Incidental Mutation 'IGL03047:Cyp4f17'
| ID |
392242 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03047 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
32725404-32749132 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32743023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 232
(I232K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165999]
|
| AlphaFold |
G3UW78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165999
AA Change: I232K
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129514
Gene: ENSMUSG00000091586
AA Change: I232K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
515 |
3.5e-135 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
| 4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
| Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
| Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
| Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
| Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
| Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
| Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
| Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
| Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
| Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
| Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
| Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
| Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
| Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
| Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
| Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
| Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
| Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
| Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
| Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGCTACTCACGGGAAG -3'
(R):5'- AAGAGCACATCGATGAAGTCC -3'
Sequencing Primer
(F):5'- CTACTCACGGGAAGCAGGAAG -3'
(R):5'- CATCGATGAAGTCCAGGGTTTTAGAC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation