Incidental Mutation 'IGL02473:Cyp3a16'
ID |
294805 |
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: 0.155)
|
Stock # |
IGL02473
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145377304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 428
(I428V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
AlphaFold |
Q64481 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031633
AA Change: I428V
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031633 Gene: ENSMUSG00000038656 AA Change: I428V
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
G |
A |
5: 48,545,440 (GRCm39) |
|
probably benign |
Het |
9030624G23Rik |
A |
G |
12: 24,094,853 (GRCm39) |
F106S |
probably benign |
Het |
A930011G23Rik |
T |
C |
5: 99,370,854 (GRCm39) |
Y468C |
probably damaging |
Het |
Abcd3 |
T |
C |
3: 121,562,893 (GRCm39) |
T515A |
possibly damaging |
Het |
Acrbp |
A |
G |
6: 125,031,661 (GRCm39) |
T321A |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,141 (GRCm39) |
Y398C |
probably damaging |
Het |
Baz2b |
T |
A |
2: 59,790,407 (GRCm39) |
D602V |
probably benign |
Het |
Ccdc191 |
T |
C |
16: 43,777,257 (GRCm39) |
V714A |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cntn2 |
A |
G |
1: 132,446,069 (GRCm39) |
L839P |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,273,353 (GRCm39) |
T2494S |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,519,104 (GRCm39) |
Y348* |
probably null |
Het |
Dnajb3 |
C |
A |
1: 88,133,104 (GRCm39) |
E99D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,071,163 (GRCm39) |
F411L |
probably benign |
Het |
L3mbtl4 |
A |
T |
17: 68,866,772 (GRCm39) |
Y337F |
possibly damaging |
Het |
Lias |
A |
G |
5: 65,562,745 (GRCm39) |
T258A |
possibly damaging |
Het |
Lipk |
T |
A |
19: 34,016,548 (GRCm39) |
C254S |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,699,297 (GRCm39) |
L596S |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,597,385 (GRCm39) |
E703G |
possibly damaging |
Het |
Mreg |
A |
G |
1: 72,201,495 (GRCm39) |
Y166H |
probably damaging |
Het |
Or2f1b |
A |
G |
6: 42,739,640 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4b1b |
T |
C |
2: 90,112,040 (GRCm39) |
K293R |
probably null |
Het |
Pcgf2 |
A |
G |
11: 97,582,747 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
T |
C |
16: 97,638,805 (GRCm39) |
|
probably null |
Het |
Rnf111 |
A |
G |
9: 70,348,140 (GRCm39) |
V810A |
probably damaging |
Het |
Rpl23a-ps1 |
A |
T |
1: 46,020,951 (GRCm39) |
|
noncoding transcript |
Het |
Smc3 |
C |
A |
19: 53,624,879 (GRCm39) |
A779E |
probably benign |
Het |
Smtn |
C |
T |
11: 3,482,463 (GRCm39) |
G140D |
probably damaging |
Het |
Son |
T |
C |
16: 91,455,683 (GRCm39) |
S1477P |
probably damaging |
Het |
Strn |
T |
C |
17: 78,991,722 (GRCm39) |
D20G |
possibly damaging |
Het |
Tektl1 |
A |
T |
10: 78,586,428 (GRCm39) |
S208T |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,936,736 (GRCm39) |
L2798P |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,775,896 (GRCm39) |
N1715K |
probably damaging |
Het |
Vps33a |
A |
T |
5: 123,707,634 (GRCm39) |
I111N |
probably damaging |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zscan4d |
A |
T |
7: 10,896,336 (GRCm39) |
C345S |
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 |
IGL02177:Cyp3a16
|
APN |
5 |
145,386,964 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02407:Cyp3a16
|
APN |
5 |
145,388,652 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |