Incidental Mutation 'R8789:Cyp2j11'
ID |
670804 |
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 |
068608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R8789 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
96182745-96236899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96227405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 204
(E204K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015368]
|
AlphaFold |
Q3UNV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015368
AA Change: E204K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132180 Gene: ENSMUSG00000066097 AA Change: E204K
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 |
0.2204 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGGCTTCAAAGAGTCTCTCA -3'
(R):5'- GGGCGAGACTCCATATTATGC -3'
Sequencing Primer
(F):5'- CTTCAAAGAGTCTCTCAAACAAAATG -3'
(R):5'- GGGCGAGACTCCATATTATGCTCTAC -3'
|
Posted On |
2021-04-30 |