Incidental Mutation 'R6427:Cyp2j7'
ID |
535648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j7
|
Ensembl Gene |
ENSMUSG00000081362 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 7 |
Synonyms |
OTTMUSG00000007941, Cyp2j7-ps |
MMRRC Submission |
044566-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6427 (G1)
|
Quality Score |
65.0073 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96083434-96124896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96115904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 181
(D181Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162514]
|
AlphaFold |
A0A140T8U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162514
AA Change: D181Y
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134331 Gene: ENSMUSG00000081362 AA Change: D181Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
499 |
3.7e-130 |
PFAM |
|
Meta Mutation Damage Score |
0.4947 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
93% (39/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
Kat6b |
T |
C |
14: 21,567,480 (GRCm39) |
S180P |
probably benign |
Het |
Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
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 |
|
PIT4449001:Cyp2j7
|
UTSW |
4 |
96,103,575 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
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'- TCTTTCAAGAAATATGCAAAGGCAG -3'
(R):5'- AGATATCTACATTACACTCTACTGTGC -3'
Sequencing Primer
(F):5'- GGCAACTTACCACTAACATCATTG -3'
(R):5'- GGCAGGCAGGCAGGAAG -3'
|
Posted On |
2018-09-24 |