Incidental Mutation 'R8839:Cyp3a59'
ID |
674312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a59
|
Ensembl Gene |
ENSMUSG00000061292 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
Synonyms |
|
MMRRC Submission |
068667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8839 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 146045896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 433
(M433L)
|
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: M433L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049494 Gene: ENSMUSG00000061292 AA Change: M433L
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: 98.8%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
Edrf1 |
A |
G |
7: 133,255,644 (GRCm39) |
D597G |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
G |
6: 25,669,369 (GRCm39) |
I492L |
probably benign |
Het |
Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
Inpp5a |
T |
C |
7: 138,969,349 (GRCm39) |
V15A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,389,616 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,943,392 (GRCm39) |
|
silent |
Het |
Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
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 |
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 |
|
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'- GGGAAGGACCTGTAGCTCAG -3'
(R):5'- GCATTTTAGTTTCCACATGTAAAGC -3'
Sequencing Primer
(F):5'- TTTAGTCAGGCACTTGCAGCAAG -3'
(R):5'- GTTTCCACATGTAAAGCTTTAAGAC -3'
|
Posted On |
2021-07-15 |