Incidental Mutation 'R4438:Cyp2j7'
ID |
329613 |
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 |
041703-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96083434-96124896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 96105646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 288
(T288K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162514]
|
AlphaFold |
A0A140T8U1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000162514
AA Change: T288K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134331 Gene: ENSMUSG00000081362 AA Change: T288K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
A |
2: 58,367,739 (GRCm39) |
I141F |
probably benign |
Het |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Adck1 |
C |
T |
12: 88,397,920 (GRCm39) |
Q185* |
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,870,108 (GRCm39) |
|
probably benign |
Het |
Als2cl |
T |
C |
9: 110,714,466 (GRCm39) |
S105P |
probably damaging |
Het |
Asns |
C |
A |
6: 7,675,320 (GRCm39) |
A561S |
probably benign |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Bst1 |
A |
T |
5: 43,982,682 (GRCm39) |
|
probably null |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
Csnk1e |
A |
T |
15: 79,305,129 (GRCm39) |
S323T |
probably benign |
Het |
Dnaaf5 |
T |
A |
5: 139,149,147 (GRCm39) |
I482N |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,392,284 (GRCm39) |
I636T |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,077,740 (GRCm39) |
T626P |
possibly damaging |
Het |
Fgfr2 |
G |
A |
7: 129,774,660 (GRCm39) |
R509* |
probably null |
Het |
Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
Gpr83 |
T |
C |
9: 14,776,134 (GRCm39) |
Y152H |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,705,596 (GRCm39) |
E400G |
probably damaging |
Het |
Hypk |
A |
T |
2: 121,288,475 (GRCm39) |
E82V |
probably damaging |
Het |
Iqub |
C |
A |
6: 24,505,867 (GRCm39) |
A14S |
probably benign |
Het |
Lias |
T |
C |
5: 65,552,787 (GRCm39) |
M130T |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,310,204 (GRCm39) |
S381P |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,704,635 (GRCm39) |
T1536A |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,860,996 (GRCm39) |
D265V |
probably damaging |
Het |
Mtbp |
C |
A |
15: 55,466,611 (GRCm39) |
S541R |
probably benign |
Het |
Or10j27 |
C |
A |
1: 172,957,869 (GRCm39) |
C305F |
probably benign |
Het |
Or2a54 |
T |
C |
6: 43,093,221 (GRCm39) |
S182P |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pcsk9 |
G |
T |
4: 106,316,156 (GRCm39) |
Q96K |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,718,192 (GRCm39) |
Y417C |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Setd1a |
A |
G |
7: 127,384,903 (GRCm39) |
N585D |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,650,637 (GRCm39) |
|
probably benign |
Het |
Snx19 |
G |
T |
9: 30,339,895 (GRCm39) |
L344F |
probably benign |
Het |
Srfbp1 |
T |
C |
18: 52,621,403 (GRCm39) |
C155R |
probably benign |
Het |
Sspo |
C |
T |
6: 48,464,287 (GRCm39) |
R3914C |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
Tmub1 |
A |
C |
5: 24,651,068 (GRCm39) |
L197R |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
Tnfrsf21 |
G |
T |
17: 43,398,733 (GRCm39) |
R613L |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,351,283 (GRCm39) |
E97D |
probably benign |
Het |
Vmn2r25 |
A |
G |
6: 123,816,756 (GRCm39) |
I275T |
probably benign |
Het |
Zfp1010 |
T |
G |
2: 176,956,889 (GRCm39) |
Q203P |
possibly damaging |
Het |
Zfp568 |
G |
T |
7: 29,721,721 (GRCm39) |
C221F |
probably benign |
Het |
Zfp91 |
C |
A |
19: 12,755,385 (GRCm39) |
E217* |
probably null |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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 |
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'- TGTTAGTGCCCTTTGAGAGC -3'
(R):5'- ATGAGCTCTACAATGCCCTTC -3'
Sequencing Primer
(F):5'- GAGTTTCCATAATCCTCAGAAGAAGC -3'
(R):5'- CCTTCCATAATGAAATATCTTCCTGG -3'
|
Posted On |
2015-07-21 |