Incidental Mutation 'R7262:Cyp2c69'
| ID |
564721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c69
|
| Ensembl Gene |
ENSMUSG00000092008 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
| Synonyms |
AI098658 |
| MMRRC Submission |
045353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7262 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 39875176 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,946,137 (GRCm39) |
|
probably null |
Het |
| Adh5 |
C |
A |
3: 138,151,133 (GRCm39) |
A32D |
possibly damaging |
Het |
| Ap1m2 |
A |
G |
9: 21,213,762 (GRCm39) |
I295T |
possibly damaging |
Het |
| B230104I21Rik |
T |
C |
4: 154,434,091 (GRCm39) |
S92P |
unknown |
Het |
| Carnmt1 |
A |
T |
19: 18,655,228 (GRCm39) |
N127I |
probably benign |
Het |
| Ccdc42 |
A |
G |
11: 68,485,399 (GRCm39) |
T106A |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,680 (GRCm39) |
E797G |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,555,467 (GRCm39) |
V821D |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,909,500 (GRCm39) |
V212D |
probably damaging |
Het |
| Cttnbp2nl |
A |
T |
3: 104,940,062 (GRCm39) |
N2K |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,091,605 (GRCm39) |
D305G |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,512,298 (GRCm39) |
|
probably null |
Het |
| Ddx55 |
T |
C |
5: 124,704,919 (GRCm39) |
L396P |
probably benign |
Het |
| Dhx34 |
G |
A |
7: 15,937,623 (GRCm39) |
A786V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,745,432 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,474 (GRCm39) |
L943* |
probably null |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,728 (GRCm39) |
T234A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,948,175 (GRCm39) |
M145T |
probably damaging |
Het |
| Fn3k |
T |
C |
11: 121,339,741 (GRCm39) |
F168L |
probably damaging |
Het |
| Gmfb |
A |
T |
14: 47,052,386 (GRCm39) |
C87S |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,582,084 (GRCm39) |
F180S |
probably damaging |
Het |
| Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,078,616 (GRCm39) |
C123Y |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,641,712 (GRCm39) |
E37G |
possibly damaging |
Het |
| Jmjd7 |
A |
G |
2: 119,862,467 (GRCm39) |
H283R |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,219 (GRCm39) |
S1772P |
possibly damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,546 (GRCm39) |
T70A |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,925,036 (GRCm39) |
D1116E |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,970,930 (GRCm39) |
H1498Q |
probably damaging |
Het |
| Lamp1 |
A |
T |
8: 13,217,296 (GRCm39) |
T102S |
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,671,363 (GRCm39) |
D1515Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,006,715 (GRCm39) |
V1149A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,535 (GRCm39) |
T22S |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,902 (GRCm39) |
S210P |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,764 (GRCm39) |
R124G |
probably damaging |
Het |
| Pak4 |
C |
A |
7: 28,264,625 (GRCm39) |
M92I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,448 (GRCm39) |
K157R |
|
Het |
| Pcdh9 |
A |
T |
14: 93,253,141 (GRCm39) |
V1174E |
probably benign |
Het |
| Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,069 (GRCm39) |
D615G |
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,964,379 (GRCm39) |
D278E |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,229 (GRCm39) |
N108D |
probably damaging |
Het |
| Srl |
C |
A |
16: 4,315,415 (GRCm39) |
A76S |
probably damaging |
Het |
| Tbc1d16 |
C |
A |
11: 119,045,921 (GRCm39) |
V509L |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,426,820 (GRCm39) |
F357S |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,735 (GRCm39) |
L339P |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,807,112 (GRCm39) |
I27N |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,311,665 (GRCm39) |
D62G |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,853,280 (GRCm39) |
D560A |
possibly damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,579 (GRCm39) |
N405K |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,489,430 (GRCm39) |
I701K |
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 |
|
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 |
|
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'- CCTGAAGAACATAAGGCATACTTAC -3'
(R):5'- TAAGCCCAAATGTCTTACAGGC -3'
Sequencing Primer
(F):5'- AGAACATAAGGCATACTTACATTGG -3'
(R):5'- GGCACTGTACGAAAATGACAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation