Incidental Mutation 'R3818:Cyp4a30b'
| ID |
473913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a30b
|
| Ensembl Gene |
ENSMUSG00000084346 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 30b |
| Synonyms |
Cyp4a30b-ps, OTTMUSG00000008626 |
| MMRRC Submission |
040772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3818 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115309801-115328259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115316206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 311
(A311S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119958]
|
| AlphaFold |
A0A087WS15 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116278
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119958
AA Change: A311S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140857
Gene: ENSMUSG00000084346
AA Change: A311S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
503 |
1.4e-119 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
| Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
| Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
| Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
| Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
| Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Cyp4a30b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03184:Cyp4a30b
|
APN |
4 |
115,316,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03233:Cyp4a30b
|
APN |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.08 |
|
sly
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
tricky
|
UTSW |
4 |
115,311,662 (GRCm39) |
nonsense |
probably null |
|
|
R1394:Cyp4a30b
|
UTSW |
4 |
115,328,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2870:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2870:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2871:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2871:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2872:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2872:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2873:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4052:Cyp4a30b
|
UTSW |
4 |
115,311,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4684:Cyp4a30b
|
UTSW |
4 |
115,312,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Cyp4a30b
|
UTSW |
4 |
115,316,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Cyp4a30b
|
UTSW |
4 |
115,316,588 (GRCm39) |
nonsense |
probably null |
|
|
R6242:Cyp4a30b
|
UTSW |
4 |
115,311,587 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6511:Cyp4a30b
|
UTSW |
4 |
115,313,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Cyp4a30b
|
UTSW |
4 |
115,318,571 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7285:Cyp4a30b
|
UTSW |
4 |
115,313,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Cyp4a30b
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Cyp4a30b
|
UTSW |
4 |
115,315,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8439:Cyp4a30b
|
UTSW |
4 |
115,314,972 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8681:Cyp4a30b
|
UTSW |
4 |
115,314,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8735:Cyp4a30b
|
UTSW |
4 |
115,309,976 (GRCm39) |
nonsense |
probably null |
|
|
R8816:Cyp4a30b
|
UTSW |
4 |
115,309,834 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8845:Cyp4a30b
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8917:Cyp4a30b
|
UTSW |
4 |
115,311,662 (GRCm39) |
nonsense |
probably null |
|
|
R9622:Cyp4a30b
|
UTSW |
4 |
115,328,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Cyp4a30b
|
UTSW |
4 |
115,316,576 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9792:Cyp4a30b
|
UTSW |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9793:Cyp4a30b
|
UTSW |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Cyp4a30b
|
UTSW |
4 |
115,328,156 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation