Incidental Mutation 'R7222:Cyp3a59'
| ID |
561877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
045294-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 146033385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035571]
[ENSMUST00000035571]
[ENSMUST00000199212]
|
| AlphaFold |
D3Z2W7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035571
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
5.3e-128 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000035571
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,082,519 (GRCm39) |
N1151K |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,205,277 (GRCm39) |
V9A |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,514 (GRCm39) |
I832T |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,248,580 (GRCm39) |
W785L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,512,394 (GRCm39) |
Q490* |
probably null |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,749,904 (GRCm39) |
N993I |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,670,746 (GRCm39) |
N651Y |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,404,929 (GRCm39) |
|
probably null |
Het |
| Eva1c |
AGGGTGTCCTGTACGAAGGACTTCCGGG |
AGGG |
16: 90,701,072 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
A |
3: 93,195,621 (GRCm39) |
S74T |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,784,045 (GRCm39) |
Y850H |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,784,668 (GRCm39) |
T884S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,814,015 (GRCm39) |
T3445A |
probably benign |
Het |
| Herc1 |
C |
A |
9: 66,374,781 (GRCm39) |
P3237H |
probably damaging |
Het |
| Ifi35 |
A |
G |
11: 101,348,341 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,733 (GRCm39) |
D94V |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,309,614 (GRCm39) |
D764G |
probably damaging |
Het |
| Lztr1 |
A |
G |
16: 17,341,996 (GRCm39) |
E657G |
possibly damaging |
Het |
| Mmd2 |
G |
T |
5: 142,553,682 (GRCm39) |
L160I |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,290,758 (GRCm39) |
T15S |
|
Het |
| Muc6 |
T |
A |
7: 141,214,428 (GRCm39) |
H2835L |
unknown |
Het |
| Myo1h |
G |
A |
5: 114,493,322 (GRCm39) |
|
probably null |
Het |
| Or10v5 |
C |
A |
19: 11,806,021 (GRCm39) |
R123L |
probably damaging |
Het |
| Or51ag1 |
A |
G |
7: 103,155,664 (GRCm39) |
V163A |
possibly damaging |
Het |
| Or52n4 |
T |
C |
7: 104,293,937 (GRCm39) |
D214G |
probably damaging |
Het |
| Or5d43 |
T |
A |
2: 88,104,809 (GRCm39) |
M195L |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,021,844 (GRCm39) |
D22G |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,758 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,388,763 (GRCm39) |
V261E |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,951,364 (GRCm39) |
T684A |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,803 (GRCm39) |
K219R |
probably benign |
Het |
| Pde4d |
A |
T |
13: 109,894,113 (GRCm39) |
H156L |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,906,995 (GRCm39) |
E2319* |
probably null |
Het |
| Ranbp3 |
T |
G |
17: 57,017,211 (GRCm39) |
V409G |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,884,717 (GRCm39) |
D629G |
probably benign |
Het |
| Selenon |
T |
A |
4: 134,275,288 (GRCm39) |
T137S |
possibly damaging |
Het |
| Setd2 |
T |
A |
9: 110,380,530 (GRCm39) |
D55E |
|
Het |
| Slamf8 |
G |
A |
1: 172,411,775 (GRCm39) |
T240I |
possibly damaging |
Het |
| Slc39a10 |
A |
G |
1: 46,858,452 (GRCm39) |
L615P |
possibly damaging |
Het |
| Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Tbce |
T |
C |
13: 14,172,735 (GRCm39) |
D505G |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,754,004 (GRCm39) |
G800R |
probably damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,547 (GRCm39) |
V145A |
possibly damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,511,256 (GRCm39) |
I41V |
probably benign |
Het |
| Traj49 |
A |
T |
14: 54,406,160 (GRCm39) |
N6I |
|
Het |
| Trim30a |
T |
C |
7: 104,070,639 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,190,684 (GRCm39) |
S905T |
unknown |
Het |
| Unc93a2 |
A |
G |
17: 7,643,866 (GRCm39) |
S148P |
probably damaging |
Het |
| Zfp948 |
T |
A |
17: 21,808,102 (GRCm39) |
H431Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,601,779 (GRCm39) |
F525L |
probably benign |
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 |
|
|
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 |
|
|
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'- AACCCTGAGAATACGACATCTG -3'
(R):5'- GATGTATGGACCTTTGGTAAACAAC -3'
Sequencing Primer
(F):5'- TGAGAATACGACATCTGCAAACTG -3'
(R):5'- GGACCTTTGGTAAACAACAATTGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation