Incidental Mutation 'IGL00470:Cyp2j13'
| ID |
6628 |
| 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: 0.058)
|
| Stock # |
IGL00470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
95930897-95965803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95950275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 242
(P242L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030305]
[ENSMUST00000097973]
[ENSMUST00000107078]
|
| AlphaFold |
Q3UNV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030305
AA Change: P242L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030305
Gene: ENSMUSG00000028571
AA Change: P242L
| 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: P242L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095587
Gene: ENSMUSG00000028571
AA Change: P242L
| 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 |
probably benign
Transcript: ENSMUST00000107078
|
| SMART Domains |
Protein: ENSMUSP00000102693
Gene: ENSMUSG00000028571
| 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 |
probably benign
Transcript: ENSMUST00000132513
|
| SMART Domains |
Protein: ENSMUSP00000121962
Gene: ENSMUSG00000028571
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
156 |
2.1e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
| Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
| Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
| Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
| Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
| Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
| Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
| Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
| Other mutations in Cyp2j13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03389:Cyp2j13
|
APN |
4 |
95,956,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation