Incidental Mutation 'IGL00580:Cyp2j12'
| ID |
332702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2j12
|
| Ensembl Gene |
ENSMUSG00000081225 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 12 |
| Synonyms |
OTTMUSG00000007939, Cyp2j12-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL00580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
95987555-96029389 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 95994826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097972]
[ENSMUST00000121694]
|
| AlphaFold |
G3UXT0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097972
|
| SMART Domains |
Protein: ENSMUSP00000133811
Gene: ENSMUSG00000081225
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
498 |
8.2e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121694
|
| SMART Domains |
Protein: ENSMUSP00000134394
Gene: ENSMUSG00000081225
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
SCOP:d1cpt__
|
39 |
70 |
2e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,845 (GRCm39) |
Y406F |
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,557,788 (GRCm39) |
N786K |
probably benign |
Het |
| Clcnka |
C |
T |
4: 141,118,712 (GRCm39) |
W391* |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,599,508 (GRCm39) |
S882T |
probably benign |
Het |
| Cyp4f17 |
C |
A |
17: 32,743,849 (GRCm39) |
Y342* |
probably null |
Het |
| Fancg |
A |
T |
4: 43,003,910 (GRCm39) |
C506* |
probably null |
Het |
| Grid2 |
A |
T |
6: 64,322,573 (GRCm39) |
L524F |
probably damaging |
Het |
| Haao |
C |
T |
17: 84,142,359 (GRCm39) |
|
probably benign |
Het |
| Il17re |
A |
G |
6: 113,446,560 (GRCm39) |
D256G |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,935,767 (GRCm39) |
F107L |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,355,691 (GRCm39) |
I232F |
probably benign |
Het |
| Kmt2b |
T |
A |
7: 30,285,938 (GRCm39) |
|
probably benign |
Het |
| Maoa |
T |
C |
X: 16,547,085 (GRCm39) |
V380A |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,126,008 (GRCm39) |
T1121A |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,870 (GRCm39) |
T3878A |
probably damaging |
Het |
| Plcb2 |
G |
A |
2: 118,549,370 (GRCm39) |
R331W |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Psen1 |
C |
T |
12: 83,777,343 (GRCm39) |
S329F |
probably benign |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,190,673 (GRCm39) |
T50A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,773,501 (GRCm39) |
S1148T |
probably damaging |
Het |
| Zfp599 |
G |
T |
9: 22,160,768 (GRCm39) |
Q466K |
possibly damaging |
Het |
| Zfp964 |
A |
G |
8: 70,112,043 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cyp2j12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Cyp2j12
|
APN |
4 |
96,003,814 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01723:Cyp2j12
|
APN |
4 |
95,990,363 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01737:Cyp2j12
|
APN |
4 |
96,010,895 (GRCm39) |
makesense |
probably null |
|
|
IGL01936:Cyp2j12
|
APN |
4 |
96,021,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01962:Cyp2j12
|
APN |
4 |
95,987,999 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02691:Cyp2j12
|
APN |
4 |
96,021,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0255:Cyp2j12
|
UTSW |
4 |
96,029,262 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0613:Cyp2j12
|
UTSW |
4 |
95,990,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Cyp2j12
|
UTSW |
4 |
96,001,099 (GRCm39) |
splice site |
probably benign |
|
|
R1016:Cyp2j12
|
UTSW |
4 |
96,001,102 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1251:Cyp2j12
|
UTSW |
4 |
96,003,903 (GRCm39) |
nonsense |
probably null |
|
|
R1753:Cyp2j12
|
UTSW |
4 |
96,009,669 (GRCm39) |
splice site |
probably null |
|
|
R2258:Cyp2j12
|
UTSW |
4 |
96,021,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Cyp2j12
|
UTSW |
4 |
96,021,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4559:Cyp2j12
|
UTSW |
4 |
96,001,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Cyp2j12
|
UTSW |
4 |
96,021,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4923:Cyp2j12
|
UTSW |
4 |
95,990,346 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4928:Cyp2j12
|
UTSW |
4 |
95,990,388 (GRCm39) |
splice site |
probably null |
|
|
R5591:Cyp2j12
|
UTSW |
4 |
96,029,359 (GRCm39) |
start gained |
probably benign |
|
|
R5897:Cyp2j12
|
UTSW |
4 |
95,990,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Cyp2j12
|
UTSW |
4 |
96,029,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6942:Cyp2j12
|
UTSW |
4 |
96,001,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7422:Cyp2j12
|
UTSW |
4 |
96,029,222 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7453:Cyp2j12
|
UTSW |
4 |
95,990,363 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7839:Cyp2j12
|
UTSW |
4 |
95,987,893 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8437:Cyp2j12
|
UTSW |
4 |
95,987,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Cyp2j12
|
UTSW |
4 |
96,021,259 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8683:Cyp2j12
|
UTSW |
4 |
96,009,805 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8701:Cyp2j12
|
UTSW |
4 |
96,009,810 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8864:Cyp2j12
|
UTSW |
4 |
96,009,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Cyp2j12
|
UTSW |
4 |
95,994,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Cyp2j12
|
UTSW |
4 |
95,994,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation