Incidental Mutation 'R9530:Cyp2c69'
| ID |
719463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c69
|
| Ensembl Gene |
ENSMUSG00000092008 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
| Synonyms |
AI098658 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39848311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 304
(S304P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
| AlphaFold |
E9PXC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168838
AA Change: S304P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: S304P
| 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: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,165 (GRCm39) |
N96S |
possibly damaging |
Het |
| Acsl6 |
C |
T |
11: 54,220,783 (GRCm39) |
T301I |
probably damaging |
Het |
| Ankrd7 |
C |
A |
6: 18,868,258 (GRCm39) |
Q127K |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,064,612 (GRCm39) |
M155V |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,107,306 (GRCm39) |
C61W |
probably damaging |
Het |
| Atosb |
C |
T |
4: 43,034,753 (GRCm39) |
R322Q |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,491 (GRCm39) |
E550* |
probably null |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,175,411 (GRCm39) |
I922T |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,410,291 (GRCm39) |
I656V |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,069 (GRCm39) |
V201A |
probably benign |
Het |
| Heatr1 |
G |
A |
13: 12,439,607 (GRCm39) |
R1395H |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,382 (GRCm39) |
I578T |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,602,899 (GRCm39) |
L526* |
probably null |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,677 (GRCm39) |
M22T |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,591,808 (GRCm39) |
E17G |
possibly damaging |
Het |
| Mast2 |
A |
C |
4: 116,169,535 (GRCm39) |
L766R |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,030,124 (GRCm39) |
V420M |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,831 (GRCm39) |
V1153A |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,340,998 (GRCm39) |
I196N |
possibly damaging |
Het |
| Or7g21 |
G |
A |
9: 19,033,051 (GRCm39) |
V264I |
probably benign |
Het |
| Polrmt |
C |
T |
10: 79,574,545 (GRCm39) |
A883T |
probably benign |
Het |
| Prkcg |
G |
A |
7: 3,375,965 (GRCm39) |
D537N |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,655 (GRCm39) |
D452E |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,879,269 (GRCm39) |
D585G |
probably null |
Het |
| St18 |
T |
A |
1: 6,872,997 (GRCm39) |
I244N |
probably benign |
Het |
| Stat1 |
T |
A |
1: 52,187,160 (GRCm39) |
|
probably null |
Het |
| Stk39 |
A |
G |
2: 68,198,755 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tas2r140 |
G |
A |
6: 133,032,494 (GRCm39) |
S88F |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,072,507 (GRCm39) |
E308G |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,604,687 (GRCm39) |
T486A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,817 (GRCm39) |
T42A |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Triobp |
G |
C |
15: 78,886,321 (GRCm39) |
G1867R |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,104 (GRCm39) |
H6R |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,562 (GRCm39) |
I7N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,639 (GRCm39) |
S294T |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,340,633 (GRCm39) |
V197A |
probably benign |
Het |
| Zcchc4 |
CAGAG |
CAG |
5: 52,953,568 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,527,010 (GRCm39) |
E969G |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,824,665 (GRCm39) |
C215F |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,514 (GRCm39) |
L145Q |
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 |
|
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 |
|
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'- TCATTAAAGCCAATGGGACTGAAAG -3'
(R):5'- ATCTACACCACAGTCTCTGAAATG -3'
Sequencing Primer
(F):5'- CCAATGGGACTGAAAGTTGAATACTG -3'
(R):5'- GCCACTGATCAACATTTTAGATTCTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation