95T |
possibly damaging |
Het |
Trim66 |
G |
A |
7: 109,059,383 (GRCm39) |
Q954* |
probably null |
Het |
Ttn |
A |
T |
2: 76,582,316 (GRCm39) |
I22859N |
probably damaging |
Het |
Zfp319 |
A |
T |
8: 96,050,446 (GRCm39) |
|
probably benign |
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 |
|
IGL02127:Cyp2c69
|
APN |
19 |
39,839,501 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-12-18 |