Incidental Mutation 'R3709:Cyp2c69'
ID |
259518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
MMRRC Submission |
040702-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3709 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 39839667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168838
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
G |
11: 48,910,480 (GRCm39) |
D651A |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,788,738 (GRCm39) |
N1039S |
probably benign |
Het |
Abcc2 |
G |
T |
19: 43,786,885 (GRCm39) |
V169F |
possibly damaging |
Het |
Adcy8 |
T |
C |
15: 64,597,384 (GRCm39) |
|
probably benign |
Het |
Aida |
C |
A |
1: 183,085,610 (GRCm39) |
|
probably null |
Het |
Armc8 |
A |
G |
9: 99,402,550 (GRCm39) |
I333T |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Ccdc92b |
C |
A |
11: 74,528,933 (GRCm39) |
R146S |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,892,628 (GRCm39) |
D264G |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,381,009 (GRCm39) |
S2804P |
possibly damaging |
Het |
Cic |
A |
G |
7: 24,986,406 (GRCm39) |
D1276G |
probably damaging |
Het |
Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
Ctdp1 |
G |
A |
18: 80,493,428 (GRCm39) |
Q356* |
probably null |
Het |
Dhrs3 |
T |
C |
4: 144,620,281 (GRCm39) |
|
probably null |
Het |
Fhod3 |
T |
A |
18: 25,223,815 (GRCm39) |
W1054R |
probably damaging |
Het |
Gfral |
G |
A |
9: 76,100,725 (GRCm39) |
R238* |
probably null |
Het |
Gm10322 |
C |
A |
10: 59,451,941 (GRCm39) |
D19E |
possibly damaging |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
C |
9: 54,493,810 (GRCm39) |
S4P |
possibly damaging |
Het |
Il15ra |
G |
T |
2: 11,735,458 (GRCm39) |
|
probably null |
Het |
Ipo8 |
A |
T |
6: 148,707,842 (GRCm39) |
|
probably null |
Het |
Iqgap1 |
G |
A |
7: 80,366,835 (GRCm39) |
T1595I |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 34,212,400 (GRCm39) |
|
probably null |
Het |
Klrb1a |
T |
C |
6: 128,595,466 (GRCm39) |
D96G |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
Lrp4 |
A |
C |
2: 91,320,811 (GRCm39) |
T975P |
possibly damaging |
Het |
Lsm14a |
T |
A |
7: 34,053,204 (GRCm39) |
I283F |
probably damaging |
Het |
Mael |
T |
C |
1: 166,066,135 (GRCm39) |
D34G |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,455,015 (GRCm39) |
Q1302* |
probably null |
Het |
Mctp1 |
T |
C |
13: 76,972,999 (GRCm39) |
|
probably null |
Het |
Mlxip |
T |
C |
5: 123,585,537 (GRCm39) |
V642A |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,657,547 (GRCm39) |
E1066G |
possibly damaging |
Het |
Naa35 |
T |
A |
13: 59,765,846 (GRCm39) |
|
probably benign |
Het |
Nacc1 |
T |
A |
8: 85,403,828 (GRCm39) |
I16F |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,963,645 (GRCm39) |
N499K |
probably benign |
Het |
Or10ab4 |
A |
G |
7: 107,655,004 (GRCm39) |
M272V |
possibly damaging |
Het |
Osbpl10 |
C |
A |
9: 115,036,655 (GRCm39) |
P253Q |
probably benign |
Het |
Ptpn21 |
G |
T |
12: 98,654,800 (GRCm39) |
S722R |
probably benign |
Het |
Rab44 |
C |
T |
17: 29,358,843 (GRCm39) |
P344S |
probably benign |
Het |
Rbms2 |
C |
T |
10: 127,979,312 (GRCm39) |
R139Q |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,709,002 (GRCm39) |
Y32H |
probably damaging |
Het |
Slc6a15 |
A |
G |
10: 103,229,275 (GRCm39) |
I105V |
probably benign |
Het |
Thumpd3 |
A |
G |
6: 113,032,652 (GRCm39) |
D130G |
possibly damaging |
Het |
Trib1 |
A |
G |
15: 59,526,210 (GRCm39) |
Y260C |
probably damaging |
Het |
Tsks |
G |
T |
7: 44,601,309 (GRCm39) |
R208L |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,577,585 (GRCm39) |
S22690* |
probably null |
Het |
Ttyh2 |
T |
G |
11: 114,609,958 (GRCm39) |
S510A |
possibly damaging |
Het |
Was |
G |
T |
X: 7,952,927 (GRCm39) |
S271R |
probably benign |
Het |
Zfp267 |
T |
A |
3: 36,213,725 (GRCm39) |
C20S |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,685 (GRCm39) |
Y253* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACTTAGTGTCACAGGTTACTTCATG -3'
(R):5'- TGGTGATGAATCTGACCACTG -3'
Sequencing Primer
(F):5'- GGTTACTTCATGCACCAAACTAG -3'
(R):5'- TCTGACCACTGATAGTTAAGATAGGG -3'
|
Posted On |
2015-01-23 |