Incidental Mutation 'R2366:Cyp2c69'
ID |
246359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c69
|
Ensembl Gene |
ENSMUSG00000092008 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
Synonyms |
AI098658 |
MMRRC Submission |
040347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39866038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 185
(N185S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
AlphaFold |
E9PXC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168838
AA Change: N185S
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132832 Gene: ENSMUSG00000092008 AA Change: N185S
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630091E08Rik |
G |
A |
7: 98,192,949 (GRCm39) |
|
noncoding transcript |
Het |
Adamts5 |
C |
T |
16: 85,659,646 (GRCm39) |
G882D |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,379 (GRCm39) |
V82A |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,731,035 (GRCm39) |
I726N |
probably damaging |
Het |
Cd38 |
T |
G |
5: 44,060,932 (GRCm39) |
|
probably benign |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col6a6 |
C |
A |
9: 105,632,893 (GRCm39) |
G1457V |
probably damaging |
Het |
Cyp2d12 |
T |
A |
15: 82,439,355 (GRCm39) |
L3Q |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Drc1 |
A |
G |
5: 30,523,894 (GRCm39) |
*754W |
probably null |
Het |
Erbin |
G |
A |
13: 103,981,417 (GRCm39) |
H503Y |
probably damaging |
Het |
F3 |
G |
A |
3: 121,526,194 (GRCm39) |
|
probably null |
Het |
Gm10033 |
A |
T |
8: 69,826,232 (GRCm39) |
M112K |
unknown |
Het |
Gps1 |
A |
C |
11: 120,678,945 (GRCm39) |
I404L |
probably damaging |
Het |
Hc |
T |
C |
2: 34,903,648 (GRCm39) |
N1002S |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,080,236 (GRCm39) |
I571T |
probably benign |
Het |
Knop1 |
C |
A |
7: 118,451,751 (GRCm39) |
V323F |
possibly damaging |
Het |
Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
Lsm5 |
T |
C |
6: 56,680,003 (GRCm39) |
D53G |
probably damaging |
Het |
Lzts1 |
T |
C |
8: 69,593,257 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
T |
18: 35,721,448 (GRCm39) |
N473I |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,052,008 (GRCm39) |
V452A |
probably damaging |
Het |
Napsa |
T |
A |
7: 44,231,909 (GRCm39) |
D44E |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,290,511 (GRCm39) |
F1036S |
probably damaging |
Het |
Ncapg2 |
G |
A |
12: 116,384,349 (GRCm39) |
W270* |
probably null |
Het |
Nherf1 |
G |
A |
11: 115,054,454 (GRCm39) |
V35M |
probably benign |
Het |
Or5af1 |
C |
A |
11: 58,722,039 (GRCm39) |
Q20K |
probably benign |
Het |
Pik3ca |
G |
A |
3: 32,516,943 (GRCm39) |
W1057* |
probably null |
Het |
Pkd1l2 |
A |
T |
8: 117,770,056 (GRCm39) |
D1133E |
probably benign |
Het |
Pramel39-ps |
T |
C |
5: 94,450,972 (GRCm39) |
K385E |
probably benign |
Het |
Prox1 |
T |
A |
1: 189,894,079 (GRCm39) |
E122V |
probably damaging |
Het |
Rest |
C |
A |
5: 77,416,034 (GRCm39) |
H83N |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,288,491 (GRCm39) |
I68V |
probably damaging |
Het |
Stx6 |
A |
T |
1: 155,077,706 (GRCm39) |
I238L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqln3 |
C |
A |
7: 103,790,256 (GRCm39) |
Q611H |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,445,770 (GRCm39) |
H559Q |
probably benign |
Het |
Vipr1 |
T |
G |
9: 121,494,250 (GRCm39) |
V277G |
probably benign |
Het |
Zfp101 |
A |
T |
17: 33,599,972 (GRCm39) |
C595S |
probably benign |
Het |
Zfp398 |
C |
T |
6: 47,840,143 (GRCm39) |
T124I |
possibly 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 |
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 |
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'- TGAAGTACTTGTCTGACATGTCTC -3'
(R):5'- CACCATTCTTCAGCAGGTAAGTAC -3'
Sequencing Primer
(F):5'- AGTACTTGTCTGACATGTCTCTATTG -3'
(R):5'- CAGGTAAGTACCTAGCAGTTA -3'
|
Posted On |
2014-10-30 |