Incidental Mutation 'R7723:Cyp3a59'
| ID |
595332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| MMRRC Submission |
045779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7723 (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 146016154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 4
(I4F)
|
| 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: I4F
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: I4F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
38 |
493 |
5.3e-128 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199212
AA Change: I4F
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292
AA Change: I4F
| 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 |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
C |
T |
1: 146,577,409 (GRCm39) |
T148I |
probably damaging |
Het |
| C1qa |
A |
T |
4: 136,623,744 (GRCm39) |
C153* |
probably null |
Het |
| Camkk1 |
G |
T |
11: 72,928,058 (GRCm39) |
R363L |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,946,798 (GRCm39) |
|
probably null |
Het |
| Cenpu |
T |
C |
8: 47,029,349 (GRCm39) |
S351P |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,741,837 (GRCm39) |
L1609F |
unknown |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,475,236 (GRCm39) |
V93A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,499,786 (GRCm39) |
M785L |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,223,954 (GRCm39) |
C598* |
probably null |
Het |
| Fer |
T |
C |
17: 64,203,273 (GRCm39) |
S68P |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,279,158 (GRCm39) |
T22I |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,945,415 (GRCm39) |
D278G |
possibly damaging |
Het |
| Kdm1a |
C |
T |
4: 136,285,060 (GRCm39) |
V520I |
probably benign |
Het |
| Lrrc4c |
G |
T |
2: 97,460,999 (GRCm39) |
V542L |
possibly damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,427 (GRCm39) |
T247A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,717 (GRCm39) |
S4929G |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,822,324 (GRCm39) |
H428Q |
possibly damaging |
Het |
| Mink1 |
C |
G |
11: 70,503,736 (GRCm39) |
Q1183E |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,687,141 (GRCm39) |
P82L |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,320,784 (GRCm39) |
T102A |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,486,375 (GRCm39) |
I230T |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,965,347 (GRCm39) |
T1644S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5j |
A |
T |
9: 39,867,920 (GRCm39) |
Y104N |
possibly damaging |
Het |
| Or13p10 |
A |
G |
4: 118,522,914 (GRCm39) |
S67G |
probably benign |
Het |
| Or2at4 |
A |
G |
7: 99,384,884 (GRCm39) |
Y178C |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,358 (GRCm39) |
L104* |
probably null |
Het |
| Or5d44 |
A |
C |
2: 88,141,819 (GRCm39) |
V107G |
possibly damaging |
Het |
| Palld |
C |
T |
8: 62,164,492 (GRCm39) |
V400I |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,258 (GRCm39) |
V261A |
probably damaging |
Het |
| Pcdhb3 |
C |
A |
18: 37,435,565 (GRCm39) |
N510K |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,325 (GRCm39) |
Y79N |
probably damaging |
Het |
| Phc2 |
C |
T |
4: 128,616,882 (GRCm39) |
A385V |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,785,942 (GRCm39) |
T771A |
possibly damaging |
Het |
| Psmb6 |
T |
C |
11: 70,417,396 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,639 (GRCm39) |
T487A |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,298 (GRCm39) |
M595K |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,752 (GRCm39) |
V14D |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,693 (GRCm39) |
S203* |
probably null |
Het |
| Serinc1 |
G |
A |
10: 57,403,918 (GRCm39) |
P15L |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,995,103 (GRCm39) |
I93T |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,795 (GRCm39) |
I619F |
probably damaging |
Het |
| Snx25 |
A |
C |
8: 46,491,516 (GRCm39) |
V858G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,441,572 (GRCm39) |
C1903Y |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,867 (GRCm39) |
I156N |
probably benign |
Het |
| Tasp1 |
G |
T |
2: 139,827,051 (GRCm39) |
T189K |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,851 (GRCm39) |
M1399K |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,278,232 (GRCm39) |
C1092F |
probably damaging |
Het |
| Tmem150a |
G |
A |
6: 72,336,057 (GRCm39) |
V215I |
probably damaging |
Het |
| Tmem176b |
C |
T |
6: 48,812,869 (GRCm39) |
V109I |
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,321 (GRCm39) |
I69K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,638,419 (GRCm39) |
L13954I |
probably damaging |
Het |
| Veph1 |
C |
A |
3: 66,113,093 (GRCm39) |
C237F |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 20,832,119 (GRCm39) |
T107I |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,458,567 (GRCm39) |
M300I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,673 (GRCm39) |
D1089G |
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 |
|
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 |
|
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'- ACAAATTTGGGCAGTGTGC -3'
(R):5'- GAAGCTCCTAGAATGGCCAGTG -3'
Sequencing Primer
(F):5'- CAAGTGGCCCTTGTACTGG -3'
(R):5'- AGCTCCTAGAATGGCCAGTGATATTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation