Incidental Mutation 'R8452:Cyp2t4'
| ID |
654805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2t4
|
| Ensembl Gene |
ENSMUSG00000078787 |
| Gene Name |
cytochrome P450, family 2, subfamily t, polypeptide 4 |
| Synonyms |
LOC384724 |
| MMRRC Submission |
067903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R8452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26853139-26857989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26857162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 342
(A342T)
|
| 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
AA Change: A334T
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: A334T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
35 |
492 |
5.3e-130 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164093
AA Change: A342T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: A342T
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Actl7b |
T |
A |
4: 56,740,251 (GRCm39) |
D369V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,804 (GRCm39) |
D900G |
possibly damaging |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,377 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cdkal1 |
G |
A |
13: 29,538,663 (GRCm39) |
P499S |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpp |
A |
G |
13: 49,683,887 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Cox8b |
T |
A |
7: 140,478,929 (GRCm39) |
E62V |
probably null |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,997 (GRCm39) |
Y112H |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,241,261 (GRCm39) |
A212D |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,466,986 (GRCm39) |
E3626G |
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,720 (GRCm39) |
E449G |
possibly damaging |
Het |
| Fam187a |
C |
A |
11: 102,777,400 (GRCm39) |
C401* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,814,937 (GRCm39) |
I3557L |
probably benign |
Het |
| Gm30083 |
C |
T |
14: 33,712,279 (GRCm39) |
|
probably null |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| H2bc7 |
A |
G |
13: 23,758,219 (GRCm39) |
V49A |
probably damaging |
Het |
| Ifi213 |
T |
C |
1: 173,422,835 (GRCm39) |
K10R |
possibly damaging |
Het |
| Morc2b |
T |
C |
17: 33,356,476 (GRCm39) |
D432G |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,425 (GRCm39) |
I59F |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,818,374 (GRCm39) |
D361E |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,863,510 (GRCm39) |
S28P |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,876,260 (GRCm39) |
V284D |
probably damaging |
Het |
| Nrip2 |
A |
T |
6: 128,384,957 (GRCm39) |
D203V |
probably damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,047 (GRCm39) |
Y495N |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,829,103 (GRCm39) |
C171S |
probably damaging |
Het |
| Or52n4 |
A |
T |
7: 104,293,736 (GRCm39) |
V281E |
possibly damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,459 (GRCm39) |
L172M |
possibly damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,647 (GRCm39) |
M151L |
probably benign |
Het |
| Pacrg |
T |
A |
17: 10,795,523 (GRCm39) |
R146* |
probably null |
Het |
| Pcdh18 |
A |
T |
3: 49,699,624 (GRCm39) |
M946K |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,575,917 (GRCm39) |
I241T |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,243,639 (GRCm39) |
I944T |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,510,511 (GRCm39) |
F99L |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,431,493 (GRCm39) |
N756K |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,355,363 (GRCm39) |
M1555L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,355,364 (GRCm39) |
M1555R |
probably benign |
Het |
| Prl3c1 |
T |
A |
13: 27,386,385 (GRCm39) |
D123E |
probably benign |
Het |
| Prr22 |
G |
A |
17: 57,078,311 (GRCm39) |
G155R |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,698,899 (GRCm39) |
D1132G |
probably damaging |
Het |
| Rnf180 |
A |
T |
13: 105,318,056 (GRCm39) |
F452Y |
probably damaging |
Het |
| Scn4b |
A |
T |
9: 45,058,039 (GRCm39) |
I44F |
possibly damaging |
Het |
| Selenon |
A |
T |
4: 134,275,398 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,607,410 (GRCm39) |
I291L |
probably benign |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,444,438 (GRCm39) |
R174S |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,914,428 (GRCm39) |
F2370L |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,844,202 (GRCm39) |
H115L |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,381 (GRCm39) |
T1345S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,831 (GRCm39) |
N27354I |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,290 (GRCm39) |
Y854H |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,689,253 (GRCm39) |
W11R |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,577 (GRCm39) |
Q347R |
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 |
|
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 |
|
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 |
|
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'- TCTTTGGTGGCACTGAAACC -3'
(R):5'- TCTCCCCAGTGCAGAATTCC -3'
Sequencing Primer
(F):5'- CAAGCACTACTCTACGTTATGGG -3'
(R):5'- AGAATTCCCAGGCTCCATGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation