Incidental Mutation 'R1339:Cyp4a32'
| ID |
156955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a32
|
| Ensembl Gene |
ENSMUSG00000063929 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 32 |
| Synonyms |
OTTMUSG00000008689 |
| MMRRC Submission |
039404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R1339 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115458166-115478799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115468760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 382
(Y382C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084342]
|
| AlphaFold |
A2A8T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084342
AA Change: Y382C
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081369
Gene: ENSMUSG00000063929
AA Change: Y382C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
504 |
1.3e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129918
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
| Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,866 (GRCm39) |
T255A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,510 (GRCm39) |
V169L |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,843,617 (GRCm39) |
R320C |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
| Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
| Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
| Or6k8-ps1 |
G |
T |
1: 173,979,777 (GRCm39) |
G232C |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
| Shc2 |
T |
G |
10: 79,462,250 (GRCm39) |
T298P |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably damaging |
Het |
|
| Other mutations in Cyp4a32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02225:Cyp4a32
|
APN |
4 |
115,467,700 (GRCm39) |
missense |
probably benign |
|
|
IGL02546:Cyp4a32
|
APN |
4 |
115,468,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02578:Cyp4a32
|
APN |
4 |
115,466,939 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02663:Cyp4a32
|
APN |
4 |
115,467,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02832:Cyp4a32
|
APN |
4 |
115,471,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03283:Cyp4a32
|
APN |
4 |
115,468,280 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03357:Cyp4a32
|
APN |
4 |
115,468,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03406:Cyp4a32
|
APN |
4 |
115,459,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0379:Cyp4a32
|
UTSW |
4 |
115,478,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Cyp4a32
|
UTSW |
4 |
115,463,863 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1445:Cyp4a32
|
UTSW |
4 |
115,460,147 (GRCm39) |
nonsense |
probably null |
|
|
R1520:Cyp4a32
|
UTSW |
4 |
115,471,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1587:Cyp4a32
|
UTSW |
4 |
115,467,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1719:Cyp4a32
|
UTSW |
4 |
115,468,505 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1932:Cyp4a32
|
UTSW |
4 |
115,468,474 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4184:Cyp4a32
|
UTSW |
4 |
115,478,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4580:Cyp4a32
|
UTSW |
4 |
115,460,126 (GRCm39) |
splice site |
silent |
|
|
R5004:Cyp4a32
|
UTSW |
4 |
115,458,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6345:Cyp4a32
|
UTSW |
4 |
115,459,560 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7231:Cyp4a32
|
UTSW |
4 |
115,466,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Cyp4a32
|
UTSW |
4 |
115,459,499 (GRCm39) |
missense |
probably benign |
|
|
R7419:Cyp4a32
|
UTSW |
4 |
115,468,234 (GRCm39) |
missense |
probably benign |
|
|
R7716:Cyp4a32
|
UTSW |
4 |
115,458,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Cyp4a32
|
UTSW |
4 |
115,468,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9009:Cyp4a32
|
UTSW |
4 |
115,467,802 (GRCm39) |
missense |
probably null |
1.00 |
|
R9266:Cyp4a32
|
UTSW |
4 |
115,468,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Cyp4a32
|
UTSW |
4 |
115,478,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Cyp4a32
|
UTSW |
4 |
115,467,699 (GRCm39) |
missense |
probably benign |
|
|
R9442:Cyp4a32
|
UTSW |
4 |
115,468,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1177:Cyp4a32
|
UTSW |
4 |
115,468,542 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGTGGACACATTCATGTTCGAGG -3'
(R):5'- CACTCAGAGATTCAGAACTGGTGAAGG -3'
Sequencing Primer
(F):5'- ATGTTCGAGGGCCATGACAC -3'
(R):5'- GTGAAGGACATAGACTACTGACCATC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation