Incidental Mutation 'R4843:Cyp3a59'
| ID |
371982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
042456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 146033071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 148
(I148F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035571]
[ENSMUST00000199212]
|
| AlphaFold |
D3Z2W7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035571
AA Change: I148F
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: I148F
| 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 |
0.1526 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
T |
A |
12: 30,946,144 (GRCm39) |
K124* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,806,691 (GRCm39) |
C338F |
possibly damaging |
Het |
| Adam5 |
G |
A |
8: 25,303,552 (GRCm39) |
S125F |
probably damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,477,271 (GRCm39) |
A44D |
possibly damaging |
Het |
| AW554918 |
T |
C |
18: 25,473,057 (GRCm39) |
V84A |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,388 (GRCm39) |
T3222M |
unknown |
Het |
| Car15 |
A |
G |
16: 17,654,472 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Cdca2 |
G |
T |
14: 67,914,425 (GRCm39) |
P945T |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,348,172 (GRCm39) |
F182L |
probably damaging |
Het |
| Cers6 |
G |
A |
2: 68,899,003 (GRCm39) |
A214T |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,057,893 (GRCm39) |
M136K |
probably damaging |
Het |
| Cnppd1 |
A |
G |
1: 75,113,086 (GRCm39) |
V394A |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,986,920 (GRCm39) |
A3624V |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,394,487 (GRCm39) |
|
probably benign |
Het |
| Fap |
G |
T |
2: 62,374,718 (GRCm39) |
P227Q |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,738,151 (GRCm39) |
R15H |
possibly damaging |
Het |
| Gm11011 |
T |
C |
2: 169,429,240 (GRCm39) |
|
probably benign |
Het |
| Gm11146 |
A |
C |
16: 77,392,144 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,920 (GRCm39) |
R84Q |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,796,192 (GRCm39) |
C19R |
possibly damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,979,916 (GRCm39) |
D102G |
possibly damaging |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
| Kank1 |
T |
G |
19: 25,408,371 (GRCm39) |
S1283R |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,594,504 (GRCm39) |
H95L |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,207,777 (GRCm39) |
L314Q |
unknown |
Het |
| Marveld3 |
C |
A |
8: 110,688,702 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtrf1l |
G |
T |
10: 5,773,696 (GRCm39) |
P23Q |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p69 |
G |
A |
7: 107,967,350 (GRCm39) |
A218T |
probably benign |
Het |
| Or6c1b |
G |
T |
10: 129,273,316 (GRCm39) |
V212L |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Plod3 |
G |
A |
5: 137,019,854 (GRCm39) |
W428* |
probably null |
Het |
| Pnisr |
T |
A |
4: 21,857,400 (GRCm39) |
|
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,157,368 (GRCm39) |
R1046L |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,753,582 (GRCm39) |
I99N |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,155,073 (GRCm39) |
T149A |
probably damaging |
Het |
| Rpf2 |
C |
A |
10: 40,122,998 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,536,017 (GRCm39) |
D190E |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,668,642 (GRCm39) |
V443G |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,988,644 (GRCm39) |
F555L |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,749 (GRCm39) |
K270R |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,847 (GRCm39) |
N2230I |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,477,021 (GRCm39) |
|
probably benign |
Het |
| Tpsg1 |
A |
T |
17: 25,589,591 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,146 (GRCm39) |
S1057G |
probably benign |
Het |
| Unc13d |
G |
A |
11: 115,965,085 (GRCm39) |
T220M |
probably damaging |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,904 (GRCm39) |
T65A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,536,974 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,222,220 (GRCm39) |
I85T |
possibly damaging |
Het |
| Zfp677 |
C |
T |
17: 21,612,788 (GRCm39) |
T2I |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
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 |
|
|
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 |
|
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'- GGCTACTTAAGAGCAGCATGG -3'
(R):5'- TACCTGGTGTCAGTTTGCAG -3'
Sequencing Primer
(F):5'- GCTGCATTGAATCAGTCAGC -3'
(R):5'- CAGTTTGCAGATGTCGTATTCTCAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation