Incidental Mutation 'R8203:Cyp2c69'
| ID |
635793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c69
|
| Ensembl Gene |
ENSMUSG00000092008 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
| Synonyms |
AI098658 |
| MMRRC Submission |
067626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R8203 (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 T
at 39869584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 145
(V145E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
| AlphaFold |
E9PXC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168838
AA Change: V145E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: V145E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,369 (GRCm39) |
I148T |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,776,414 (GRCm39) |
T307A |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,315,042 (GRCm39) |
D65G |
probably damaging |
Het |
| Aicda |
T |
C |
6: 122,538,076 (GRCm39) |
V78A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,257,579 (GRCm39) |
D1282G |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,583,781 (GRCm39) |
S1271P |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,802,469 (GRCm39) |
D537N |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,693,443 (GRCm39) |
S2017T |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,596,877 (GRCm39) |
Q493H |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,594,986 (GRCm39) |
Y1371N |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,831 (GRCm39) |
T1095A |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,425,451 (GRCm39) |
M69V |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,269,827 (GRCm39) |
E185G |
probably benign |
Het |
| Dgke |
G |
A |
11: 88,941,193 (GRCm39) |
A330V |
probably benign |
Het |
| Dyrk4 |
A |
G |
6: 126,871,797 (GRCm39) |
L157P |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,240,548 (GRCm39) |
S337R |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,789,916 (GRCm39) |
M805L |
possibly damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
T |
A |
2: 113,355,620 (GRCm39) |
M785K |
unknown |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 56,423,008 (GRCm39) |
T230I |
possibly damaging |
Het |
| Gle1 |
A |
G |
2: 29,825,522 (GRCm39) |
D4G |
probably benign |
Het |
| Gm5468 |
T |
C |
15: 25,414,527 (GRCm39) |
S26P |
noncoding transcript |
Het |
| Igsf10 |
A |
T |
3: 59,236,254 (GRCm39) |
L1309Q |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,944,283 (GRCm39) |
K164R |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,333 (GRCm39) |
T111K |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,599 (GRCm39) |
T399A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,328 (GRCm39) |
I946V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,039,259 (GRCm39) |
K6927* |
probably null |
Het |
| Nipal4 |
A |
T |
11: 46,041,147 (GRCm39) |
D349E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,915,939 (GRCm39) |
T55S |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,844 (GRCm39) |
I150F |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,049,170 (GRCm39) |
N294D |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,006,676 (GRCm39) |
H154Q |
unknown |
Het |
| Polr2m |
T |
G |
9: 71,386,768 (GRCm39) |
M338L |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,376 (GRCm39) |
L995P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,705,179 (GRCm39) |
H694Q |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,670,524 (GRCm39) |
K23E |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,437,519 (GRCm39) |
Y245* |
probably null |
Het |
| Shpk |
A |
C |
11: 73,104,904 (GRCm39) |
D171A |
probably benign |
Het |
| Slc2a7 |
G |
T |
4: 150,243,015 (GRCm39) |
E279* |
probably null |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Srcin1 |
G |
T |
11: 97,457,539 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,476 (GRCm39) |
F823S |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tdrd9 |
T |
A |
12: 111,992,064 (GRCm39) |
V613E |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,563,007 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
T |
9: 120,997,274 (GRCm39) |
M766K |
probably damaging |
Het |
| Wdr36 |
G |
T |
18: 32,985,136 (GRCm39) |
G481* |
probably null |
Het |
| Yme1l1 |
G |
A |
2: 23,054,538 (GRCm39) |
R119H |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
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 |
|
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 |
|
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'- ACAAGTGACATTTGTGATTAGGGG -3'
(R):5'- GGGCTCTATAAATCTGCCACCTG -3'
Sequencing Primer
(F):5'- GGGGAATTTATGGCTTATAATGCAC -3'
(R):5'- GCTCTATAAATCTGCCACCTGTTATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation