Incidental Mutation 'R0788:Cyp3a16'
ID |
76343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp3a16
|
Ensembl Gene |
ENSMUSG00000038656 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
Synonyms |
|
MMRRC Submission |
038968-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R0788 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145401886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 59
(K59E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
AlphaFold |
Q64481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031633
AA Change: K59E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031633 Gene: ENSMUSG00000038656 AA Change: K59E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.0%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,610,468 (GRCm39) |
Y380* |
probably null |
Het |
4931406B18Rik |
C |
A |
7: 43,148,623 (GRCm39) |
S196I |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 36,015,245 (GRCm39) |
S519P |
probably benign |
Het |
Adnp2 |
A |
C |
18: 80,173,219 (GRCm39) |
C397G |
probably benign |
Het |
Aldh1l2 |
A |
G |
10: 83,352,028 (GRCm39) |
S156P |
probably damaging |
Het |
Bcl2l15 |
G |
T |
3: 103,740,794 (GRCm39) |
|
probably null |
Het |
Brd9 |
T |
A |
13: 74,092,986 (GRCm39) |
|
probably benign |
Het |
Cars2 |
A |
C |
8: 11,579,672 (GRCm39) |
I262R |
possibly damaging |
Het |
Ccdc106 |
T |
C |
7: 5,060,533 (GRCm39) |
|
probably benign |
Het |
Cdh3 |
G |
A |
8: 107,268,047 (GRCm39) |
V361M |
probably benign |
Het |
Cdhr1 |
A |
C |
14: 36,809,332 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,225,468 (GRCm39) |
I559T |
possibly damaging |
Het |
Cdkn2aip |
T |
A |
8: 48,166,798 (GRCm39) |
Q3L |
possibly damaging |
Het |
Chd1 |
G |
T |
17: 15,927,376 (GRCm39) |
V10F |
possibly damaging |
Het |
Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
Col6a4 |
T |
C |
9: 105,949,197 (GRCm39) |
K813E |
probably benign |
Het |
Cttnbp2 |
G |
A |
6: 18,423,834 (GRCm39) |
T830I |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,854,588 (GRCm39) |
M23V |
probably null |
Het |
Dpysl5 |
G |
A |
5: 30,946,185 (GRCm39) |
|
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,719,847 (GRCm39) |
Y460N |
possibly damaging |
Het |
Ear6 |
T |
A |
14: 52,091,487 (GRCm39) |
C11* |
probably null |
Het |
Fat1 |
C |
T |
8: 45,477,020 (GRCm39) |
T1999M |
probably benign |
Het |
Gsdmd |
T |
A |
15: 75,736,103 (GRCm39) |
C77* |
probably null |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Kif28 |
A |
T |
1: 179,532,788 (GRCm39) |
|
probably benign |
Het |
Krt6b |
A |
G |
15: 101,585,954 (GRCm39) |
I373T |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,288,902 (GRCm39) |
T509A |
probably damaging |
Het |
Mapkbp1 |
C |
T |
2: 119,854,482 (GRCm39) |
P1354S |
probably benign |
Het |
Nat10 |
A |
G |
2: 103,573,460 (GRCm39) |
S346P |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,237,113 (GRCm39) |
|
probably benign |
Het |
Necap1 |
C |
T |
6: 122,858,495 (GRCm39) |
R113W |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,092,035 (GRCm39) |
Y261N |
possibly damaging |
Het |
Orc4 |
A |
T |
2: 48,827,479 (GRCm39) |
V38E |
possibly damaging |
Het |
Per1 |
G |
A |
11: 68,992,185 (GRCm39) |
|
probably benign |
Het |
Polb |
T |
C |
8: 23,132,354 (GRCm39) |
D130G |
probably null |
Het |
Ppcs |
T |
C |
4: 119,279,375 (GRCm39) |
N59S |
probably damaging |
Het |
Ppp2ca |
A |
G |
11: 52,003,969 (GRCm39) |
E42G |
possibly damaging |
Het |
Ptprf |
T |
C |
4: 118,083,663 (GRCm39) |
T807A |
probably damaging |
Het |
Rapgef2 |
A |
C |
3: 79,006,502 (GRCm39) |
F284V |
possibly damaging |
Het |
Sestd1 |
A |
T |
2: 77,022,060 (GRCm39) |
F544I |
probably damaging |
Het |
Slfn3 |
G |
A |
11: 83,103,662 (GRCm39) |
G178S |
possibly damaging |
Het |
Supt6 |
G |
A |
11: 78,098,598 (GRCm39) |
|
probably benign |
Het |
Tas2r109 |
T |
A |
6: 132,957,264 (GRCm39) |
Q222L |
probably benign |
Het |
Tekt4 |
A |
C |
17: 25,691,021 (GRCm39) |
D109A |
probably damaging |
Het |
Tob2 |
C |
A |
15: 81,735,903 (GRCm39) |
R22L |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,653,282 (GRCm39) |
E178D |
possibly damaging |
Het |
Ube2u |
C |
A |
4: 100,371,937 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,332,812 (GRCm39) |
|
probably benign |
Het |
Vstm2a |
T |
C |
11: 16,209,968 (GRCm39) |
F65L |
probably damaging |
Het |
Zfp57 |
A |
G |
17: 37,317,092 (GRCm39) |
|
probably benign |
Het |
Znrf3 |
G |
T |
11: 5,231,320 (GRCm39) |
P731Q |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACCCTGGCAGTCAATAGGAGG -3'
(R):5'- AAGCTCACACCCAGAGGTTGAATG -3'
Sequencing Primer
(F):5'- AGTCAATAGGAGGCATTATCACC -3'
(R):5'- TGACACAATGCCAGGGTG -3'
|
Posted On |
2013-10-16 |