Incidental Mutation 'R5105:Cyp4a12b'
ID |
401974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a12b
|
Ensembl Gene |
ENSMUSG00000078597 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 12B |
Synonyms |
|
MMRRC Submission |
042693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5105 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
115268821-115296231 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115290958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094887]
|
AlphaFold |
A2A974 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094887
AA Change: S329P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092487 Gene: ENSMUSG00000078597 AA Change: S329P
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,559,490 (GRCm39) |
V422A |
possibly damaging |
Het |
Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Stxbp5l |
C |
A |
16: 36,962,734 (GRCm39) |
V774F |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
Zfp184 |
A |
G |
13: 22,143,799 (GRCm39) |
T502A |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,017,551 (GRCm39) |
I1019V |
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 |
|
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 |
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 |
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'- TTGCCAGAGTGAGTGTATGAAAC -3'
(R):5'- GTCGTTCCTGAAATGAGGCC -3'
Sequencing Primer
(F):5'- CCAGATGAGAGACTTGCGACTTG -3'
(R):5'- CCATCTAAAAGTCACATAGAGCTGGG -3'
|
Posted On |
2016-07-22 |