Incidental Mutation 'R5365:Cyp3a16'
| ID |
423078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a16
|
| Ensembl Gene |
ENSMUSG00000038656 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
| Synonyms |
|
| MMRRC Submission |
042943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R5365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 145389597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 256
(M256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
| AlphaFold |
Q64481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031633
AA Change: M256R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: M256R
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
| Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
| Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
| Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
| Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
| Lrit1 |
A |
G |
14: 36,784,099 (GRCm39) |
T476A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
| Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
| Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
| Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
| Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAAACTCCAACTTCTCCTCCATGAG -3'
(R):5'- CCCAGTGTGAGCAAGTTCAC -3'
Sequencing Primer
(F):5'- CACAGCCTACATGTTCAC -3'
(R):5'- TTCACAGAGAGAGTGACTTCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation