Incidental Mutation 'R3084:Cyp2c38'
ID |
265552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c38
|
Ensembl Gene |
ENSMUSG00000032808 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 38 |
Synonyms |
|
MMRRC Submission |
040573-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R3084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39379109-39451519 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39390145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 352
(I352V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035488]
|
AlphaFold |
P56655 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035488
AA Change: I352V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000044722 Gene: ENSMUSG00000032808 AA Change: I352V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1.5e-161 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,285,037 (GRCm39) |
V431A |
probably benign |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,946,782 (GRCm39) |
E1099G |
probably damaging |
Het |
Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
Fhip1a |
T |
A |
3: 85,573,275 (GRCm39) |
|
probably null |
Het |
Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm5699 |
G |
T |
1: 31,037,873 (GRCm39) |
|
noncoding transcript |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Ifit3 |
A |
T |
19: 34,564,640 (GRCm39) |
H62L |
probably damaging |
Het |
Krt34 |
T |
C |
11: 99,931,847 (GRCm39) |
N124S |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,156,911 (GRCm39) |
R129C |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
Pomt1 |
G |
T |
2: 32,134,252 (GRCm39) |
V258L |
probably benign |
Het |
Ppp2r5e |
T |
C |
12: 75,515,390 (GRCm39) |
I215V |
probably benign |
Het |
Ranbp10 |
A |
T |
8: 106,501,263 (GRCm39) |
L329Q |
probably damaging |
Het |
Robo1 |
T |
A |
16: 72,801,625 (GRCm39) |
L1083Q |
probably benign |
Het |
Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
Svop |
T |
C |
5: 114,180,299 (GRCm39) |
T283A |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,855,580 (GRCm39) |
G872R |
possibly damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,768 (GRCm39) |
V199A |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,331 (GRCm39) |
I126M |
possibly damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,204,454 (GRCm39) |
N454S |
probably benign |
Het |
Xirp2 |
T |
G |
2: 67,339,393 (GRCm39) |
F545V |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cyp2c38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Cyp2c38
|
APN |
19 |
39,449,169 (GRCm39) |
nonsense |
probably null |
|
IGL01109:Cyp2c38
|
APN |
19 |
39,451,329 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01521:Cyp2c38
|
APN |
19 |
39,449,114 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02036:Cyp2c38
|
APN |
19 |
39,448,760 (GRCm39) |
missense |
probably null |
0.97 |
IGL02187:Cyp2c38
|
APN |
19 |
39,424,649 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02954:Cyp2c38
|
APN |
19 |
39,379,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R0479:Cyp2c38
|
UTSW |
19 |
39,451,449 (GRCm39) |
missense |
probably damaging |
0.99 |
R0684:Cyp2c38
|
UTSW |
19 |
39,379,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R0919:Cyp2c38
|
UTSW |
19 |
39,393,113 (GRCm39) |
missense |
probably benign |
0.07 |
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R1642:Cyp2c38
|
UTSW |
19 |
39,390,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R1715:Cyp2c38
|
UTSW |
19 |
39,393,239 (GRCm39) |
missense |
probably benign |
0.25 |
R1900:Cyp2c38
|
UTSW |
19 |
39,426,756 (GRCm39) |
missense |
probably benign |
0.40 |
R1954:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1955:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R2860:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R2861:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R2862:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R3727:Cyp2c38
|
UTSW |
19 |
39,380,739 (GRCm39) |
splice site |
probably benign |
|
R4648:Cyp2c38
|
UTSW |
19 |
39,449,132 (GRCm39) |
missense |
probably benign |
0.05 |
R5119:Cyp2c38
|
UTSW |
19 |
39,449,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5636:Cyp2c38
|
UTSW |
19 |
39,426,750 (GRCm39) |
nonsense |
probably null |
|
R5651:Cyp2c38
|
UTSW |
19 |
39,449,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R6263:Cyp2c38
|
UTSW |
19 |
39,380,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6384:Cyp2c38
|
UTSW |
19 |
39,380,737 (GRCm39) |
splice site |
probably null |
|
R6853:Cyp2c38
|
UTSW |
19 |
39,426,748 (GRCm39) |
missense |
probably benign |
0.02 |
R6915:Cyp2c38
|
UTSW |
19 |
39,424,512 (GRCm39) |
missense |
probably damaging |
0.99 |
R7201:Cyp2c38
|
UTSW |
19 |
39,390,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Cyp2c38
|
UTSW |
19 |
39,393,187 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7625:Cyp2c38
|
UTSW |
19 |
39,451,368 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7666:Cyp2c38
|
UTSW |
19 |
39,426,686 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8681:Cyp2c38
|
UTSW |
19 |
39,390,135 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCTGCCCTCTGAACCATAAAGC -3'
(R):5'- CTTATATTGCGTTGTGTATAGCCTGAC -3'
Sequencing Primer
(F):5'- CCTGTACCACAATGTATATCAGAGG -3'
(R):5'- CGTTGTGTATAGCCTGACATTGTAAC -3'
|
Posted On |
2015-02-05 |