Incidental Mutation 'IGL02139:Cyp3a16'
ID |
281458 |
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 # |
IGL02139
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145392290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 222
(S222P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
AlphaFold |
Q64481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031633
AA Change: S222P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000031633 Gene: ENSMUSG00000038656 AA Change: S222P
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
G |
A |
4: 124,504,369 (GRCm39) |
T61M |
unknown |
Het |
Adam34l |
T |
A |
8: 44,078,615 (GRCm39) |
R536S |
probably benign |
Het |
Ambn |
T |
C |
5: 88,613,149 (GRCm39) |
F217L |
probably benign |
Het |
Cast |
T |
C |
13: 74,876,484 (GRCm39) |
D121G |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,747,358 (GRCm39) |
I730V |
probably benign |
Het |
Cryzl1 |
T |
C |
16: 91,509,139 (GRCm39) |
K54R |
possibly damaging |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,020,243 (GRCm39) |
D906G |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,602,081 (GRCm39) |
T428A |
probably benign |
Het |
Fbxw16 |
T |
G |
9: 109,265,754 (GRCm39) |
D355A |
probably benign |
Het |
Focad |
T |
C |
4: 88,047,291 (GRCm39) |
|
probably null |
Het |
Ftsj3 |
G |
A |
11: 106,145,489 (GRCm39) |
P82S |
possibly damaging |
Het |
Grwd1 |
A |
T |
7: 45,476,667 (GRCm39) |
H307Q |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,134,307 (GRCm39) |
F289S |
probably damaging |
Het |
Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
Lcn3 |
T |
C |
2: 25,656,646 (GRCm39) |
F100S |
possibly damaging |
Het |
Lmnb1 |
T |
C |
18: 56,882,871 (GRCm39) |
F572S |
probably benign |
Het |
Mrps17 |
T |
A |
5: 129,793,860 (GRCm39) |
I18N |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,687,275 (GRCm39) |
V127I |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,349,640 (GRCm39) |
D10G |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,773 (GRCm39) |
V217A |
possibly damaging |
Het |
Or5g23 |
T |
A |
2: 85,438,574 (GRCm39) |
K227* |
probably null |
Het |
Pcdhb21 |
A |
G |
18: 37,648,299 (GRCm39) |
D476G |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,545,768 (GRCm39) |
Y56* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,174,961 (GRCm39) |
D86E |
probably damaging |
Het |
Plpp1 |
A |
G |
13: 112,993,433 (GRCm39) |
T122A |
probably benign |
Het |
Prkag3 |
A |
G |
1: 74,779,883 (GRCm39) |
I484T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,896,066 (GRCm39) |
I104F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,984,876 (GRCm39) |
S1540P |
probably damaging |
Het |
Pyroxd1 |
T |
G |
6: 142,300,457 (GRCm39) |
S196A |
probably benign |
Het |
Rbm42 |
G |
A |
7: 30,345,130 (GRCm39) |
P185S |
unknown |
Het |
Ror2 |
T |
A |
13: 53,265,200 (GRCm39) |
I619F |
probably damaging |
Het |
Slitrk4 |
T |
G |
X: 63,314,555 (GRCm39) |
E704A |
probably benign |
Het |
Sycp1 |
A |
G |
3: 102,772,430 (GRCm39) |
V626A |
probably benign |
Het |
Trmt44 |
T |
A |
5: 35,726,143 (GRCm39) |
K345* |
probably null |
Het |
Ugt1a6b |
T |
A |
1: 88,035,527 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
T |
A |
9: 120,970,897 (GRCm39) |
|
probably null |
Het |
Zfp618 |
G |
T |
4: 63,051,773 (GRCm39) |
K758N |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,261,534 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |