Incidental Mutation 'R1580:Cyp3a16'
ID |
171343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a16
|
Ensembl Gene |
ENSMUSG00000038656 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
Synonyms |
|
MMRRC Submission |
039617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R1580 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145378884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 379
(K379I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
AlphaFold |
Q64481 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031633
AA Change: K379I
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031633 Gene: ENSMUSG00000038656 AA Change: K379I
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 |
0.3279 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCATTCTCCTCACACAATGCAAATGT -3'
(R):5'- GGATGCTGAGAACTCAACACTAGACAC -3'
Sequencing Primer
(F):5'- TGAGAGACATCATAGTATCCACAG -3'
(R):5'- ACCGTGATGGCGATGGAATA -3'
|
Posted On |
2014-04-13 |