Incidental Mutation 'R5236:Cyp3a59'
ID |
398383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a59
|
Ensembl Gene |
ENSMUSG00000061292 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
Synonyms |
|
MMRRC Submission |
044393-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5236 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146039635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 303
(I303V)
|
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: I303V
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000049494 Gene: ENSMUSG00000061292 AA Change: I303V
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9630041A04Rik |
T |
A |
9: 101,820,120 (GRCm39) |
I180N |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
Agrn |
A |
T |
4: 156,263,315 (GRCm39) |
C263S |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
Arid4b |
A |
G |
13: 14,301,034 (GRCm39) |
|
probably null |
Het |
Bin2 |
T |
C |
15: 100,560,415 (GRCm39) |
N49D |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,884,251 (GRCm39) |
T364A |
probably damaging |
Het |
Cdcp1 |
A |
T |
9: 123,014,258 (GRCm39) |
V172D |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,148,351 (GRCm39) |
L2670P |
probably damaging |
Het |
Cmtm4 |
G |
C |
8: 105,084,378 (GRCm39) |
F105L |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,502,754 (GRCm39) |
Y153C |
probably benign |
Het |
Ctsa |
G |
A |
2: 164,680,831 (GRCm39) |
V453M |
probably damaging |
Het |
Cyp4f17 |
T |
C |
17: 32,739,606 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,203,498 (GRCm39) |
R447C |
probably damaging |
Het |
E2f7 |
C |
T |
10: 110,603,070 (GRCm39) |
P362S |
probably damaging |
Het |
Fbxw9 |
A |
G |
8: 85,792,974 (GRCm39) |
T407A |
probably damaging |
Het |
Fyb2 |
T |
C |
4: 104,805,957 (GRCm39) |
S346P |
probably benign |
Het |
Git2 |
T |
A |
5: 114,905,233 (GRCm39) |
I75L |
probably damaging |
Het |
H2-DMa |
T |
A |
17: 34,356,913 (GRCm39) |
L137Q |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hrg |
T |
C |
16: 22,780,263 (GRCm39) |
|
probably benign |
Het |
Htr7 |
A |
T |
19: 36,034,169 (GRCm39) |
I162N |
probably damaging |
Het |
Itpripl1 |
A |
T |
2: 126,983,770 (GRCm39) |
F117L |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,187,237 (GRCm39) |
Y392C |
probably damaging |
Het |
Krt27 |
A |
C |
11: 99,241,641 (GRCm39) |
S87A |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,111,487 (GRCm39) |
V2246A |
probably benign |
Het |
Lcn2 |
A |
T |
2: 32,275,973 (GRCm39) |
M119K |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,287,163 (GRCm39) |
|
probably null |
Het |
Lrp6 |
T |
C |
6: 134,488,227 (GRCm39) |
N290D |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,291,614 (GRCm39) |
E2517G |
probably damaging |
Het |
Melk |
G |
A |
4: 44,344,959 (GRCm39) |
C363Y |
probably benign |
Het |
Mettl22 |
T |
A |
16: 8,306,597 (GRCm39) |
L351* |
probably null |
Het |
Mms22l |
A |
G |
4: 24,588,347 (GRCm39) |
Q953R |
probably benign |
Het |
Ndufaf7 |
T |
C |
17: 79,247,060 (GRCm39) |
S107P |
probably benign |
Het |
Opa3 |
A |
G |
7: 18,978,682 (GRCm39) |
Y49C |
probably damaging |
Het |
Or2a12 |
A |
C |
6: 42,904,715 (GRCm39) |
R183S |
probably benign |
Het |
Or9a2 |
C |
A |
6: 41,749,045 (GRCm39) |
G63C |
probably benign |
Het |
Pabpn1 |
T |
A |
14: 55,132,399 (GRCm39) |
M145K |
possibly damaging |
Het |
Plce1 |
A |
C |
19: 38,758,791 (GRCm39) |
M1982L |
probably benign |
Het |
Ppcdc |
A |
C |
9: 57,321,937 (GRCm39) |
I201S |
probably benign |
Het |
Rag2 |
A |
T |
2: 101,460,005 (GRCm39) |
D105V |
probably damaging |
Het |
Rnf130 |
C |
T |
11: 49,986,805 (GRCm39) |
T383I |
probably damaging |
Het |
Sgip1 |
T |
G |
4: 102,784,784 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
A |
2: 131,917,504 (GRCm39) |
I245F |
probably damaging |
Het |
Slc4a9 |
A |
G |
18: 36,663,900 (GRCm39) |
Y308C |
probably benign |
Het |
Slc7a15 |
C |
T |
12: 8,589,005 (GRCm39) |
V181M |
probably benign |
Het |
Sprr2b |
G |
A |
3: 92,224,943 (GRCm39) |
C63Y |
unknown |
Het |
Stpg2 |
A |
T |
3: 138,937,984 (GRCm39) |
Y181F |
probably damaging |
Het |
Sult2a5 |
A |
T |
7: 13,398,974 (GRCm39) |
T194S |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,259,362 (GRCm39) |
Q411L |
possibly damaging |
Het |
Tln2 |
T |
A |
9: 67,273,205 (GRCm39) |
E427V |
probably damaging |
Het |
Trpv4 |
A |
C |
5: 114,760,856 (GRCm39) |
V825G |
possibly damaging |
Het |
Trrap |
A |
G |
5: 144,754,596 (GRCm39) |
I1968V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,619,146 (GRCm39) |
L16078F |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,805,888 (GRCm39) |
F132I |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,060,654 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
T |
7: 85,272,877 (GRCm39) |
N564Y |
probably damaging |
Het |
Zfp638 |
G |
T |
6: 83,953,557 (GRCm39) |
E1221* |
probably null |
Het |
Zfp934 |
A |
T |
13: 62,665,527 (GRCm39) |
H371Q |
probably damaging |
Het |
Zranb3 |
A |
G |
1: 127,968,726 (GRCm39) |
L63P |
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 |
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 |
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'- CCCAGTTACTGTGAACTGCC -3'
(R):5'- TCTTTTAGACACGTGCTGGG -3'
Sequencing Primer
(F):5'- AGTTACTGTGAACTGCCTTTTTCTG -3'
(R):5'- GGAAGAACCATTGTATAGCTCTCTG -3'
|
Posted On |
2016-07-06 |