Incidental Mutation 'R0220:Cyp3a59'
| ID |
33781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
038469-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0220 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146035080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 253
(V253I)
|
| 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: V253I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: V253I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,195,194 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,187,852 (GRCm39) |
V863A |
probably benign |
Het |
| Anxa6 |
A |
C |
11: 54,872,588 (GRCm39) |
|
probably null |
Het |
| Armc10 |
A |
G |
5: 21,866,582 (GRCm39) |
K296R |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,287,293 (GRCm39) |
F38I |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bcl6 |
T |
A |
16: 23,784,969 (GRCm39) |
H677L |
possibly damaging |
Het |
| Bcl7a |
G |
A |
5: 123,489,982 (GRCm39) |
V49I |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,254 (GRCm39) |
L144P |
probably damaging |
Het |
| Cdh8 |
G |
T |
8: 99,838,311 (GRCm39) |
P510T |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,632,225 (GRCm39) |
K375N |
possibly damaging |
Het |
| Cubn |
C |
A |
2: 13,361,520 (GRCm39) |
R1695L |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,476 (GRCm39) |
I208T |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,759,727 (GRCm39) |
E277D |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,542 (GRCm39) |
V625I |
probably benign |
Het |
| Dot1l |
A |
T |
10: 80,621,692 (GRCm39) |
D448V |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,582 (GRCm39) |
D253G |
probably damaging |
Het |
| Eme1 |
T |
A |
11: 94,541,084 (GRCm39) |
E246V |
probably null |
Het |
| Foxred1 |
A |
G |
9: 35,120,749 (GRCm39) |
L128P |
probably damaging |
Het |
| Gm4787 |
G |
T |
12: 81,425,422 (GRCm39) |
S245R |
probably damaging |
Het |
| Gm5141 |
T |
A |
13: 62,922,271 (GRCm39) |
K299N |
probably damaging |
Het |
| Greb1 |
C |
A |
12: 16,732,287 (GRCm39) |
R1558L |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,364,203 (GRCm39) |
F282I |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,374,947 (GRCm39) |
D288G |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,418 (GRCm39) |
V480E |
probably benign |
Het |
| Kif26a |
A |
T |
12: 112,123,824 (GRCm39) |
Q143L |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,829 (GRCm39) |
D97N |
probably benign |
Het |
| Krt34 |
C |
T |
11: 99,929,519 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
A |
T |
2: 25,667,843 (GRCm39) |
H77L |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,342,672 (GRCm39) |
R529H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,936 (GRCm39) |
E368G |
probably damaging |
Het |
| Mtus1 |
A |
T |
8: 41,447,609 (GRCm39) |
M442K |
probably damaging |
Het |
| Naca |
T |
C |
10: 127,879,255 (GRCm39) |
|
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,724 (GRCm39) |
T1021I |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,013 (GRCm39) |
V530E |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,467 (GRCm39) |
V283A |
probably damaging |
Het |
| Opn5 |
A |
G |
17: 42,907,495 (GRCm39) |
V127A |
probably benign |
Het |
| Or4c126 |
G |
T |
2: 89,824,206 (GRCm39) |
L156F |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,095 (GRCm39) |
M116K |
probably damaging |
Het |
| Pcgf6 |
A |
G |
19: 47,028,529 (GRCm39) |
V291A |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,869,459 (GRCm39) |
R47L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,383,027 (GRCm39) |
S72A |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,214,167 (GRCm39) |
F144S |
possibly damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,319,505 (GRCm39) |
D798V |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,068,999 (GRCm39) |
S563P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,368 (GRCm39) |
H426R |
possibly damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,271 (GRCm39) |
C138S |
possibly damaging |
Het |
| Traf1 |
A |
T |
2: 34,839,115 (GRCm39) |
V70D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,641,737 (GRCm39) |
Y13453C |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,183,931 (GRCm39) |
V97D |
possibly damaging |
Het |
| Ugt1a8 |
A |
T |
1: 88,016,057 (GRCm39) |
I157L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,332 (GRCm39) |
C700S |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,723,733 (GRCm39) |
D216V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,163,198 (GRCm39) |
Y533H |
unknown |
Het |
| Zfp1005 |
A |
T |
2: 150,110,595 (GRCm39) |
Q428H |
unknown |
Het |
| Zfp81 |
A |
G |
17: 33,555,698 (GRCm39) |
I43T |
possibly damaging |
Het |
| Zfp963 |
A |
T |
8: 70,196,145 (GRCm39) |
Y103N |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,196,143 (GRCm39) |
Y103* |
probably null |
Het |
| Zzef1 |
G |
T |
11: 72,756,792 (GRCm39) |
D1126Y |
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 |
|
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 |
|
|
R4432:Cyp3a59
|
UTSW |
5 |
146,041,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- TGTACCGagcccatttagtattgctct -3'
(R):5'- ACTGTGTGCATCATGACCAAACCC -3'
Sequencing Primer
(F):5'- caacctttctacccccacatc -3'
(R):5'- TGACCAAACCCTAAGAATCATGAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation