Incidental Mutation 'R6511:Cyp4a30b'
ID |
519905 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp4a30b
|
Ensembl Gene |
ENSMUSG00000084346 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 30b |
Synonyms |
Cyp4a30b-ps, OTTMUSG00000008626 |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
115309801-115328259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115313905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 162
(D162V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119958]
|
AlphaFold |
A0A087WS15 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116278
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119958
AA Change: D162V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140857 Gene: ENSMUSG00000084346 AA Change: D162V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
52 |
503 |
1.4e-119 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably damaging |
Het |
|
Other mutations in Cyp4a30b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03184:Cyp4a30b
|
APN |
4 |
115,316,216 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03233:Cyp4a30b
|
APN |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.08 |
sly
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.00 |
tricky
|
UTSW |
4 |
115,311,662 (GRCm39) |
nonsense |
probably null |
|
R1394:Cyp4a30b
|
UTSW |
4 |
115,328,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2870:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2870:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2871:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2871:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2872:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2872:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2873:Cyp4a30b
|
UTSW |
4 |
115,315,559 (GRCm39) |
missense |
possibly damaging |
0.64 |
R3818:Cyp4a30b
|
UTSW |
4 |
115,316,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R4052:Cyp4a30b
|
UTSW |
4 |
115,311,539 (GRCm39) |
missense |
probably benign |
0.00 |
R4684:Cyp4a30b
|
UTSW |
4 |
115,312,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5558:Cyp4a30b
|
UTSW |
4 |
115,316,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Cyp4a30b
|
UTSW |
4 |
115,316,588 (GRCm39) |
nonsense |
probably null |
|
R6242:Cyp4a30b
|
UTSW |
4 |
115,311,587 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6759:Cyp4a30b
|
UTSW |
4 |
115,318,571 (GRCm39) |
missense |
probably benign |
0.02 |
R7285:Cyp4a30b
|
UTSW |
4 |
115,313,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8154:Cyp4a30b
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.00 |
R8314:Cyp4a30b
|
UTSW |
4 |
115,315,535 (GRCm39) |
missense |
probably benign |
0.00 |
R8439:Cyp4a30b
|
UTSW |
4 |
115,314,972 (GRCm39) |
missense |
probably benign |
0.44 |
R8681:Cyp4a30b
|
UTSW |
4 |
115,314,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8735:Cyp4a30b
|
UTSW |
4 |
115,309,976 (GRCm39) |
nonsense |
probably null |
|
R8816:Cyp4a30b
|
UTSW |
4 |
115,309,834 (GRCm39) |
missense |
probably benign |
0.23 |
R8845:Cyp4a30b
|
UTSW |
4 |
115,315,493 (GRCm39) |
missense |
probably benign |
0.04 |
R8917:Cyp4a30b
|
UTSW |
4 |
115,311,662 (GRCm39) |
nonsense |
probably null |
|
R9622:Cyp4a30b
|
UTSW |
4 |
115,328,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R9672:Cyp4a30b
|
UTSW |
4 |
115,316,576 (GRCm39) |
missense |
probably benign |
0.16 |
R9792:Cyp4a30b
|
UTSW |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.01 |
R9793:Cyp4a30b
|
UTSW |
4 |
115,316,167 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Cyp4a30b
|
UTSW |
4 |
115,328,156 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAATTCTGCCTTCCTCAGAG -3'
(R):5'- TCATATGCACCTTGAGGGAGG -3'
Sequencing Primer
(F):5'- GTTCCTTCAAAATCATCCAAAGGGTC -3'
(R):5'- CACCTTGAGGGAGGAAGGATAG -3'
|
Posted On |
2018-06-06 |