Incidental Mutation 'IGL02213:Cyp3a57'
ID |
284747 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp3a57
|
Ensembl Gene |
ENSMUSG00000070419 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
Synonyms |
EG622127 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02213
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145318090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 357
(D357G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
AlphaFold |
D3YYZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079268
AA Change: D357G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078251 Gene: ENSMUSG00000070419 AA Change: D357G
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
493 |
6.5e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174696
|
SMART Domains |
Protein: ENSMUSP00000133600 Gene: ENSMUSG00000070419
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
147 |
1.8e-21 |
PFAM |
|
Meta Mutation Damage Score |
0.4870 |
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
G |
A |
9: 54,523,254 (GRCm39) |
R458C |
probably damaging |
Het |
Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,789,087 (GRCm39) |
|
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
Mbd1 |
A |
T |
18: 74,408,453 (GRCm39) |
I231F |
probably damaging |
Het |
Mre11a |
T |
A |
9: 14,723,180 (GRCm39) |
F358I |
probably damaging |
Het |
Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
Nostrin |
T |
C |
2: 69,014,262 (GRCm39) |
L406P |
probably benign |
Het |
Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
probably benign |
Het |
|
Other mutations in Cyp3a57 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Cyp3a57
|
APN |
5 |
145,307,834 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00656:Cyp3a57
|
APN |
5 |
145,309,359 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01368:Cyp3a57
|
APN |
5 |
145,305,878 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01602:Cyp3a57
|
APN |
5 |
145,323,854 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01605:Cyp3a57
|
APN |
5 |
145,323,854 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Cyp3a57
|
APN |
5 |
145,309,439 (GRCm39) |
missense |
probably benign |
|
IGL02191:Cyp3a57
|
APN |
5 |
145,302,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Cyp3a57
|
APN |
5 |
145,305,953 (GRCm39) |
splice site |
probably null |
|
R0141:Cyp3a57
|
UTSW |
5 |
145,298,912 (GRCm39) |
missense |
probably benign |
0.05 |
R0720:Cyp3a57
|
UTSW |
5 |
145,327,213 (GRCm39) |
splice site |
probably benign |
|
R0765:Cyp3a57
|
UTSW |
5 |
145,327,220 (GRCm39) |
splice site |
probably benign |
|
R0976:Cyp3a57
|
UTSW |
5 |
145,327,278 (GRCm39) |
missense |
probably benign |
0.01 |
R1494:Cyp3a57
|
UTSW |
5 |
145,318,077 (GRCm39) |
missense |
probably damaging |
0.97 |
R1624:Cyp3a57
|
UTSW |
5 |
145,327,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1732:Cyp3a57
|
UTSW |
5 |
145,302,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Cyp3a57
|
UTSW |
5 |
145,307,820 (GRCm39) |
missense |
probably benign |
0.06 |
R1839:Cyp3a57
|
UTSW |
5 |
145,318,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Cyp3a57
|
UTSW |
5 |
145,318,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R2095:Cyp3a57
|
UTSW |
5 |
145,305,944 (GRCm39) |
nonsense |
probably null |
|
R2305:Cyp3a57
|
UTSW |
5 |
145,318,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Cyp3a57
|
UTSW |
5 |
145,286,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4289:Cyp3a57
|
UTSW |
5 |
145,286,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R4463:Cyp3a57
|
UTSW |
5 |
145,318,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Cyp3a57
|
UTSW |
5 |
145,311,074 (GRCm39) |
missense |
probably benign |
0.00 |
R4598:Cyp3a57
|
UTSW |
5 |
145,327,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Cyp3a57
|
UTSW |
5 |
145,307,538 (GRCm39) |
splice site |
probably null |
|
R4853:Cyp3a57
|
UTSW |
5 |
145,302,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R4954:Cyp3a57
|
UTSW |
5 |
145,307,765 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4977:Cyp3a57
|
UTSW |
5 |
145,286,236 (GRCm39) |
splice site |
probably null |
|
R5162:Cyp3a57
|
UTSW |
5 |
145,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Cyp3a57
|
UTSW |
5 |
145,302,507 (GRCm39) |
missense |
probably benign |
0.04 |
R5470:Cyp3a57
|
UTSW |
5 |
145,309,429 (GRCm39) |
missense |
probably benign |
0.12 |
R5568:Cyp3a57
|
UTSW |
5 |
145,307,456 (GRCm39) |
missense |
probably benign |
0.01 |
R5652:Cyp3a57
|
UTSW |
5 |
145,286,135 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5872:Cyp3a57
|
UTSW |
5 |
145,307,867 (GRCm39) |
nonsense |
probably null |
|
R6855:Cyp3a57
|
UTSW |
5 |
145,309,376 (GRCm39) |
missense |
probably damaging |
0.97 |
R6861:Cyp3a57
|
UTSW |
5 |
145,307,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6893:Cyp3a57
|
UTSW |
5 |
145,323,784 (GRCm39) |
nonsense |
probably null |
|
R7081:Cyp3a57
|
UTSW |
5 |
145,318,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7305:Cyp3a57
|
UTSW |
5 |
145,307,795 (GRCm39) |
missense |
probably benign |
0.03 |
R8987:Cyp3a57
|
UTSW |
5 |
145,311,040 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8987:Cyp3a57
|
UTSW |
5 |
145,311,039 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9317:Cyp3a57
|
UTSW |
5 |
145,309,421 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9368:Cyp3a57
|
UTSW |
5 |
145,318,159 (GRCm39) |
missense |
probably benign |
0.01 |
R9505:Cyp3a57
|
UTSW |
5 |
145,286,139 (GRCm39) |
missense |
probably benign |
0.40 |
Z1177:Cyp3a57
|
UTSW |
5 |
145,302,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |