Incidental Mutation 'IGL00334:Cyp3a57'
| ID |
5499 |
| 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 # |
IGL00334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145307834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 197
(N197Y)
|
| 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: N197Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: N197Y
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
T |
G |
13: 94,075,787 (GRCm39) |
H423Q |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,400 (GRCm39) |
L620I |
possibly damaging |
Het |
| Ces1f |
T |
C |
8: 93,994,620 (GRCm39) |
T264A |
probably benign |
Het |
| Clcn6 |
C |
A |
4: 148,102,359 (GRCm39) |
|
probably null |
Het |
| Cyb5r3 |
C |
A |
15: 83,044,605 (GRCm39) |
A138S |
probably benign |
Het |
| Dctn2 |
A |
G |
10: 127,113,559 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,566 (GRCm39) |
A1197T |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,595,488 (GRCm39) |
D436G |
probably damaging |
Het |
| Drd4 |
A |
G |
7: 140,872,096 (GRCm39) |
N49S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,205,373 (GRCm39) |
V521D |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,800 (GRCm39) |
S714P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,517,664 (GRCm39) |
I178T |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,806,021 (GRCm39) |
C138S |
possibly damaging |
Het |
| H1f8 |
T |
A |
6: 115,924,588 (GRCm39) |
|
probably benign |
Het |
| Hdx |
T |
A |
X: 110,492,578 (GRCm39) |
I623F |
probably benign |
Het |
| Huwe1 |
T |
G |
X: 150,668,623 (GRCm39) |
L843V |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,447,604 (GRCm39) |
Y86H |
probably damaging |
Het |
| Irf7 |
A |
T |
7: 140,844,553 (GRCm39) |
S157T |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,346,140 (GRCm39) |
M331K |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,926 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mamdc2 |
A |
C |
19: 23,356,138 (GRCm39) |
Y103* |
probably null |
Het |
| Map2k3 |
T |
C |
11: 60,834,041 (GRCm39) |
V77A |
possibly damaging |
Het |
| Mideas |
G |
A |
12: 84,219,629 (GRCm39) |
R442* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,639,417 (GRCm39) |
D403E |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,676,516 (GRCm39) |
V496D |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,321,042 (GRCm39) |
V2051A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,262 (GRCm39) |
L2575P |
probably damaging |
Het |
| Or10j5 |
T |
G |
1: 172,785,158 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or51a6 |
T |
C |
7: 102,604,311 (GRCm39) |
K173E |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,277 (GRCm39) |
I66N |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,780,098 (GRCm39) |
Y89H |
probably benign |
Het |
| Poglut3 |
T |
A |
9: 53,309,330 (GRCm39) |
|
probably benign |
Het |
| Poglut3 |
C |
A |
9: 53,309,328 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,034 (GRCm39) |
Q594* |
probably null |
Het |
| Ptpro |
T |
G |
6: 137,371,907 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,615,917 (GRCm39) |
K28E |
possibly damaging |
Het |
| Shox2 |
T |
C |
3: 66,888,774 (GRCm39) |
E39G |
possibly damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,449,930 (GRCm39) |
D122V |
probably benign |
Het |
| Smr3a |
A |
C |
5: 88,155,919 (GRCm39) |
|
probably benign |
Het |
| Spmip8 |
G |
A |
8: 96,039,676 (GRCm39) |
R31H |
probably damaging |
Het |
| Taf4 |
G |
T |
2: 179,618,418 (GRCm39) |
L8M |
unknown |
Het |
| Tbkbp1 |
T |
A |
11: 97,028,474 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
G |
T |
5: 123,253,230 (GRCm39) |
E210D |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,253,229 (GRCm39) |
|
probably null |
Het |
| Trim21 |
C |
T |
7: 102,208,805 (GRCm39) |
V305M |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,859,439 (GRCm39) |
L353Q |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,572 (GRCm39) |
N274K |
probably benign |
Het |
|
| Other mutations in Cyp3a57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02213:Cyp3a57
|
APN |
5 |
145,318,090 (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 |
2012-04-20 |
Incidental Mutation