Incidental Mutation 'R8474:Cyp3a59'
| ID |
657157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
067918-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 146041487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 344
(P344T)
|
| 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: P344T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: P344T
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,576,638 (GRCm39) |
S975T |
probably damaging |
Het |
| Adgrg1 |
C |
G |
8: 95,729,936 (GRCm39) |
T46S |
probably damaging |
Het |
| Akip1 |
T |
A |
7: 109,306,697 (GRCm39) |
D131E |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,015 (GRCm39) |
V163A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,301,433 (GRCm39) |
|
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,325 (GRCm39) |
L357* |
probably null |
Het |
| Bcat2 |
A |
G |
7: 45,237,075 (GRCm39) |
N194S |
probably damaging |
Het |
| Bcl2l14 |
T |
C |
6: 134,400,720 (GRCm39) |
L47P |
probably benign |
Het |
| Cbln1 |
C |
T |
8: 88,198,673 (GRCm39) |
A66T |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,710,262 (GRCm39) |
|
probably benign |
Het |
| Cd70 |
C |
T |
17: 57,456,468 (GRCm39) |
S45N |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,886,363 (GRCm39) |
A84V |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,710,792 (GRCm39) |
N804Y |
possibly damaging |
Het |
| Cmah |
A |
T |
13: 24,601,350 (GRCm39) |
N52I |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,043,518 (GRCm39) |
Y35H |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,247,978 (GRCm39) |
E705G |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,377,016 (GRCm39) |
Y125C |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,266 (GRCm39) |
Y739C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,767,929 (GRCm39) |
M203K |
possibly damaging |
Het |
| Enpep |
C |
T |
3: 129,113,076 (GRCm39) |
V283M |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,784 (GRCm39) |
H1011R |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,108,170 (GRCm39) |
F677I |
probably benign |
Het |
| Gramd1b |
A |
G |
9: 40,287,207 (GRCm39) |
|
probably null |
Het |
| Gse1 |
C |
T |
8: 121,295,123 (GRCm39) |
|
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,506 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,752,566 (GRCm39) |
S1173R |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,556,605 (GRCm39) |
T718I |
possibly damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,262 (GRCm39) |
L65P |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,107,798 (GRCm39) |
I22T |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,572 (GRCm39) |
C4409R |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,783 (GRCm39) |
W131R |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,404,839 (GRCm39) |
T190A |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,563 (GRCm39) |
D721G |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,561,745 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,903,411 (GRCm39) |
D1809A |
probably damaging |
Het |
| Nudcd2 |
C |
T |
11: 40,624,850 (GRCm39) |
Q20* |
probably null |
Het |
| Or4f62 |
T |
C |
2: 111,986,320 (GRCm39) |
M8T |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,357 (GRCm39) |
L112P |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,048 (GRCm39) |
L106H |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,272 (GRCm39) |
D335V |
probably damaging |
Het |
| Pebp4 |
T |
A |
14: 70,085,136 (GRCm39) |
C65S |
possibly damaging |
Het |
| Ptger1 |
C |
T |
8: 84,395,267 (GRCm39) |
A248V |
probably benign |
Het |
| Qki |
A |
T |
17: 10,537,747 (GRCm39) |
M19K |
probably benign |
Het |
| Ralgapa2 |
C |
G |
2: 146,266,750 (GRCm39) |
A609P |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,150 (GRCm39) |
G875D |
probably damaging |
Het |
| Runx2 |
A |
G |
17: 44,919,147 (GRCm39) |
V375A |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,836,730 (GRCm39) |
F841I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,757,552 (GRCm39) |
D514G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,934,586 (GRCm39) |
T623S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,078,963 (GRCm39) |
S588G |
probably benign |
Het |
| Stxbp6 |
A |
C |
12: 44,949,704 (GRCm39) |
V75G |
possibly damaging |
Het |
| Tmc3 |
G |
A |
7: 83,259,122 (GRCm39) |
R531Q |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,550 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tsks |
A |
T |
7: 44,600,263 (GRCm39) |
T91S |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,599 (GRCm39) |
V169A |
probably benign |
Het |
| Wdr54 |
T |
C |
6: 83,129,985 (GRCm39) |
N282S |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,052,584 (GRCm39) |
N79K |
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 |
|
|
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 |
|
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'- TCCCCTAAATTGAATGTGGTCTG -3'
(R):5'- ACTCAGGGTTTCGGTGAAGAG -3'
Sequencing Primer
(F):5'- CCTAAATTGAATGTGGTCTGTTTTCC -3'
(R):5'- GGATAGATTGGTATCATGACTACGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation