Incidental Mutation 'R0976:Cyp3a57'
| ID |
81157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a57
|
| Ensembl Gene |
ENSMUSG00000070419 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
| Synonyms |
EG622127 |
| MMRRC Submission |
039105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0976 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145282089-145327736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145327278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 490
(I490V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079268]
[ENSMUST00000174696]
|
| AlphaFold |
D3YYZ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079268
AA Change: I490V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: I490V
| 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 |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,807,227 (GRCm39) |
I1147F |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,621 (GRCm39) |
|
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,060 (GRCm39) |
E551G |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,475,254 (GRCm39) |
L153Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 47,248,164 (GRCm39) |
P1190L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,342,144 (GRCm39) |
D416V |
probably damaging |
Het |
| Cyp2c67 |
G |
T |
19: 39,631,818 (GRCm39) |
F126L |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,228,098 (GRCm39) |
|
probably null |
Het |
| Fam83f |
T |
A |
15: 80,576,285 (GRCm39) |
V312E |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,828,375 (GRCm39) |
D6724G |
possibly damaging |
Het |
| Gabrr3 |
G |
T |
16: 59,281,887 (GRCm39) |
C414F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| H2bc18 |
T |
A |
3: 96,177,402 (GRCm39) |
V112E |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,347,160 (GRCm39) |
K2005M |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,048,936 (GRCm39) |
N338K |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,205,760 (GRCm39) |
D39G |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,690,411 (GRCm39) |
R306S |
possibly damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,349 (GRCm39) |
R285G |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,154,144 (GRCm39) |
I591T |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,152 (GRCm39) |
L101S |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,335,236 (GRCm39) |
S517P |
probably damaging |
Het |
| Pdcd2l |
G |
T |
7: 33,895,771 (GRCm39) |
D67E |
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,683,943 (GRCm39) |
D1146E |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,136,946 (GRCm39) |
Y62N |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,148,013 (GRCm39) |
*935R |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,658,877 (GRCm39) |
F155L |
probably damaging |
Het |
| Stag1 |
G |
A |
9: 100,812,069 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
T |
7: 126,474,323 (GRCm39) |
R302Q |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,445,882 (GRCm39) |
V103A |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,349 (GRCm39) |
I79N |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,606 (GRCm39) |
T144I |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,559,343 (GRCm39) |
N622S |
possibly damaging |
Het |
| Trappc9 |
T |
A |
15: 72,871,823 (GRCm39) |
Q489L |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,108 (GRCm39) |
T677A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,104 (GRCm39) |
F292L |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAAGCTCAAGAATGATGGCCGAT -3'
(R):5'- TGGTCCCACGAGAATCAGAAGATGA -3'
Sequencing Primer
(F):5'- CTCAAGAATGATGGCCGATATAAATG -3'
(R):5'- GAATCTCCACGTCTAACATTGAGTC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation