Incidental Mutation 'R6732:Cyp2c69'
ID |
530131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
MMRRC Submission |
044850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6732 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39869943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168838
AA Change: V93A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: V93A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,117,190 (GRCm39) |
I486T |
probably damaging |
Het |
Abcc5 |
T |
C |
16: 20,223,434 (GRCm39) |
N158S |
probably benign |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ap1ar |
G |
A |
3: 127,609,334 (GRCm39) |
Q96* |
probably null |
Het |
Cd101 |
C |
T |
3: 100,915,515 (GRCm39) |
S684N |
probably benign |
Het |
Cdh16 |
T |
G |
8: 105,345,165 (GRCm39) |
I375L |
probably benign |
Het |
Chchd6 |
A |
G |
6: 89,551,436 (GRCm39) |
V75A |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,551,374 (GRCm39) |
N110K |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,652,740 (GRCm39) |
|
probably null |
Het |
Egln3 |
C |
T |
12: 54,227,427 (GRCm39) |
A235T |
probably benign |
Het |
Fryl |
T |
C |
5: 73,212,124 (GRCm39) |
T2335A |
probably damaging |
Het |
Fzd3 |
T |
C |
14: 65,473,252 (GRCm39) |
D172G |
probably benign |
Het |
Galnt2 |
T |
A |
8: 125,067,561 (GRCm39) |
W447R |
probably damaging |
Het |
Iqce |
A |
G |
5: 140,660,990 (GRCm39) |
L450P |
probably benign |
Het |
Ly9 |
T |
C |
1: 171,421,653 (GRCm39) |
T533A |
possibly damaging |
Het |
Map3k19 |
A |
C |
1: 127,751,969 (GRCm39) |
F257V |
probably benign |
Het |
Mroh7 |
GTT |
GTTT |
4: 106,537,910 (GRCm39) |
|
probably null |
Het |
Or5ac20 |
A |
T |
16: 59,104,314 (GRCm39) |
V182E |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,197 (GRCm39) |
I176F |
probably benign |
Het |
Pigp |
A |
C |
16: 94,166,300 (GRCm39) |
L96R |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,788,387 (GRCm39) |
D715G |
probably damaging |
Het |
Plxnd1 |
A |
C |
6: 115,946,890 (GRCm39) |
L828R |
possibly damaging |
Het |
Pramel15 |
C |
T |
4: 144,099,743 (GRCm39) |
V341I |
probably benign |
Het |
Psmd2 |
T |
A |
16: 20,481,386 (GRCm39) |
S814T |
probably benign |
Het |
Pusl1 |
A |
G |
4: 155,975,573 (GRCm39) |
S87P |
probably benign |
Het |
Rgs3 |
T |
A |
4: 62,521,180 (GRCm39) |
D34E |
probably benign |
Het |
Rhof |
A |
G |
5: 123,269,999 (GRCm39) |
F53L |
probably damaging |
Het |
Sik3 |
C |
A |
9: 46,123,851 (GRCm39) |
P1217T |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc14a2 |
A |
G |
18: 78,235,389 (GRCm39) |
Y263H |
probably damaging |
Het |
Slc26a4 |
C |
T |
12: 31,576,599 (GRCm39) |
|
probably null |
Het |
Smyd3 |
T |
G |
1: 179,223,395 (GRCm39) |
H178P |
probably benign |
Het |
Thada |
T |
C |
17: 84,761,842 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
C |
15: 75,541,337 (GRCm39) |
|
probably null |
Het |
Trim17 |
A |
T |
11: 58,861,851 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,770,395 (GRCm39) |
F2599I |
possibly damaging |
Het |
Tuba3a |
A |
T |
6: 125,258,608 (GRCm39) |
D127E |
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,018,106 (GRCm39) |
T68A |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,060,351 (GRCm39) |
V411A |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,758 (GRCm39) |
V196E |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,227,684 (GRCm39) |
Y131C |
probably damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zbtb21 |
G |
T |
16: 97,752,282 (GRCm39) |
S667Y |
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 |
|
IGL02127:Cyp2c69
|
APN |
19 |
39,839,501 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAAGCAAGCATGACCTC -3'
(R):5'- CAGACTTTAAACTGGGGTTTTCTG -3'
Sequencing Primer
(F):5'- GCAAGCATGACCTCTACTCTC -3'
(R):5'- ACTGGGGTTTTCTGACTAAAAATATC -3'
|
Posted On |
2018-08-01 |