Incidental Mutation 'R8405:Cyp2t4'
ID |
652348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2t4
|
Ensembl Gene |
ENSMUSG00000078787 |
Gene Name |
cytochrome P450, family 2, subfamily t, polypeptide 4 |
Synonyms |
LOC384724 |
MMRRC Submission |
067879-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R8405 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26853139-26857989 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 26856894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126779
(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
|
SMART Domains |
Protein: ENSMUSP00000104022 Gene: ENSMUSG00000078787
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
35 |
492 |
5.3e-130 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000164093
|
SMART Domains |
Protein: ENSMUSP00000126779 Gene: ENSMUSG00000078787
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
43 |
500 |
2.6e-130 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
Pgm5 |
T |
A |
19: 24,705,106 (GRCm39) |
H469L |
probably benign |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
Rgl2 |
C |
T |
17: 34,152,698 (GRCm39) |
Q408* |
probably null |
Het |
Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
Stag3 |
A |
C |
5: 138,302,914 (GRCm39) |
T1064P |
probably damaging |
Het |
Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
Trim26 |
A |
G |
17: 37,167,095 (GRCm39) |
D262G |
possibly damaging |
Het |
Trim30a |
A |
T |
7: 104,060,749 (GRCm39) |
Y342* |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably damaging |
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 |
IGL00706:Cyp2t4
|
APN |
7 |
26,854,583 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAGAGCTCCGACTCTTC -3'
(R):5'- TTTACTGAGATCCCACCCCAGC -3'
Sequencing Primer
(F):5'- CATCTCTGAGCAAATTCAGTGGC -3'
(R):5'- CCTCTCTTCACTTAGGGGGAG -3'
|
Posted On |
2020-10-20 |