Incidental Mutation 'R2305:Cyp3a57'
ID |
244555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a57
|
Ensembl Gene |
ENSMUSG00000070419 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 57 |
Synonyms |
EG622127 |
MMRRC Submission |
040304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
C |
A |
2: 58,171,711 (GRCm39) |
D295Y |
probably damaging |
Het |
Adamts7 |
A |
G |
9: 90,062,764 (GRCm39) |
D406G |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,775,979 (GRCm39) |
S1443P |
possibly damaging |
Het |
Casp8ap2 |
A |
T |
4: 32,646,411 (GRCm39) |
K1828I |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,743,236 (GRCm39) |
|
probably benign |
Het |
Defb21 |
T |
A |
2: 152,416,791 (GRCm39) |
L89Q |
possibly damaging |
Het |
Dnah5 |
A |
T |
15: 28,387,913 (GRCm39) |
E3124V |
probably benign |
Het |
Efcab7 |
A |
G |
4: 99,719,718 (GRCm39) |
T67A |
possibly damaging |
Het |
Exo1 |
C |
T |
1: 175,716,327 (GRCm39) |
P148L |
probably damaging |
Het |
Hps4 |
A |
G |
5: 112,494,527 (GRCm39) |
I37V |
probably damaging |
Het |
Krt9 |
T |
A |
11: 100,083,942 (GRCm39) |
M30L |
unknown |
Het |
Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
Or10ak12 |
T |
G |
4: 118,666,058 (GRCm39) |
Q318H |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,451 (GRCm39) |
E15G |
probably benign |
Het |
Phf3 |
G |
A |
1: 30,844,556 (GRCm39) |
Q1468* |
probably null |
Het |
Phkb |
A |
G |
8: 86,770,431 (GRCm39) |
K900R |
possibly damaging |
Het |
Pirb |
G |
A |
7: 3,715,990 (GRCm39) |
H755Y |
probably benign |
Het |
Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,468,284 (GRCm39) |
|
probably benign |
Het |
Pus1 |
C |
A |
5: 110,922,826 (GRCm39) |
M232I |
probably benign |
Het |
Serpina3a |
C |
A |
12: 104,082,787 (GRCm39) |
Q187K |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Syne1 |
C |
T |
10: 4,997,573 (GRCm39) |
E465K |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,584,336 (GRCm39) |
T360A |
probably damaging |
Het |
Tlk2 |
T |
G |
11: 105,132,417 (GRCm39) |
I217R |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,758,338 (GRCm39) |
D377G |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,146,195 (GRCm39) |
D866G |
probably damaging |
Het |
Tubd1 |
T |
A |
11: 86,446,017 (GRCm39) |
I219N |
probably benign |
Het |
Ugt3a1 |
C |
A |
15: 9,351,203 (GRCm39) |
P71T |
probably benign |
Het |
Vmn1r64 |
A |
G |
7: 5,887,535 (GRCm39) |
S3P |
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 |
|
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 |
|
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'- GCATTATGGTACTGAGCAGGG -3'
(R):5'- GCAGAAGTCTTCAGGCTCTG -3'
Sequencing Primer
(F):5'- AGCTCTAATAGTTATACCTCACATCC -3'
(R):5'- TCTGGCCAGTACTCGGG -3'
|
Posted On |
2014-10-30 |