Incidental Mutation 'IGL00335:Cyp2c70'
ID |
5660 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2c70
|
Ensembl Gene |
ENSMUSG00000060613 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 70 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
IGL00335
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
40141805-40175730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40156020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 177
(V177M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051846]
[ENSMUST00000165102]
[ENSMUST00000171604]
|
AlphaFold |
Q91W64 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051846
AA Change: V177M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000060584 Gene: ENSMUSG00000060613 AA Change: V177M
Domain | Start | End | E-Value | Type |
Pfam:p450
|
30 |
486 |
2.1e-158 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165102
AA Change: M72I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128691 Gene: ENSMUSG00000060613 AA Change: M72I
Domain | Start | End | E-Value | Type |
PDB:4GQS|D
|
25 |
54 |
4e-12 |
PDB |
SCOP:d1cpt__
|
26 |
54 |
7e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171604
|
SMART Domains |
Protein: ENSMUSP00000129063 Gene: ENSMUSG00000060613
Domain | Start | End | E-Value | Type |
PDB:4GQS|D
|
25 |
50 |
4e-10 |
PDB |
SCOP:d1cpt__
|
26 |
54 |
2e-7 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
Other mutations in Cyp2c70 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Cyp2c70
|
APN |
19 |
40,145,270 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01966:Cyp2c70
|
APN |
19 |
40,142,016 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4468001:Cyp2c70
|
UTSW |
19 |
40,153,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Cyp2c70
|
UTSW |
19 |
40,175,687 (GRCm39) |
missense |
probably null |
1.00 |
R0044:Cyp2c70
|
UTSW |
19 |
40,153,815 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0309:Cyp2c70
|
UTSW |
19 |
40,149,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1572:Cyp2c70
|
UTSW |
19 |
40,172,426 (GRCm39) |
missense |
probably benign |
0.21 |
R1650:Cyp2c70
|
UTSW |
19 |
40,153,921 (GRCm39) |
missense |
probably benign |
0.00 |
R1671:Cyp2c70
|
UTSW |
19 |
40,142,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Cyp2c70
|
UTSW |
19 |
40,152,856 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2163:Cyp2c70
|
UTSW |
19 |
40,149,163 (GRCm39) |
missense |
possibly damaging |
0.64 |
R3425:Cyp2c70
|
UTSW |
19 |
40,172,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R4299:Cyp2c70
|
UTSW |
19 |
40,172,372 (GRCm39) |
missense |
probably benign |
0.00 |
R5037:Cyp2c70
|
UTSW |
19 |
40,172,441 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5103:Cyp2c70
|
UTSW |
19 |
40,149,076 (GRCm39) |
missense |
probably damaging |
0.96 |
R6060:Cyp2c70
|
UTSW |
19 |
40,153,857 (GRCm39) |
nonsense |
probably null |
|
R6440:Cyp2c70
|
UTSW |
19 |
40,145,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6853:Cyp2c70
|
UTSW |
19 |
40,172,364 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6936:Cyp2c70
|
UTSW |
19 |
40,156,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R7098:Cyp2c70
|
UTSW |
19 |
40,168,931 (GRCm39) |
missense |
probably benign |
0.02 |
R8380:Cyp2c70
|
UTSW |
19 |
40,175,669 (GRCm39) |
missense |
probably benign |
0.03 |
R8419:Cyp2c70
|
UTSW |
19 |
40,149,024 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8555:Cyp2c70
|
UTSW |
19 |
40,172,345 (GRCm39) |
missense |
probably benign |
0.04 |
R8678:Cyp2c70
|
UTSW |
19 |
40,156,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8705:Cyp2c70
|
UTSW |
19 |
40,168,948 (GRCm39) |
missense |
probably benign |
0.29 |
R8968:Cyp2c70
|
UTSW |
19 |
40,142,059 (GRCm39) |
missense |
probably benign |
0.26 |
R9225:Cyp2c70
|
UTSW |
19 |
40,168,912 (GRCm39) |
missense |
probably damaging |
0.99 |
R9468:Cyp2c70
|
UTSW |
19 |
40,168,889 (GRCm39) |
missense |
probably damaging |
0.97 |
R9655:Cyp2c70
|
UTSW |
19 |
40,149,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2012-04-20 |