Incidental Mutation 'R6401:Cyp3a16'
| ID |
516160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a16
|
| Ensembl Gene |
ENSMUSG00000038656 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
| Synonyms |
|
| MMRRC Submission |
044548-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R6401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145377174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 471
(E471G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
| AlphaFold |
Q64481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031633
AA Change: E471G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: E471G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
38 |
494 |
5.5e-132 |
PFAM |
|
| Meta Mutation Damage Score |
0.3953 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
93% (41/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
T |
A |
2: 110,605,459 (GRCm39) |
N249I |
probably benign |
Het |
| Ap3s1 |
A |
C |
18: 46,891,074 (GRCm39) |
I56L |
probably benign |
Het |
| Ccn5 |
T |
C |
2: 163,670,946 (GRCm39) |
I151T |
probably benign |
Het |
| Cngb1 |
A |
G |
8: 96,030,367 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,883,773 (GRCm39) |
T570A |
unknown |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,762 (GRCm39) |
N14D |
possibly damaging |
Het |
| Ext1 |
T |
C |
15: 52,969,493 (GRCm39) |
E365G |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,188,370 (GRCm39) |
V1490F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,269 (GRCm39) |
M370T |
probably damaging |
Het |
| Ighv2-4 |
G |
T |
12: 113,617,082 (GRCm39) |
P60Q |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,442,698 (GRCm39) |
T80S |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,299,291 (GRCm39) |
L111Q |
probably benign |
Het |
| Mcmbp |
G |
T |
7: 128,308,783 (GRCm39) |
L413I |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,802 (GRCm39) |
M721K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,584,809 (GRCm39) |
T738A |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,377,597 (GRCm39) |
I160L |
probably benign |
Het |
| Nrxn3 |
C |
A |
12: 89,221,770 (GRCm39) |
N516K |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,250 (GRCm39) |
Y496H |
probably benign |
Het |
| Or13f5 |
A |
C |
4: 52,826,242 (GRCm39) |
T282P |
probably damaging |
Het |
| Or1n1 |
A |
T |
2: 36,750,177 (GRCm39) |
L61* |
probably null |
Het |
| Or5b111 |
T |
C |
19: 13,290,878 (GRCm39) |
Y257C |
probably damaging |
Het |
| Polm |
A |
T |
11: 5,779,491 (GRCm39) |
W436R |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,951 (GRCm39) |
I1221N |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,696,941 (GRCm39) |
H220R |
possibly damaging |
Het |
| Rgs12 |
T |
C |
5: 35,177,676 (GRCm39) |
F79L |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,595 (GRCm39) |
D111G |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,715,887 (GRCm39) |
|
probably null |
Het |
| Spata22 |
T |
C |
11: 73,224,180 (GRCm39) |
S34P |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,855,317 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
G |
6: 49,400,372 (GRCm39) |
E399G |
probably damaging |
Het |
| Tcp10b |
C |
A |
17: 13,292,466 (GRCm39) |
N296K |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,866 (GRCm39) |
Y645C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,206 (GRCm39) |
M334K |
probably benign |
Het |
| Vcpkmt |
C |
A |
12: 69,629,619 (GRCm39) |
V48F |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,532 (GRCm39) |
Y403* |
probably null |
Het |
| Vwa7 |
G |
A |
17: 35,236,286 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
A |
T |
5: 113,726,206 (GRCm39) |
*572C |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,919,787 (GRCm39) |
L676P |
probably damaging |
Het |
| Zbtb32 |
A |
C |
7: 30,291,244 (GRCm39) |
L17W |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTACTCTGACTCTTCATAATGC -3'
(R):5'- TTCACATGTGCAGCTCTTATGC -3'
Sequencing Primer
(F):5'- TCTGACTCTTCATAATGCTAAGTTTC -3'
(R):5'- ACATGTGCAGCTCTTATGCTTTTATC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation