Incidental Mutation 'R6663:Cyp2j9'
| ID |
526866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j9
|
| Ensembl Gene |
ENSMUSG00000015224 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 9 |
| Synonyms |
8430417E17Rik |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96456666-96479815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96467679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 269
(W269L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050464
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055693]
|
| AlphaFold |
Q924D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055693
AA Change: W269L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000050464
Gene: ENSMUSG00000015224
AA Change: W269L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
498 |
8.7e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126509
|
| Meta Mutation Damage Score |
0.2490 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly damaging |
Het |
|
| Other mutations in Cyp2j9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00826:Cyp2j9
|
APN |
4 |
96,474,167 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01287:Cyp2j9
|
APN |
4 |
96,471,665 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0032:Cyp2j9
|
UTSW |
4 |
96,457,043 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0032:Cyp2j9
|
UTSW |
4 |
96,457,043 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0384:Cyp2j9
|
UTSW |
4 |
96,474,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0525:Cyp2j9
|
UTSW |
4 |
96,467,802 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1430:Cyp2j9
|
UTSW |
4 |
96,472,201 (GRCm39) |
splice site |
probably benign |
|
|
R1991:Cyp2j9
|
UTSW |
4 |
96,460,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Cyp2j9
|
UTSW |
4 |
96,460,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2881:Cyp2j9
|
UTSW |
4 |
96,462,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Cyp2j9
|
UTSW |
4 |
96,457,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Cyp2j9
|
UTSW |
4 |
96,456,972 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5782:Cyp2j9
|
UTSW |
4 |
96,462,142 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5898:Cyp2j9
|
UTSW |
4 |
96,465,951 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6259:Cyp2j9
|
UTSW |
4 |
96,472,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6353:Cyp2j9
|
UTSW |
4 |
96,474,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7719:Cyp2j9
|
UTSW |
4 |
96,457,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7915:Cyp2j9
|
UTSW |
4 |
96,479,621 (GRCm39) |
start gained |
probably benign |
|
|
R8832:Cyp2j9
|
UTSW |
4 |
96,474,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8856:Cyp2j9
|
UTSW |
4 |
96,462,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8976:Cyp2j9
|
UTSW |
4 |
96,479,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9497:Cyp2j9
|
UTSW |
4 |
96,460,211 (GRCm39) |
nonsense |
probably null |
|
|
R9649:Cyp2j9
|
UTSW |
4 |
96,460,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF020:Cyp2j9
|
UTSW |
4 |
96,465,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACGCAAAGCTTTCCTG -3'
(R):5'- AATGTGGCACCATGTGTCTC -3'
Sequencing Primer
(F):5'- CTGGCCAACAGGTATACAAGGGTC -3'
(R):5'- GGCACCATGTGTCTCCATAACTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation