Incidental Mutation 'IGL01120:Cyp3a59'
| ID |
51141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp3a59
|
| Ensembl Gene |
ENSMUSG00000061292 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 59 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146016067-146050097 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146039671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 315
(S315T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035571]
[ENSMUST00000199212]
|
| AlphaFold |
D3Z2W7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035571
AA Change: S315T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: S315T
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
| Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
T |
12: 17,358,294 (GRCm39) |
E88K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
| Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
A |
T |
4: 91,152,309 (GRCm39) |
M136K |
probably damaging |
Het |
| Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
| Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
| Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
| Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
| Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
| Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
| Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
| Ptcd1 |
C |
T |
5: 145,089,053 (GRCm39) |
|
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
| Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,876,472 (GRCm39) |
L648P |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
| Slc34a1 |
T |
A |
13: 55,556,884 (GRCm39) |
L241H |
probably damaging |
Het |
| Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
| Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
| Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
| Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
| Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
| Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
probably benign |
Het |
|
| Other mutations in Cyp3a59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation