Incidental Mutation 'IGL03233:Cyp4a30b'
| ID |
413972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp4a30b
|
| Ensembl Gene |
ENSMUSG00000084346 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 30b |
| Synonyms |
Cyp4a30b-ps, OTTMUSG00000008626 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115309801-115328259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115316167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 298
(T298S)
|
| 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 benign
Transcript: ENSMUST00000119958
AA Change: T298S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140857
Gene: ENSMUSG00000084346
AA Change: T298S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
52 |
503 |
1.4e-119 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly damaging |
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 |
|
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 |
|
R3818:Cyp4a30b
|
UTSW |
4 |
115,316,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation