Incidental Mutation 'R1232:Cyp4a12b'
| ID |
152319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp4a12b
|
| Ensembl Gene |
ENSMUSG00000078597 |
| Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12B |
| Synonyms |
|
| MMRRC Submission |
039301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1232 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115268821-115296231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115289760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 209
(D209V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
| AlphaFold |
A2A974 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094887
AA Change: D209V
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: D209V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
39 |
N/A |
INTRINSIC |
|
Pfam:p450
|
51 |
503 |
1.9e-132 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,469,300 (GRCm39) |
L751M |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,796,989 (GRCm39) |
D525G |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,752 (GRCm39) |
Y1782C |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,287 (GRCm39) |
M93T |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,643,882 (GRCm39) |
V925A |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,461,227 (GRCm39) |
W296R |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,234,587 (GRCm39) |
I415T |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,720,219 (GRCm39) |
S513P |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,493,699 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
A |
G |
15: 76,587,382 (GRCm39) |
Q355R |
probably damaging |
Het |
| Mms22l |
C |
T |
4: 24,536,274 (GRCm39) |
T621I |
probably benign |
Het |
| Or8g54 |
G |
A |
9: 39,707,264 (GRCm39) |
V198I |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,828 (GRCm39) |
N169D |
probably benign |
Het |
| Rnls |
T |
G |
19: 33,180,046 (GRCm39) |
I135L |
probably benign |
Het |
| Sgsm1 |
G |
T |
5: 113,421,577 (GRCm39) |
C558* |
probably null |
Het |
| Spata31d1c |
T |
A |
13: 65,184,428 (GRCm39) |
C657S |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,168 (GRCm39) |
D230G |
probably benign |
Het |
| Zfp429 |
T |
C |
13: 67,538,751 (GRCm39) |
Y231C |
possibly damaging |
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 |
|
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 |
|
R3818: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'- AGCCTTCACAACATCTGATACAGGGA -3'
(R):5'- GCTATGACCCACAGACAGAGTGGTAA -3'
Sequencing Primer
(F):5'- GGAAATGAGTCTGTTCTACTTAGCAC -3'
(R):5'- TAGAAGATGGCTTCCCATTCAGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation