Incidental Mutation 'R0560:Cyp2t4'
| ID |
45829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2t4
|
| Ensembl Gene |
ENSMUSG00000078787 |
| Gene Name |
cytochrome P450, family 2, subfamily t, polypeptide 4 |
| Synonyms |
LOC384724 |
| MMRRC Submission |
038752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R0560 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26853139-26857989 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26857936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 479
(T479A)
|
| 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 damaging
Transcript: ENSMUST00000108385
AA Change: T479A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104022
Gene: ENSMUSG00000078787
AA Change: T479A
| 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 damaging
Transcript: ENSMUST00000164093
AA Change: T487A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126779
Gene: ENSMUSG00000078787
AA Change: T487A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
43 |
500 |
2.6e-130 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (26/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
| Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
| Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
| Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,753,305 (GRCm39) |
S434P |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
| Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
| Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
| Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
| Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAACAACGATGCCTTCATGC -3'
(R):5'- TCAGAGCTGCACACACTTGTATTCC -3'
Sequencing Primer
(F):5'- TAGCACTGGGGGACTGG -3'
(R):5'- ACACACTTGTATTCCTCTCTGTAAAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation