Incidental Mutation 'R7228:Cyp2c69'
ID |
562321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
MMRRC Submission |
045300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7228 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 39869610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 136
(M136I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168838
AA Change: M136I
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: M136I
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
Carf |
A |
T |
1: 60,148,553 (GRCm39) |
N83I |
probably damaging |
Het |
Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
Cdc42bpb |
C |
T |
12: 111,271,527 (GRCm39) |
V1111M |
possibly damaging |
Het |
Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
Crot |
T |
A |
5: 9,026,051 (GRCm39) |
N312I |
probably damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
Trim2 |
T |
C |
3: 84,099,488 (GRCm39) |
D228G |
probably benign |
Het |
Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
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 |
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'- GGTACCTATACTCATGACATCCC -3'
(R):5'- TTTCCAGAGCAAGCTGAAAGGTG -3'
Sequencing Primer
(F):5'- TACCTATACTCATGACATCCCATTAG -3'
(R):5'- AGAGTAGAGGTCATGCTTGC -3'
|
Posted On |
2019-06-26 |