Incidental Mutation 'R3030:Cyp4f17'
| ID |
264710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4f17
|
| Ensembl Gene |
ENSMUSG00000091586 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 17 |
| Synonyms |
EG208285 |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32725404-32749132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32725950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 28
(S28P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165999]
|
| AlphaFold |
G3UW78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165999
AA Change: S28P
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129514
Gene: ENSMUSG00000091586
AA Change: S28P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
515 |
3.5e-135 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,941,160 (GRCm39) |
D46V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,672,678 (GRCm39) |
E575V |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,591,184 (GRCm39) |
K199E |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,676,521 (GRCm39) |
I291V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,402 (GRCm39) |
S236P |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACCATCTCTGTCCAGTG -3'
(R):5'- ATGCCGGGTATGTGACTAGATAG -3'
Sequencing Primer
(F):5'- ATCTCTGTCCAGTGACCATGGAG -3'
(R):5'- CCGGGTATGTGACTAGATAGAGACTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation