Incidental Mutation 'R3791:Cyp4a12b'
ID |
272521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a12b
|
Ensembl Gene |
ENSMUSG00000078597 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R3791 (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 G
at 115292167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 407
(I407V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
AlphaFold |
A2A974 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094887
AA Change: I407V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000092487 Gene: ENSMUSG00000078597 AA Change: I407V
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: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
Zfp266 |
A |
C |
9: 20,410,777 (GRCm39) |
Y467D |
probably damaging |
Het |
Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
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 |
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 |
|
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'- ACCTAGGCTTATGATTTTAGGCAAG -3'
(R):5'- ACCTGCAGTGTGAATACCAG -3'
Sequencing Primer
(F):5'- TTTAGGCAAGTAACTCACACTCAG -3'
(R):5'- TTCAGGGAAGGTAGGAGTCAAACTC -3'
|
Posted On |
2015-03-25 |