Incidental Mutation 'IGL02177:Cyp3a16'
ID |
283141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp3a16
|
Ensembl Gene |
ENSMUSG00000038656 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
IGL02177
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145386964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 342
(N342I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
AlphaFold |
Q64481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031633
AA Change: N342I
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031633 Gene: ENSMUSG00000038656 AA Change: N342I
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:p450
|
38 |
494 |
5.5e-132 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
G |
19: 53,205,323 (GRCm39) |
Y24* |
probably null |
Het |
Catsperb |
A |
G |
12: 101,507,721 (GRCm39) |
Y496C |
probably damaging |
Het |
Ccdc183 |
C |
T |
2: 25,502,095 (GRCm39) |
E260K |
probably benign |
Het |
Ccdc81 |
A |
C |
7: 89,524,988 (GRCm39) |
M531R |
possibly damaging |
Het |
Defb43 |
T |
C |
14: 63,249,266 (GRCm39) |
V3A |
probably benign |
Het |
Dpyd |
T |
A |
3: 118,858,559 (GRCm39) |
I591N |
possibly damaging |
Het |
Dpysl5 |
T |
G |
5: 30,902,622 (GRCm39) |
V18G |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,580 (GRCm39) |
M69L |
probably benign |
Het |
Fam184b |
G |
T |
5: 45,690,157 (GRCm39) |
Y817* |
probably null |
Het |
Fyb1 |
G |
T |
15: 6,688,047 (GRCm39) |
|
probably null |
Het |
Gpr33 |
G |
T |
12: 52,070,863 (GRCm39) |
Q59K |
probably benign |
Het |
Heatr3 |
T |
G |
8: 88,883,351 (GRCm39) |
F278V |
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,819,103 (GRCm39) |
D1292E |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,341,793 (GRCm39) |
M1861L |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,242,627 (GRCm39) |
L614Q |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,318,588 (GRCm39) |
R915G |
possibly damaging |
Het |
Jhy |
T |
C |
9: 40,809,553 (GRCm39) |
D646G |
probably damaging |
Het |
Lrig1 |
T |
A |
6: 94,640,977 (GRCm39) |
N76I |
possibly damaging |
Het |
Macc1 |
A |
G |
12: 119,429,292 (GRCm39) |
D814G |
probably damaging |
Het |
Mapk8ip1 |
T |
C |
2: 92,217,092 (GRCm39) |
D401G |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,654,439 (GRCm39) |
S865T |
probably damaging |
Het |
Or9s27 |
G |
A |
1: 92,516,479 (GRCm39) |
M142I |
possibly damaging |
Het |
Pi4ka |
A |
T |
16: 17,136,146 (GRCm39) |
D937E |
probably benign |
Het |
Prkcd |
T |
A |
14: 30,327,844 (GRCm39) |
I81F |
probably damaging |
Het |
Ranbp9 |
A |
T |
13: 43,573,193 (GRCm39) |
C280S |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scn1b |
T |
C |
7: 30,816,655 (GRCm39) |
*219W |
probably null |
Het |
Slain2 |
T |
C |
5: 73,072,008 (GRCm39) |
V14A |
probably benign |
Het |
Soat1 |
A |
T |
1: 156,268,073 (GRCm39) |
|
probably benign |
Het |
Tbc1d4 |
T |
A |
14: 101,692,375 (GRCm39) |
M1030L |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,544,869 (GRCm39) |
V2295A |
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,987,661 (GRCm39) |
Y46H |
probably damaging |
Het |
Tnfsf18 |
A |
T |
1: 161,331,354 (GRCm39) |
D168V |
probably damaging |
Het |
Trdn |
T |
C |
10: 33,015,169 (GRCm39) |
V41A |
probably damaging |
Het |
Trpc5 |
G |
T |
X: 143,264,234 (GRCm39) |
L208I |
probably damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,139 (GRCm39) |
Y295H |
probably benign |
Het |
Vmn2r18 |
T |
G |
5: 151,510,274 (GRCm39) |
H33P |
possibly damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,881 (GRCm39) |
I118M |
probably benign |
Het |
|
Other mutations in Cyp3a16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01386:Cyp3a16
|
APN |
5 |
145,377,244 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01964:Cyp3a16
|
APN |
5 |
145,392,372 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02007:Cyp3a16
|
APN |
5 |
145,378,758 (GRCm39) |
splice site |
probably benign |
|
IGL02139:Cyp3a16
|
APN |
5 |
145,392,290 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02407:Cyp3a16
|
APN |
5 |
145,388,652 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02473:Cyp3a16
|
APN |
5 |
145,377,304 (GRCm39) |
missense |
possibly damaging |
0.54 |
polywog
|
UTSW |
5 |
145,404,280 (GRCm39) |
nonsense |
probably null |
|
R0363:Cyp3a16
|
UTSW |
5 |
145,392,689 (GRCm39) |
splice site |
probably benign |
|
R0556:Cyp3a16
|
UTSW |
5 |
145,392,790 (GRCm39) |
missense |
probably benign |
0.37 |
R0557:Cyp3a16
|
UTSW |
5 |
145,406,398 (GRCm39) |
missense |
unknown |
|
R0636:Cyp3a16
|
UTSW |
5 |
145,399,895 (GRCm39) |
missense |
probably benign |
0.03 |
R0749:Cyp3a16
|
UTSW |
5 |
145,392,987 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0788:Cyp3a16
|
UTSW |
5 |
145,401,886 (GRCm39) |
missense |
probably benign |
0.00 |
R1552:Cyp3a16
|
UTSW |
5 |
145,373,346 (GRCm39) |
missense |
probably benign |
0.01 |
R1575:Cyp3a16
|
UTSW |
5 |
145,373,267 (GRCm39) |
missense |
probably benign |
0.01 |
R1580:Cyp3a16
|
UTSW |
5 |
145,378,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Cyp3a16
|
UTSW |
5 |
145,378,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1642:Cyp3a16
|
UTSW |
5 |
145,406,399 (GRCm39) |
missense |
unknown |
|
R1763:Cyp3a16
|
UTSW |
5 |
145,401,841 (GRCm39) |
critical splice donor site |
probably null |
|
R2029:Cyp3a16
|
UTSW |
5 |
145,388,667 (GRCm39) |
missense |
probably damaging |
0.96 |
R2144:Cyp3a16
|
UTSW |
5 |
145,392,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Cyp3a16
|
UTSW |
5 |
145,377,177 (GRCm39) |
missense |
probably benign |
0.01 |
R2473:Cyp3a16
|
UTSW |
5 |
145,392,404 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2860:Cyp3a16
|
UTSW |
5 |
145,392,309 (GRCm39) |
nonsense |
probably null |
|
R2861:Cyp3a16
|
UTSW |
5 |
145,392,309 (GRCm39) |
nonsense |
probably null |
|
R3747:Cyp3a16
|
UTSW |
5 |
145,378,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Cyp3a16
|
UTSW |
5 |
145,373,267 (GRCm39) |
missense |
probably benign |
0.01 |
R4781:Cyp3a16
|
UTSW |
5 |
145,392,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4873:Cyp3a16
|
UTSW |
5 |
145,389,659 (GRCm39) |
missense |
probably benign |
0.01 |
R4875:Cyp3a16
|
UTSW |
5 |
145,389,659 (GRCm39) |
missense |
probably benign |
0.01 |
R4925:Cyp3a16
|
UTSW |
5 |
145,389,644 (GRCm39) |
missense |
probably benign |
0.00 |
R5365:Cyp3a16
|
UTSW |
5 |
145,389,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Cyp3a16
|
UTSW |
5 |
145,404,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R5640:Cyp3a16
|
UTSW |
5 |
145,389,633 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5761:Cyp3a16
|
UTSW |
5 |
145,378,843 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6401:Cyp3a16
|
UTSW |
5 |
145,377,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R6526:Cyp3a16
|
UTSW |
5 |
145,392,705 (GRCm39) |
missense |
probably benign |
0.01 |
R6528:Cyp3a16
|
UTSW |
5 |
145,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Cyp3a16
|
UTSW |
5 |
145,399,980 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7268:Cyp3a16
|
UTSW |
5 |
145,404,280 (GRCm39) |
nonsense |
probably null |
|
R7630:Cyp3a16
|
UTSW |
5 |
145,373,120 (GRCm39) |
splice site |
probably null |
|
R7938:Cyp3a16
|
UTSW |
5 |
145,389,666 (GRCm39) |
missense |
probably benign |
0.00 |
R8827:Cyp3a16
|
UTSW |
5 |
145,387,008 (GRCm39) |
missense |
probably benign |
0.38 |
R9040:Cyp3a16
|
UTSW |
5 |
145,392,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9137:Cyp3a16
|
UTSW |
5 |
145,406,413 (GRCm39) |
missense |
unknown |
|
R9139:Cyp3a16
|
UTSW |
5 |
145,406,434 (GRCm39) |
missense |
unknown |
|
R9140:Cyp3a16
|
UTSW |
5 |
145,406,434 (GRCm39) |
missense |
unknown |
|
R9284:Cyp3a16
|
UTSW |
5 |
145,377,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Cyp3a16
|
UTSW |
5 |
145,386,979 (GRCm39) |
missense |
probably null |
1.00 |
R9680:Cyp3a16
|
UTSW |
5 |
145,389,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |