Incidental Mutation 'IGL00580:Cyp4f17'
| ID |
332698 |
| 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 # |
IGL00580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32725404-32749132 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 32743849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 342
(Y342*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165999]
|
| AlphaFold |
G3UW78 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000165999
AA Change: Y342*
|
| SMART Domains |
Protein: ENSMUSP00000129514
Gene: ENSMUSG00000091586
AA Change: Y342*
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,845 (GRCm39) |
Y406F |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,557,788 (GRCm39) |
N786K |
probably benign |
Het |
| Clcnka |
C |
T |
4: 141,118,712 (GRCm39) |
W391* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,599,508 (GRCm39) |
S882T |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 95,994,826 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
T |
4: 43,003,910 (GRCm39) |
C506* |
probably null |
Het |
| Grid2 |
A |
T |
6: 64,322,573 (GRCm39) |
L524F |
probably damaging |
Het |
| Haao |
C |
T |
17: 84,142,359 (GRCm39) |
|
probably benign |
Het |
| Il17re |
A |
G |
6: 113,446,560 (GRCm39) |
D256G |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,935,767 (GRCm39) |
F107L |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,355,691 (GRCm39) |
I232F |
probably benign |
Het |
| Kmt2b |
T |
A |
7: 30,285,938 (GRCm39) |
|
probably benign |
Het |
| Maoa |
T |
C |
X: 16,547,085 (GRCm39) |
V380A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,126,008 (GRCm39) |
T1121A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,870 (GRCm39) |
T3878A |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,549,370 (GRCm39) |
R331W |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Psen1 |
C |
T |
12: 83,777,343 (GRCm39) |
S329F |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,190,673 (GRCm39) |
T50A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,773,501 (GRCm39) |
S1148T |
probably damaging |
Het |
| Zfp599 |
G |
T |
9: 22,160,768 (GRCm39) |
Q466K |
possibly damaging |
Het |
| Zfp964 |
A |
G |
8: 70,112,043 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp4f17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02571:Cyp4f17
|
APN |
17 |
32,743,878 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
2015-08-05 |
Incidental Mutation