Incidental Mutation 'R5761:Cyp3a16'
| ID |
445294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp3a16
|
| Ensembl Gene |
ENSMUSG00000038656 |
| Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 16 |
| Synonyms |
|
| MMRRC Submission |
043363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R5761 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145373119-145406533 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145378843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 393
(S393P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031633]
|
| AlphaFold |
Q64481 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031633
AA Change: S393P
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: S393P
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,100,927 (GRCm39) |
V953D |
probably damaging |
Het |
| Abcb8 |
T |
C |
5: 24,610,879 (GRCm39) |
|
probably benign |
Het |
| Acad12 |
A |
T |
5: 121,742,243 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,283,595 (GRCm39) |
C436S |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,569,943 (GRCm39) |
|
probably benign |
Het |
| Akap8 |
A |
T |
17: 32,536,159 (GRCm39) |
C85S |
possibly damaging |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,927 (GRCm39) |
R19L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,955,559 (GRCm39) |
T848A |
possibly damaging |
Het |
| Bud13 |
C |
T |
9: 46,199,350 (GRCm39) |
A237V |
probably benign |
Het |
| Cbarp |
CGCCTCTGCTGCCTCT |
CGCCTCT |
10: 79,968,067 (GRCm39) |
|
probably benign |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccz1 |
C |
T |
5: 143,929,328 (GRCm39) |
G367R |
probably damaging |
Het |
| Cep104 |
T |
C |
4: 154,065,681 (GRCm39) |
V56A |
possibly damaging |
Het |
| Chd6 |
C |
A |
2: 160,798,998 (GRCm39) |
R2362S |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,798,999 (GRCm39) |
R2362K |
probably damaging |
Het |
| Cmc1 |
T |
C |
9: 117,944,443 (GRCm39) |
E25G |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,374,619 (GRCm39) |
S1123P |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,778 (GRCm39) |
L66* |
probably null |
Het |
| Crmp1 |
A |
G |
5: 37,440,212 (GRCm39) |
T329A |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp4f18 |
T |
A |
8: 72,749,975 (GRCm39) |
I225F |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,231,726 (GRCm39) |
V432A |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,853,131 (GRCm39) |
I401M |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,314 (GRCm39) |
A139T |
probably damaging |
Het |
| Gm10428 |
G |
T |
11: 62,644,169 (GRCm39) |
|
probably benign |
Het |
| Gpr89 |
A |
G |
3: 96,800,196 (GRCm39) |
L134P |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,938 (GRCm39) |
S399P |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,986,025 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Igf2r |
A |
C |
17: 12,917,239 (GRCm39) |
|
probably null |
Het |
| Itga2b |
A |
G |
11: 102,357,100 (GRCm39) |
F260S |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,098,672 (GRCm39) |
N698I |
probably benign |
Het |
| Lap3 |
A |
C |
5: 45,662,147 (GRCm39) |
I316L |
probably benign |
Het |
| Map2k6 |
T |
G |
11: 110,290,197 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
T |
A |
13: 113,054,196 (GRCm39) |
I146F |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,110,078 (GRCm39) |
E1422G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,250,061 (GRCm39) |
V1081A |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,642,639 (GRCm39) |
E380G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,882,573 (GRCm39) |
Y75F |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or51a24 |
G |
A |
7: 103,733,376 (GRCm39) |
R304W |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,866,301 (GRCm39) |
V518A |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,279 (GRCm39) |
M521V |
probably benign |
Het |
| Qsox1 |
T |
A |
1: 155,655,274 (GRCm39) |
M630L |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,648,032 (GRCm39) |
L299P |
probably damaging |
Het |
| St6gal1 |
T |
G |
16: 23,139,805 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,984,283 (GRCm39) |
Y149C |
probably damaging |
Het |
| Tlr3 |
G |
A |
8: 45,855,808 (GRCm39) |
T124M |
probably benign |
Het |
| Tmem171 |
A |
G |
13: 98,829,019 (GRCm39) |
Y44H |
probably damaging |
Het |
| Usp35 |
C |
T |
7: 96,961,558 (GRCm39) |
V623I |
probably benign |
Het |
| Vangl2 |
T |
A |
1: 171,833,694 (GRCm39) |
H463L |
probably damaging |
Het |
| Vmn1r175 |
A |
C |
7: 23,507,905 (GRCm39) |
L241V |
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,338 (GRCm39) |
K297I |
unknown |
Het |
| Vmn2r23 |
C |
A |
6: 123,689,718 (GRCm39) |
T198K |
probably benign |
Het |
| Vmn2r-ps69 |
T |
A |
7: 84,953,223 (GRCm39) |
|
noncoding transcript |
Het |
| Xirp2 |
A |
G |
2: 67,341,311 (GRCm39) |
Y1184C |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,983,810 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
T |
10: 127,578,515 (GRCm39) |
A363V |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,651,728 (GRCm39) |
I527K |
possibly damaging |
Het |
| Zmiz1 |
C |
A |
14: 25,651,730 (GRCm39) |
P534T |
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 |
|
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'- CTTGCCTCATAATTAAGTGGGTC -3'
(R):5'- TGGGGATGCTGAGAACTCAAC -3'
Sequencing Primer
(F):5'- CTCCTCACACAATGCAAATGTTTG -3'
(R):5'- GGATGCTGAGAACTCAACACTAGAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation