Incidental Mutation 'PIT4449001:Cyp2j7'
| ID |
555726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j7
|
| Ensembl Gene |
ENSMUSG00000081362 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 7 |
| Synonyms |
OTTMUSG00000007941, Cyp2j7-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
PIT4449001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
96083434-96124896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96103575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 320
(T320K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162514]
|
| AlphaFold |
A0A140T8U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162514
AA Change: T320K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134331
Gene: ENSMUSG00000081362
AA Change: T320K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
499 |
3.7e-130 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
Het |
|
| Other mutations in Cyp2j7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Cyp2j7
|
APN |
4 |
96,115,750 (GRCm39) |
splice site |
probably null |
|
|
IGL00426:Cyp2j7
|
APN |
4 |
96,115,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL01505:Cyp2j7
|
APN |
4 |
96,115,917 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02100:Cyp2j7
|
APN |
4 |
96,124,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02183:Cyp2j7
|
APN |
4 |
96,118,384 (GRCm39) |
splice site |
probably benign |
|
|
IGL02596:Cyp2j7
|
APN |
4 |
96,103,659 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02661:Cyp2j7
|
APN |
4 |
96,124,887 (GRCm39) |
missense |
probably benign |
|
|
IGL02723:Cyp2j7
|
APN |
4 |
96,118,366 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03053:Cyp2j7
|
APN |
4 |
96,118,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03159:Cyp2j7
|
APN |
4 |
96,115,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL03168:Cyp2j7
|
APN |
4 |
96,118,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03174:Cyp2j7
|
APN |
4 |
96,083,607 (GRCm39) |
nonsense |
probably null |
|
|
R0016:Cyp2j7
|
UTSW |
4 |
96,090,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0016:Cyp2j7
|
UTSW |
4 |
96,090,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0392:Cyp2j7
|
UTSW |
4 |
96,087,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Cyp2j7
|
UTSW |
4 |
96,083,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1778:Cyp2j7
|
UTSW |
4 |
96,087,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Cyp2j7
|
UTSW |
4 |
96,105,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4105:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4106:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4107:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4108:Cyp2j7
|
UTSW |
4 |
96,087,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4438:Cyp2j7
|
UTSW |
4 |
96,105,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4660:Cyp2j7
|
UTSW |
4 |
96,083,579 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6193:Cyp2j7
|
UTSW |
4 |
96,083,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Cyp2j7
|
UTSW |
4 |
96,118,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6427:Cyp2j7
|
UTSW |
4 |
96,115,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6624:Cyp2j7
|
UTSW |
4 |
96,115,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7196:Cyp2j7
|
UTSW |
4 |
96,103,651 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7417:Cyp2j7
|
UTSW |
4 |
96,090,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7780:Cyp2j7
|
UTSW |
4 |
96,118,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8062:Cyp2j7
|
UTSW |
4 |
96,103,587 (GRCm39) |
missense |
probably null |
1.00 |
|
R8097:Cyp2j7
|
UTSW |
4 |
96,103,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8201:Cyp2j7
|
UTSW |
4 |
96,083,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8279:Cyp2j7
|
UTSW |
4 |
96,116,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9254:Cyp2j7
|
UTSW |
4 |
96,105,740 (GRCm39) |
nonsense |
probably null |
|
|
R9328:Cyp2j7
|
UTSW |
4 |
96,115,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Cyp2j7
|
UTSW |
4 |
96,124,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9489:Cyp2j7
|
UTSW |
4 |
96,103,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Cyp2j7
|
UTSW |
4 |
96,115,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Cyp2j7
|
UTSW |
4 |
96,115,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGAAGGCCCTGACCTTTC -3'
(R):5'- TTAGGGAAGATGTCCTCCCG -3'
Sequencing Primer
(F):5'- GAAGGCCCTGACCTTTCTCCAC -3'
(R):5'- AAGATGTCCTCCCGGTCAGAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation