Incidental Mutation 'IGL03389:Cyp2j13'
| ID |
420985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2j13
|
| Ensembl Gene |
ENSMUSG00000028571 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95956558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 184
(I184F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
| AlphaFold |
Q3UNV4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030305
AA Change: I184F
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: I184F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
499 |
6.7e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097973
AA Change: I184F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: I184F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
404 |
8.9e-97 |
PFAM |
|
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107078
AA Change: I184F
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
AA Change: I184F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
231 |
2.5e-39 |
PFAM |
|
Pfam:p450
|
218 |
345 |
8.6e-41 |
PFAM |
|
low complexity region
|
352 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120275
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
| Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
| Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
| Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
| Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
| Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
| Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
| Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
| Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
Het |
|
| Other mutations in Cyp2j13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Cyp2j13
|
APN |
4 |
95,950,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Cyp2j13
|
APN |
4 |
95,965,552 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01540:Cyp2j13
|
APN |
4 |
95,956,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL01923:Cyp2j13
|
APN |
4 |
95,950,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03124:Cyp2j13
|
APN |
4 |
95,950,159 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0671:Cyp2j13
|
UTSW |
4 |
95,959,932 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1351:Cyp2j13
|
UTSW |
4 |
95,945,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1510:Cyp2j13
|
UTSW |
4 |
95,950,209 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1708:Cyp2j13
|
UTSW |
4 |
95,950,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2327:Cyp2j13
|
UTSW |
4 |
95,947,344 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3834:Cyp2j13
|
UTSW |
4 |
95,944,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4643:Cyp2j13
|
UTSW |
4 |
95,945,161 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4867:Cyp2j13
|
UTSW |
4 |
95,947,235 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4900:Cyp2j13
|
UTSW |
4 |
95,947,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Cyp2j13
|
UTSW |
4 |
95,956,452 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5291:Cyp2j13
|
UTSW |
4 |
95,956,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Cyp2j13
|
UTSW |
4 |
95,965,669 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5837:Cyp2j13
|
UTSW |
4 |
95,959,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5912:Cyp2j13
|
UTSW |
4 |
95,945,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Cyp2j13
|
UTSW |
4 |
95,945,074 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6362:Cyp2j13
|
UTSW |
4 |
95,959,932 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6627:Cyp2j13
|
UTSW |
4 |
95,947,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7001:Cyp2j13
|
UTSW |
4 |
95,945,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Cyp2j13
|
UTSW |
4 |
95,965,655 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7620:Cyp2j13
|
UTSW |
4 |
95,944,899 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8717:Cyp2j13
|
UTSW |
4 |
95,933,777 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8810:Cyp2j13
|
UTSW |
4 |
95,945,153 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8850:Cyp2j13
|
UTSW |
4 |
95,956,428 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8981:Cyp2j13
|
UTSW |
4 |
95,965,527 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9359:Cyp2j13
|
UTSW |
4 |
95,950,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Cyp2j13
|
UTSW |
4 |
95,933,797 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation