Incidental Mutation 'R4432:Cyp3a59'
ID |
328651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a59
|
Ensembl Gene |
ENSMUSG00000061292 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
Synonyms |
|
MMRRC Submission |
041701-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146041596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035571]
[ENSMUST00000199212]
|
AlphaFold |
D3Z2W7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035571
AA Change: D380G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000049494 Gene: ENSMUSG00000061292 AA Change: D380G
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
493 |
5.3e-128 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199212
|
SMART Domains |
Protein: ENSMUSP00000142591 Gene: ENSMUSG00000061292
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
148 |
3.3e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.6446 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
Casp4 |
G |
A |
9: 5,323,653 (GRCm39) |
R74H |
probably damaging |
Het |
Cdk14 |
A |
G |
5: 5,086,427 (GRCm39) |
W298R |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
Mapkap1 |
T |
C |
2: 34,509,875 (GRCm39) |
L263P |
probably damaging |
Het |
Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
Pcid2 |
T |
C |
8: 13,135,421 (GRCm39) |
D196G |
probably damaging |
Het |
Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
Trmt9b |
A |
T |
8: 36,965,632 (GRCm39) |
I51F |
probably damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
probably damaging |
Het |
|
Other mutations in Cyp3a59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01120:Cyp3a59
|
APN |
5 |
146,039,671 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01129:Cyp3a59
|
APN |
5 |
146,035,089 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01628:Cyp3a59
|
APN |
5 |
146,036,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01982:Cyp3a59
|
APN |
5 |
146,041,545 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02094:Cyp3a59
|
APN |
5 |
146,041,631 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02140:Cyp3a59
|
APN |
5 |
146,039,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02350:Cyp3a59
|
APN |
5 |
146,016,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02357:Cyp3a59
|
APN |
5 |
146,016,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02445:Cyp3a59
|
APN |
5 |
146,033,463 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02681:Cyp3a59
|
APN |
5 |
146,027,556 (GRCm39) |
splice site |
probably benign |
|
IGL02870:Cyp3a59
|
APN |
5 |
146,034,994 (GRCm39) |
missense |
probably benign |
|
IGL03023:Cyp3a59
|
APN |
5 |
146,022,660 (GRCm39) |
missense |
probably benign |
0.02 |
PIT4802001:Cyp3a59
|
UTSW |
5 |
146,039,611 (GRCm39) |
missense |
probably benign |
0.00 |
R0220:Cyp3a59
|
UTSW |
5 |
146,035,080 (GRCm39) |
missense |
probably benign |
0.02 |
R0532:Cyp3a59
|
UTSW |
5 |
146,033,463 (GRCm39) |
nonsense |
probably null |
|
R1084:Cyp3a59
|
UTSW |
5 |
146,033,484 (GRCm39) |
missense |
probably benign |
|
R1263:Cyp3a59
|
UTSW |
5 |
146,041,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R1573:Cyp3a59
|
UTSW |
5 |
146,039,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R1747:Cyp3a59
|
UTSW |
5 |
146,041,568 (GRCm39) |
missense |
probably benign |
|
R1759:Cyp3a59
|
UTSW |
5 |
146,035,060 (GRCm39) |
missense |
probably benign |
0.10 |
R1812:Cyp3a59
|
UTSW |
5 |
146,039,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Cyp3a59
|
UTSW |
5 |
146,031,187 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2026:Cyp3a59
|
UTSW |
5 |
146,033,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Cyp3a59
|
UTSW |
5 |
146,041,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R2355:Cyp3a59
|
UTSW |
5 |
146,036,622 (GRCm39) |
missense |
probably benign |
0.09 |
R3721:Cyp3a59
|
UTSW |
5 |
146,033,407 (GRCm39) |
missense |
probably damaging |
0.96 |
R4013:Cyp3a59
|
UTSW |
5 |
146,016,193 (GRCm39) |
missense |
probably benign |
0.01 |
R4421:Cyp3a59
|
UTSW |
5 |
146,041,713 (GRCm39) |
splice site |
probably null |
|
R4633:Cyp3a59
|
UTSW |
5 |
146,031,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Cyp3a59
|
UTSW |
5 |
146,033,071 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4886:Cyp3a59
|
UTSW |
5 |
146,024,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5236:Cyp3a59
|
UTSW |
5 |
146,039,635 (GRCm39) |
missense |
probably benign |
0.20 |
R5386:Cyp3a59
|
UTSW |
5 |
146,022,578 (GRCm39) |
missense |
probably benign |
0.01 |
R5627:Cyp3a59
|
UTSW |
5 |
146,049,664 (GRCm39) |
missense |
probably benign |
0.00 |
R5792:Cyp3a59
|
UTSW |
5 |
146,036,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5935:Cyp3a59
|
UTSW |
5 |
146,027,455 (GRCm39) |
nonsense |
probably null |
|
R6531:Cyp3a59
|
UTSW |
5 |
146,035,027 (GRCm39) |
missense |
probably benign |
0.00 |
R6790:Cyp3a59
|
UTSW |
5 |
146,033,143 (GRCm39) |
missense |
probably benign |
|
R7108:Cyp3a59
|
UTSW |
5 |
146,033,143 (GRCm39) |
missense |
probably benign |
|
R7222:Cyp3a59
|
UTSW |
5 |
146,033,385 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7447:Cyp3a59
|
UTSW |
5 |
146,024,215 (GRCm39) |
missense |
probably benign |
0.25 |
R7457:Cyp3a59
|
UTSW |
5 |
146,041,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7723:Cyp3a59
|
UTSW |
5 |
146,016,154 (GRCm39) |
missense |
probably benign |
0.06 |
R8171:Cyp3a59
|
UTSW |
5 |
146,022,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8417:Cyp3a59
|
UTSW |
5 |
146,027,495 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8474:Cyp3a59
|
UTSW |
5 |
146,041,487 (GRCm39) |
missense |
probably benign |
0.01 |
R8716:Cyp3a59
|
UTSW |
5 |
146,033,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R8728:Cyp3a59
|
UTSW |
5 |
146,035,122 (GRCm39) |
critical splice donor site |
probably null |
|
R8839:Cyp3a59
|
UTSW |
5 |
146,045,896 (GRCm39) |
missense |
probably benign |
|
R8969:Cyp3a59
|
UTSW |
5 |
146,049,630 (GRCm39) |
missense |
probably benign |
0.15 |
R9478:Cyp3a59
|
UTSW |
5 |
146,034,997 (GRCm39) |
missense |
probably damaging |
0.98 |
R9697:Cyp3a59
|
UTSW |
5 |
146,031,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R9705:Cyp3a59
|
UTSW |
5 |
146,033,120 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Cyp3a59
|
UTSW |
5 |
146,035,032 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTTAGACCTTAGAGCTTCTGAAG -3'
(R):5'- GGGACCAAATCTATTCAAACCATG -3'
Sequencing Primer
(F):5'- GATTAAATCCAAGCCTCATCTGG -3'
(R):5'- CTGTATCTCTTTACAGCATGGAACAG -3'
|
Posted On |
2015-07-21 |