Incidental Mutation 'R6278:Cyp2c69'
| ID |
507806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c69
|
| Ensembl Gene |
ENSMUSG00000092008 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 69 |
| Synonyms |
AI098658 |
| MMRRC Submission |
044448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39831258-39875243 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 39831507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 435
(C435*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168838]
|
| AlphaFold |
E9PXC3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000168838
AA Change: C435*
|
| SMART Domains |
Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: C435*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
7e-152 |
PFAM |
|
| Meta Mutation Damage Score |
0.9753 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
| Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,802,729 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
| Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
| Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
| Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
| Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
| Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
| Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
| Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
| Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
| Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
| Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
| Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
| Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
| Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
| Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
| Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
| Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
| Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
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 |
|
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'- TAAATGAGGGCTTCCATGGGC -3'
(R):5'- TGTGTCTCTGCTTAACTAGATATCC -3'
Sequencing Primer
(F):5'- CTTCCATGGGCGATTGAGAAAAAC -3'
(R):5'- CAATGCCTCTCAAACTCACT -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation