Incidental Mutation 'IGL02571:Cyp4f17'
| ID |
298997 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp4f17
|
| Ensembl Gene |
ENSMUSG00000091586 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 17 |
| Synonyms |
EG208285 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32725404-32749132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32743878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 352
(E352G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165999]
|
| AlphaFold |
G3UW78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165999
AA Change: E352G
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129514
Gene: ENSMUSG00000091586
AA Change: E352G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
515 |
3.5e-135 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
T |
C |
14: 60,249,907 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,845 (GRCm39) |
E885K |
possibly damaging |
Het |
| Dip2b |
T |
C |
15: 100,055,766 (GRCm39) |
W373R |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,072 (GRCm39) |
R148L |
probably damaging |
Het |
| Gem |
C |
A |
4: 11,713,628 (GRCm39) |
Q255K |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,341,887 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,803,134 (GRCm39) |
N2161I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,415,235 (GRCm39) |
F1325L |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,132,016 (GRCm39) |
K267R |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,178 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,219,592 (GRCm39) |
|
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,258 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,949,841 (GRCm39) |
D74G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,536,519 (GRCm39) |
G399D |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,319,453 (GRCm39) |
I536T |
probably damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,250 (GRCm39) |
S192R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,798,023 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rubcnl |
A |
T |
14: 75,269,576 (GRCm39) |
Q78L |
possibly damaging |
Het |
| Sis |
C |
A |
3: 72,863,637 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,628,370 (GRCm39) |
M320V |
probably benign |
Het |
| Vmn1r178 |
C |
T |
7: 23,593,660 (GRCm39) |
T236I |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,481,053 (GRCm39) |
D273G |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,394,583 (GRCm39) |
N1033T |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,584 (GRCm39) |
T254A |
probably damaging |
Het |
|
| Other mutations in Cyp4f17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Cyp4f17
|
APN |
17 |
32,743,849 (GRCm39) |
nonsense |
probably null |
|
|
IGL01767:Cyp4f17
|
APN |
17 |
32,725,956 (GRCm39) |
missense |
probably benign |
|
|
IGL01867:Cyp4f17
|
APN |
17 |
32,747,057 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02009:Cyp4f17
|
APN |
17 |
32,743,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Cyp4f17
|
APN |
17 |
32,725,923 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02503:Cyp4f17
|
APN |
17 |
32,743,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03328:Cyp4f17
|
APN |
17 |
32,739,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Cyp4f17
|
UTSW |
17 |
32,743,023 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
PIT4810001:Cyp4f17
|
UTSW |
17 |
32,743,574 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0486:Cyp4f17
|
UTSW |
17 |
32,743,797 (GRCm39) |
splice site |
probably benign |
|
|
R0606:Cyp4f17
|
UTSW |
17 |
32,746,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0655:Cyp4f17
|
UTSW |
17 |
32,743,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1781:Cyp4f17
|
UTSW |
17 |
32,742,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1795:Cyp4f17
|
UTSW |
17 |
32,736,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1833:Cyp4f17
|
UTSW |
17 |
32,743,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2268:Cyp4f17
|
UTSW |
17 |
32,736,928 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3030:Cyp4f17
|
UTSW |
17 |
32,725,950 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3861:Cyp4f17
|
UTSW |
17 |
32,747,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5236:Cyp4f17
|
UTSW |
17 |
32,739,606 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5450:Cyp4f17
|
UTSW |
17 |
32,747,860 (GRCm39) |
missense |
probably benign |
|
|
R5866:Cyp4f17
|
UTSW |
17 |
32,725,887 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5886:Cyp4f17
|
UTSW |
17 |
32,743,013 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5965:Cyp4f17
|
UTSW |
17 |
32,743,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6692:Cyp4f17
|
UTSW |
17 |
32,725,950 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7056:Cyp4f17
|
UTSW |
17 |
32,746,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7968:Cyp4f17
|
UTSW |
17 |
32,743,116 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8458:Cyp4f17
|
UTSW |
17 |
32,739,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:Cyp4f17
|
UTSW |
17 |
32,746,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8818:Cyp4f17
|
UTSW |
17 |
32,743,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Cyp4f17
|
UTSW |
17 |
32,743,868 (GRCm39) |
nonsense |
probably null |
|
|
R9360:Cyp4f17
|
UTSW |
17 |
32,743,880 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9375:Cyp4f17
|
UTSW |
17 |
32,747,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9690:Cyp4f17
|
UTSW |
17 |
32,725,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation