Incidental Mutation 'IGL00706:Cyp2t4'
ID |
10002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2t4
|
Ensembl Gene |
ENSMUSG00000078787 |
Gene Name |
cytochrome P450, family 2, subfamily t, polypeptide 4 |
Synonyms |
LOC384724 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL00706
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26853139-26857989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26854583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 13
(I13T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080058]
[ENSMUST00000108382]
[ENSMUST00000108385]
[ENSMUST00000164093]
|
AlphaFold |
E9PWV0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080058
|
SMART Domains |
Protein: ENSMUSP00000078966 Gene: ENSMUSG00000058709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
Blast:P4Hc
|
75 |
136 |
3e-14 |
BLAST |
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
P4Hc
|
201 |
387 |
9.71e-44 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108382
|
SMART Domains |
Protein: ENSMUSP00000104019 Gene: ENSMUSG00000058709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
low complexity region
|
64 |
73 |
N/A |
INTRINSIC |
Blast:P4Hc
|
75 |
136 |
3e-14 |
BLAST |
low complexity region
|
154 |
174 |
N/A |
INTRINSIC |
P4Hc
|
201 |
387 |
9.71e-44 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108385
AA Change: I13T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000104022 Gene: ENSMUSG00000078787 AA Change: I13T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
35 |
492 |
5.3e-130 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164093
AA Change: I21T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126779 Gene: ENSMUSG00000078787 AA Change: I21T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
43 |
500 |
2.6e-130 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
A |
19: 8,991,094 (GRCm39) |
S4126* |
probably null |
Het |
Arhgap26 |
T |
A |
18: 39,419,604 (GRCm39) |
N521K |
probably damaging |
Het |
Bard1 |
C |
T |
1: 71,070,585 (GRCm39) |
R633H |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,180,910 (GRCm39) |
V762I |
probably benign |
Het |
Cyp2e1 |
T |
C |
7: 140,349,066 (GRCm39) |
I132T |
probably benign |
Het |
Dhx36 |
A |
T |
3: 62,404,263 (GRCm39) |
C227S |
probably damaging |
Het |
Fetub |
A |
G |
16: 22,754,446 (GRCm39) |
T138A |
probably benign |
Het |
Gab3 |
C |
T |
X: 74,048,965 (GRCm39) |
S362N |
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,751,584 (GRCm39) |
L501P |
probably damaging |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,282 (GRCm39) |
T445S |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,383,597 (GRCm39) |
D779E |
possibly damaging |
Het |
Ms4a5 |
C |
T |
19: 11,261,142 (GRCm39) |
V6I |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,888,535 (GRCm39) |
F425S |
probably damaging |
Het |
Rnf6 |
T |
C |
5: 146,148,715 (GRCm39) |
D112G |
possibly damaging |
Het |
Spink12 |
G |
A |
18: 44,240,872 (GRCm39) |
C86Y |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,928,121 (GRCm39) |
E497G |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,055,416 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cyp2t4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Cyp2t4
|
APN |
7 |
26,854,723 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02926:Cyp2t4
|
APN |
7 |
26,857,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R0560:Cyp2t4
|
UTSW |
7 |
26,857,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R0632:Cyp2t4
|
UTSW |
7 |
26,857,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0788:Cyp2t4
|
UTSW |
7 |
26,854,588 (GRCm39) |
missense |
probably null |
|
R1353:Cyp2t4
|
UTSW |
7 |
26,856,055 (GRCm39) |
missense |
probably benign |
0.03 |
R1652:Cyp2t4
|
UTSW |
7 |
26,856,815 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1838:Cyp2t4
|
UTSW |
7 |
26,857,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1997:Cyp2t4
|
UTSW |
7 |
26,857,038 (GRCm39) |
critical splice donor site |
probably null |
|
R2136:Cyp2t4
|
UTSW |
7 |
26,857,585 (GRCm39) |
missense |
probably benign |
0.32 |
R2963:Cyp2t4
|
UTSW |
7 |
26,854,699 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6239:Cyp2t4
|
UTSW |
7 |
26,856,900 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6634:Cyp2t4
|
UTSW |
7 |
26,855,213 (GRCm39) |
nonsense |
probably null |
|
R7251:Cyp2t4
|
UTSW |
7 |
26,857,144 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7348:Cyp2t4
|
UTSW |
7 |
26,856,676 (GRCm39) |
missense |
probably benign |
0.01 |
R7436:Cyp2t4
|
UTSW |
7 |
26,857,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8350:Cyp2t4
|
UTSW |
7 |
26,856,806 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8352:Cyp2t4
|
UTSW |
7 |
26,857,162 (GRCm39) |
missense |
probably benign |
0.04 |
R8405:Cyp2t4
|
UTSW |
7 |
26,856,894 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8450:Cyp2t4
|
UTSW |
7 |
26,856,806 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8452:Cyp2t4
|
UTSW |
7 |
26,857,162 (GRCm39) |
missense |
probably benign |
0.04 |
R9366:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9370:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9447:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9451:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9495:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9496:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9497:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9499:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9500:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9516:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9553:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9554:Cyp2t4
|
UTSW |
7 |
26,854,717 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9682:Cyp2t4
|
UTSW |
7 |
26,857,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Cyp2t4
|
UTSW |
7 |
26,854,657 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Cyp2t4
|
UTSW |
7 |
26,857,171 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cyp2t4
|
UTSW |
7 |
26,857,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |