Incidental Mutation 'R9370:Cyp2t4'
ID |
709264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2t4
|
Ensembl Gene |
ENSMUSG00000078787 |
Gene Name |
cytochrome P450, family 2, subfamily t, polypeptide 4 |
Synonyms |
LOC384724 |
MMRRC Submission |
068964-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R9370 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26853139-26857989 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26854717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 66
(V66M)
|
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 |
possibly damaging
Transcript: ENSMUST00000108385
AA Change: V58M
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104022 Gene: ENSMUSG00000078787 AA Change: V58M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
35 |
492 |
5.3e-130 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164093
AA Change: V66M
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126779 Gene: ENSMUSG00000078787 AA Change: V66M
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1d1 |
T |
A |
6: 37,544,099 (GRCm39) |
*326R |
probably null |
Het |
Cntn5 |
T |
A |
9: 9,833,520 (GRCm39) |
I344F |
probably benign |
Het |
Eln |
C |
T |
5: 134,741,476 (GRCm39) |
V563I |
unknown |
Het |
Epb41l5 |
T |
C |
1: 119,561,312 (GRCm39) |
Y83C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,673,511 (GRCm39) |
D91G |
possibly damaging |
Het |
Fscn3 |
T |
C |
6: 28,434,535 (GRCm39) |
V370A |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,131,940 (GRCm39) |
N1550S |
probably benign |
Het |
Gck |
T |
C |
11: 5,852,244 (GRCm39) |
D365G |
possibly damaging |
Het |
Hhatl |
C |
T |
9: 121,617,836 (GRCm39) |
G251E |
possibly damaging |
Het |
Hspa12a |
A |
G |
19: 58,813,708 (GRCm39) |
F139S |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,018 (GRCm39) |
D497G |
probably damaging |
Het |
Ino80 |
A |
G |
2: 119,232,848 (GRCm39) |
S1157P |
probably damaging |
Het |
Jmjd6 |
A |
G |
11: 116,729,952 (GRCm39) |
I315T |
probably benign |
Het |
Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lyst |
C |
T |
13: 13,935,333 (GRCm39) |
H3601Y |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,624 (GRCm39) |
S76P |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,969,249 (GRCm39) |
E337G |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,760,246 (GRCm39) |
D254G |
possibly damaging |
Het |
Nell1 |
A |
T |
7: 49,770,292 (GRCm39) |
E117V |
probably damaging |
Het |
Pcdhgb7 |
T |
C |
18: 37,884,937 (GRCm39) |
S36P |
possibly damaging |
Het |
Rps6kc1 |
A |
C |
1: 190,531,222 (GRCm39) |
L927V |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,441,080 (GRCm39) |
I1042N |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,481,259 (GRCm39) |
N41D |
possibly damaging |
Het |
Slc5a11 |
A |
G |
7: 122,834,855 (GRCm39) |
T5A |
probably benign |
Het |
Tbc1d22a |
C |
T |
15: 86,123,441 (GRCm39) |
T194I |
probably benign |
Het |
Tmem234 |
T |
A |
4: 129,500,922 (GRCm39) |
V93D |
probably damaging |
Het |
Trim43b |
T |
C |
9: 88,971,559 (GRCm39) |
E199G |
probably benign |
Het |
Ttc24 |
A |
T |
3: 87,980,136 (GRCm39) |
V148E |
probably benign |
Het |
Utp15 |
A |
G |
13: 98,387,119 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,104,424 (GRCm39) |
Y349C |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,546,844 (GRCm39) |
V865E |
probably damaging |
Het |
Zfhx3 |
C |
T |
8: 109,521,340 (GRCm39) |
R821C |
probably damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,791 (GRCm39) |
D41G |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
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 |
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 |
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'- TTAGACAGGATGGTCACCTGC -3'
(R):5'- TCTAGGCATCAGCTCTTAGACAC -3'
Sequencing Primer
(F):5'- ATGGTCACCTGCTTGGC -3'
(R):5'- ATCAGCTCTTAGACACAGGGGTC -3'
|
Posted On |
2022-04-18 |