Incidental Mutation 'IGL03400:Cyp4f16'
| ID |
421384 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp4f16
|
| Ensembl Gene |
ENSMUSG00000048440 |
| Gene Name |
cytochrome P450, family 4, subfamily f, polypeptide 16 |
| Synonyms |
2310021J05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32755532-32770772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32769327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 406
(I406V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003416]
[ENSMUST00000165515]
[ENSMUST00000169252]
[ENSMUST00000169591]
|
| AlphaFold |
Q99N17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003416
AA Change: I406V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: I406V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165515
|
| SMART Domains |
Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169252
|
| SMART Domains |
Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169591
AA Change: I406V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: I406V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
52 |
515 |
4.7e-133 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
| Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
| Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
| Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
| Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
| Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
| Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
| Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
| Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
| Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
| Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
| Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
| St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
| Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
Het |
|
| Other mutations in Cyp4f16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02941:Cyp4f16
|
APN |
17 |
32,756,061 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0437:Cyp4f16
|
UTSW |
17 |
32,756,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0454:Cyp4f16
|
UTSW |
17 |
32,756,061 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0482:Cyp4f16
|
UTSW |
17 |
32,769,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Cyp4f16
|
UTSW |
17 |
32,761,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1435:Cyp4f16
|
UTSW |
17 |
32,769,708 (GRCm39) |
nonsense |
probably null |
|
|
R1440:Cyp4f16
|
UTSW |
17 |
32,769,708 (GRCm39) |
nonsense |
probably null |
|
|
R1616:Cyp4f16
|
UTSW |
17 |
32,761,942 (GRCm39) |
nonsense |
probably null |
|
|
R1840:Cyp4f16
|
UTSW |
17 |
32,761,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1854:Cyp4f16
|
UTSW |
17 |
32,756,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1912:Cyp4f16
|
UTSW |
17 |
32,764,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2200:Cyp4f16
|
UTSW |
17 |
32,756,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3803:Cyp4f16
|
UTSW |
17 |
32,763,858 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4811:Cyp4f16
|
UTSW |
17 |
32,764,080 (GRCm39) |
missense |
probably benign |
|
|
R4812:Cyp4f16
|
UTSW |
17 |
32,765,652 (GRCm39) |
missense |
probably null |
1.00 |
|
R4837:Cyp4f16
|
UTSW |
17 |
32,761,738 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4867:Cyp4f16
|
UTSW |
17 |
32,769,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4909:Cyp4f16
|
UTSW |
17 |
32,769,295 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5857:Cyp4f16
|
UTSW |
17 |
32,755,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Cyp4f16
|
UTSW |
17 |
32,763,116 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6013:Cyp4f16
|
UTSW |
17 |
32,765,652 (GRCm39) |
missense |
probably null |
1.00 |
|
R6408:Cyp4f16
|
UTSW |
17 |
32,770,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Cyp4f16
|
UTSW |
17 |
32,763,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7463:Cyp4f16
|
UTSW |
17 |
32,769,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7923:Cyp4f16
|
UTSW |
17 |
32,765,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9622:Cyp4f16
|
UTSW |
17 |
32,769,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF005:Cyp4f16
|
UTSW |
17 |
32,764,169 (GRCm39) |
splice site |
probably null |
|
|
X0017:Cyp4f16
|
UTSW |
17 |
32,763,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation