Incidental Mutation 'IGL03118:Cyp4a12b'
ID |
409852 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03118
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
115268821-115296231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115290173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Isoleucine
at position 242
(R242I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
AlphaFold |
A2A974 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094887
AA Change: R242I
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000092487 Gene: ENSMUSG00000078597 AA Change: R242I
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
Bpifb5 |
C |
T |
2: 154,078,673 (GRCm39) |
|
probably benign |
Het |
Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
Il17rd |
A |
G |
14: 26,815,352 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
Pold1 |
T |
A |
7: 44,188,824 (GRCm39) |
I447F |
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
Ptbp3 |
G |
A |
4: 59,501,470 (GRCm39) |
A149V |
probably benign |
Het |
Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
Septin3 |
G |
A |
15: 82,168,715 (GRCm39) |
|
probably null |
Het |
Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
Zfp865 |
T |
C |
7: 5,037,644 (GRCm39) |
|
probably benign |
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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |