Incidental Mutation 'IGL01368:Cyp3a57'
ID |
76011 |
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 # |
IGL01368
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145305878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
AlphaFold |
D3YYZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079268
AA Change: S121P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078251 Gene: ENSMUSG00000070419 AA Change: S121P
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
493 |
6.5e-131 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174696
AA Change: S121P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133600 Gene: ENSMUSG00000070419 AA Change: S121P
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
Het |
Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
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 |
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 |
2013-10-07 |