Incidental Mutation 'R3818:Cyp4a12b'
ID |
274774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a12b
|
Ensembl Gene |
ENSMUSG00000078597 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12B |
Synonyms |
|
MMRRC Submission |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R3818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115268821-115296231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115289667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 178
(D178V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
AlphaFold |
A2A974 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094887
AA Change: D178V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092487 Gene: ENSMUSG00000078597 AA Change: D178V
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
503 |
1.9e-132 |
PFAM |
|
Meta Mutation Damage Score |
0.5086 |
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 |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
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 Cyp4a12b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00850:Cyp4a12b
|
APN |
4 |
115,295,246 (GRCm39) |
splice site |
probably null |
|
IGL01571:Cyp4a12b
|
APN |
4 |
115,295,354 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02230:Cyp4a12b
|
APN |
4 |
115,291,193 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02720:Cyp4a12b
|
APN |
4 |
115,292,368 (GRCm39) |
splice site |
probably benign |
|
IGL03118:Cyp4a12b
|
APN |
4 |
115,290,173 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL03389:Cyp4a12b
|
APN |
4 |
115,291,005 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0360:Cyp4a12b
|
UTSW |
4 |
115,290,117 (GRCm39) |
missense |
probably benign |
0.01 |
R0364:Cyp4a12b
|
UTSW |
4 |
115,290,117 (GRCm39) |
missense |
probably benign |
0.01 |
R0844:Cyp4a12b
|
UTSW |
4 |
115,289,721 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1226:Cyp4a12b
|
UTSW |
4 |
115,290,164 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1232:Cyp4a12b
|
UTSW |
4 |
115,289,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1372:Cyp4a12b
|
UTSW |
4 |
115,290,146 (GRCm39) |
missense |
probably benign |
0.08 |
R1559:Cyp4a12b
|
UTSW |
4 |
115,291,181 (GRCm39) |
missense |
probably damaging |
0.98 |
R1782:Cyp4a12b
|
UTSW |
4 |
115,291,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Cyp4a12b
|
UTSW |
4 |
115,271,259 (GRCm39) |
splice site |
probably benign |
|
R1941:Cyp4a12b
|
UTSW |
4 |
115,295,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1978:Cyp4a12b
|
UTSW |
4 |
115,295,342 (GRCm39) |
missense |
probably benign |
0.01 |
R2063:Cyp4a12b
|
UTSW |
4 |
115,290,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2109:Cyp4a12b
|
UTSW |
4 |
115,290,110 (GRCm39) |
missense |
probably damaging |
0.97 |
R2911:Cyp4a12b
|
UTSW |
4 |
115,290,723 (GRCm39) |
nonsense |
probably null |
|
R3791:Cyp4a12b
|
UTSW |
4 |
115,292,167 (GRCm39) |
missense |
probably benign |
0.01 |
R3815:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
R3816:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
R3817:Cyp4a12b
|
UTSW |
4 |
115,289,667 (GRCm39) |
missense |
probably damaging |
0.98 |
R4586:Cyp4a12b
|
UTSW |
4 |
115,289,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Cyp4a12b
|
UTSW |
4 |
115,295,310 (GRCm39) |
missense |
probably benign |
0.39 |
R5105:Cyp4a12b
|
UTSW |
4 |
115,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R5354:Cyp4a12b
|
UTSW |
4 |
115,290,661 (GRCm39) |
splice site |
probably null |
|
R5655:Cyp4a12b
|
UTSW |
4 |
115,290,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R5814:Cyp4a12b
|
UTSW |
4 |
115,289,694 (GRCm39) |
missense |
probably damaging |
0.97 |
R5952:Cyp4a12b
|
UTSW |
4 |
115,271,714 (GRCm39) |
nonsense |
probably null |
|
R6004:Cyp4a12b
|
UTSW |
4 |
115,290,664 (GRCm39) |
missense |
probably benign |
0.35 |
R6059:Cyp4a12b
|
UTSW |
4 |
115,295,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6261:Cyp4a12b
|
UTSW |
4 |
115,271,740 (GRCm39) |
nonsense |
probably null |
|
R7484:Cyp4a12b
|
UTSW |
4 |
115,289,760 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7734:Cyp4a12b
|
UTSW |
4 |
115,268,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8545:Cyp4a12b
|
UTSW |
4 |
115,290,227 (GRCm39) |
missense |
probably benign |
0.23 |
R9031:Cyp4a12b
|
UTSW |
4 |
115,290,865 (GRCm39) |
missense |
probably benign |
0.00 |
R9497:Cyp4a12b
|
UTSW |
4 |
115,271,768 (GRCm39) |
missense |
probably benign |
0.36 |
RF045:Cyp4a12b
|
UTSW |
4 |
115,289,690 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAAGTTGACAATGAAAATCAGCC -3'
(R):5'- TCTGCAGTATATCTGAGACAGAATAG -3'
Sequencing Primer
(F):5'- CTTCACAACATCTGATACAGGGAGTC -3'
(R):5'- TCTGAGACAGAATAGAGAATCTTGTG -3'
|
Posted On |
2015-04-02 |