Incidental Mutation 'R0020:Cyp2j11'
ID |
19038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j11
|
Ensembl Gene |
ENSMUSG00000066097 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 11 |
Synonyms |
Cyp2j11-ps |
MMRRC Submission |
038315-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R0020 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96182745-96236899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 96195641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 352
(H352Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015368]
|
AlphaFold |
Q3UNV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015368
AA Change: H352Y
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132180 Gene: ENSMUSG00000066097 AA Change: H352Y
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
500 |
4.3e-133 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 82.6%
- 3x: 76.6%
- 10x: 60.3%
- 20x: 42.3%
|
Validation Efficiency |
92% (100/109) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,755,617 (GRCm39) |
I74K |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
Ccser1 |
C |
A |
6: 61,290,788 (GRCm39) |
T490K |
possibly damaging |
Het |
Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cnga4 |
G |
T |
7: 105,054,884 (GRCm39) |
R53L |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Fcho1 |
C |
T |
8: 72,169,514 (GRCm39) |
G131R |
probably benign |
Het |
Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
Kcna10 |
A |
T |
3: 107,102,736 (GRCm39) |
I456F |
probably damaging |
Het |
Loxl2 |
T |
C |
14: 69,898,242 (GRCm39) |
V232A |
probably damaging |
Het |
Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
Megf9 |
A |
G |
4: 70,406,386 (GRCm39) |
V260A |
probably benign |
Het |
Nampt |
A |
T |
12: 32,891,012 (GRCm39) |
S278C |
probably damaging |
Het |
Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
Pamr1 |
C |
T |
2: 102,472,423 (GRCm39) |
T574I |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,420,268 (GRCm39) |
Y3002C |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,487 (GRCm39) |
N256S |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
Sptbn5 |
T |
A |
2: 119,896,112 (GRCm39) |
I779F |
probably damaging |
Het |
Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
Zfp629 |
C |
G |
7: 127,210,341 (GRCm39) |
E489D |
probably benign |
Het |
Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
Het |
|
Other mutations in Cyp2j11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01101:Cyp2j11
|
APN |
4 |
96,227,332 (GRCm39) |
missense |
probably benign |
|
IGL01816:Cyp2j11
|
APN |
4 |
96,183,161 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02406:Cyp2j11
|
APN |
4 |
96,236,776 (GRCm39) |
missense |
possibly damaging |
0.56 |
E7848:Cyp2j11
|
UTSW |
4 |
96,207,602 (GRCm39) |
missense |
probably benign |
0.09 |
R0020:Cyp2j11
|
UTSW |
4 |
96,195,641 (GRCm39) |
missense |
probably benign |
0.19 |
R1298:Cyp2j11
|
UTSW |
4 |
96,195,497 (GRCm39) |
critical splice donor site |
probably null |
|
R1411:Cyp2j11
|
UTSW |
4 |
96,233,453 (GRCm39) |
missense |
probably benign |
0.03 |
R1428:Cyp2j11
|
UTSW |
4 |
96,183,117 (GRCm39) |
missense |
probably benign |
0.01 |
R1740:Cyp2j11
|
UTSW |
4 |
96,207,613 (GRCm39) |
missense |
probably benign |
0.00 |
R1818:Cyp2j11
|
UTSW |
4 |
96,185,976 (GRCm39) |
missense |
probably damaging |
0.97 |
R1819:Cyp2j11
|
UTSW |
4 |
96,185,976 (GRCm39) |
missense |
probably damaging |
0.97 |
R1917:Cyp2j11
|
UTSW |
4 |
96,228,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R2084:Cyp2j11
|
UTSW |
4 |
96,227,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R2150:Cyp2j11
|
UTSW |
4 |
96,204,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Cyp2j11
|
UTSW |
4 |
96,204,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R5335:Cyp2j11
|
UTSW |
4 |
96,195,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5450:Cyp2j11
|
UTSW |
4 |
96,228,113 (GRCm39) |
missense |
probably benign |
0.44 |
R5688:Cyp2j11
|
UTSW |
4 |
96,233,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R5978:Cyp2j11
|
UTSW |
4 |
96,207,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6061:Cyp2j11
|
UTSW |
4 |
96,236,853 (GRCm39) |
start gained |
probably benign |
|
R6075:Cyp2j11
|
UTSW |
4 |
96,233,322 (GRCm39) |
missense |
probably benign |
0.04 |
R6912:Cyp2j11
|
UTSW |
4 |
96,183,108 (GRCm39) |
missense |
probably benign |
0.00 |
R7338:Cyp2j11
|
UTSW |
4 |
96,195,524 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7394:Cyp2j11
|
UTSW |
4 |
96,204,677 (GRCm39) |
missense |
probably benign |
0.00 |
R7464:Cyp2j11
|
UTSW |
4 |
96,233,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R7972:Cyp2j11
|
UTSW |
4 |
96,185,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Cyp2j11
|
UTSW |
4 |
96,195,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8328:Cyp2j11
|
UTSW |
4 |
96,236,605 (GRCm39) |
missense |
probably benign |
0.03 |
R8383:Cyp2j11
|
UTSW |
4 |
96,236,695 (GRCm39) |
missense |
probably benign |
0.00 |
R8519:Cyp2j11
|
UTSW |
4 |
96,207,539 (GRCm39) |
missense |
probably benign |
0.44 |
R8789:Cyp2j11
|
UTSW |
4 |
96,227,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R9268:Cyp2j11
|
UTSW |
4 |
96,207,781 (GRCm39) |
intron |
probably benign |
|
R9323:Cyp2j11
|
UTSW |
4 |
96,195,619 (GRCm39) |
missense |
probably benign |
0.01 |
R9457:Cyp2j11
|
UTSW |
4 |
96,195,596 (GRCm39) |
missense |
probably damaging |
0.98 |
R9590:Cyp2j11
|
UTSW |
4 |
96,195,614 (GRCm39) |
missense |
probably benign |
0.11 |
Z1176:Cyp2j11
|
UTSW |
4 |
96,195,673 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Cyp2j11
|
UTSW |
4 |
96,195,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-03-25 |