Incidental Mutation 'R5978:Cyp2j11'
ID |
481245 |
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 |
044160-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R5978 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
96182745-96236899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 96207589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 242
(L242R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015368]
|
AlphaFold |
Q3UNV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000015368
AA Change: L242R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132180 Gene: ENSMUSG00000066097 AA Change: L242R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
500 |
4.3e-133 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks6 |
T |
A |
4: 47,049,252 (GRCm39) |
S218C |
probably damaging |
Het |
Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,037,361 (GRCm39) |
|
probably null |
Het |
Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,438,665 (GRCm39) |
E274G |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
Ptgr2 |
G |
T |
12: 84,342,032 (GRCm39) |
E27* |
probably null |
Het |
Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
Tmem39a |
T |
A |
16: 38,411,392 (GRCm39) |
M449K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTATGAAGACGCAGGCAGC -3'
(R):5'- GGCCTATTAAAACTGGTCTGTTGC -3'
Sequencing Primer
(F):5'- ACGCAGGCAGCATCTTC -3'
(R):5'- TGGCACAGTTGAATCACCTG -3'
|
Posted On |
2017-06-26 |