Incidental Mutation 'IGL03382:Cyp2c23'
| ID |
420750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c23
|
| Ensembl Gene |
ENSMUSG00000025197 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 23 |
| Synonyms |
Cyp2c44 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43993461-44017647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44003371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 268
(I268T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026211]
[ENSMUST00000211830]
|
| AlphaFold |
E9Q5K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026211
AA Change: I268T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: I268T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
34 |
491 |
2.1e-152 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211830
AA Change: I268T
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele show reduced proliferative and tubulogenic responses in lung endothelial cells, decreased tumor angiogenesis and growth of induced tumors, and high potassium-induced hypertension with decreased urinary sodium excretion and increased plasma sodium levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,988,926 (GRCm39) |
D831G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,331 (GRCm39) |
K509E |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,808,771 (GRCm39) |
K449E |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,855,828 (GRCm39) |
P459L |
probably benign |
Het |
| Atr |
C |
T |
9: 95,802,875 (GRCm39) |
R1846* |
probably null |
Het |
| Brd10 |
C |
T |
19: 29,694,676 (GRCm39) |
G1606R |
probably damaging |
Het |
| Ccdc159 |
C |
A |
9: 21,842,992 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
A |
C |
3: 54,954,698 (GRCm39) |
Y338D |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,213,089 (GRCm39) |
E36V |
probably damaging |
Het |
| Dctn2 |
G |
T |
10: 127,114,057 (GRCm39) |
Q332H |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,972,769 (GRCm39) |
I2055F |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,528,279 (GRCm39) |
H764R |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,528,087 (GRCm39) |
I135K |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,409 (GRCm39) |
M1T |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,519,714 (GRCm39) |
D406G |
probably benign |
Het |
| Klk10 |
G |
T |
7: 43,433,883 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,367,616 (GRCm39) |
W53R |
probably benign |
Het |
| Magel2 |
T |
C |
7: 62,028,461 (GRCm39) |
V455A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,442 (GRCm39) |
T98A |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 146,951,373 (GRCm39) |
C76* |
probably null |
Het |
| Myh7b |
C |
T |
2: 155,465,399 (GRCm39) |
R701C |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,215,720 (GRCm39) |
M196L |
probably benign |
Het |
| Nmd3 |
A |
G |
3: 69,642,421 (GRCm39) |
K207R |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,179,129 (GRCm39) |
R962Q |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,421,261 (GRCm39) |
K230E |
unknown |
Het |
| Psme4 |
A |
G |
11: 30,757,788 (GRCm39) |
D307G |
possibly damaging |
Het |
| Rnf41 |
T |
G |
10: 128,274,149 (GRCm39) |
M267R |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,836,052 (GRCm39) |
N846D |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,659,227 (GRCm39) |
I463L |
probably benign |
Het |
| Slc25a39 |
A |
T |
11: 102,297,030 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
C |
T |
17: 45,877,571 (GRCm39) |
R233C |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,376,695 (GRCm39) |
L983P |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,159,984 (GRCm39) |
Y123C |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,906,056 (GRCm39) |
I395S |
probably benign |
Het |
| Triml2 |
A |
G |
8: 43,646,776 (GRCm39) |
T422A |
probably benign |
Het |
| Ubn2 |
T |
C |
6: 38,417,382 (GRCm39) |
|
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,555 (GRCm39) |
M141K |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,362 (GRCm39) |
E333G |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,639 (GRCm39) |
|
probably benign |
Het |
| Zfp942 |
G |
A |
17: 22,148,083 (GRCm39) |
P182L |
probably benign |
Het |
|
| Other mutations in Cyp2c23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Cyp2c23
|
APN |
19 |
44,003,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01642:Cyp2c23
|
APN |
19 |
43,993,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01782:Cyp2c23
|
APN |
19 |
44,017,554 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01843:Cyp2c23
|
APN |
19 |
43,994,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02902:Cyp2c23
|
APN |
19 |
44,009,997 (GRCm39) |
splice site |
probably benign |
|
|
R0196:Cyp2c23
|
UTSW |
19 |
44,000,795 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0735:Cyp2c23
|
UTSW |
19 |
44,005,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Cyp2c23
|
UTSW |
19 |
44,002,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Cyp2c23
|
UTSW |
19 |
43,993,947 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1809:Cyp2c23
|
UTSW |
19 |
44,009,997 (GRCm39) |
splice site |
probably benign |
|
|
R1872:Cyp2c23
|
UTSW |
19 |
43,993,990 (GRCm39) |
nonsense |
probably null |
|
|
R2866:Cyp2c23
|
UTSW |
19 |
43,993,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Cyp2c23
|
UTSW |
19 |
43,995,478 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4234:Cyp2c23
|
UTSW |
19 |
44,017,604 (GRCm39) |
missense |
unknown |
|
|
R4748:Cyp2c23
|
UTSW |
19 |
44,005,176 (GRCm39) |
splice site |
probably null |
|
|
R4948:Cyp2c23
|
UTSW |
19 |
44,010,138 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5101:Cyp2c23
|
UTSW |
19 |
44,017,622 (GRCm39) |
missense |
unknown |
|
|
R5420:Cyp2c23
|
UTSW |
19 |
44,004,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5770:Cyp2c23
|
UTSW |
19 |
44,010,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5993:Cyp2c23
|
UTSW |
19 |
44,000,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Cyp2c23
|
UTSW |
19 |
43,993,902 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6269:Cyp2c23
|
UTSW |
19 |
44,017,626 (GRCm39) |
start codon destroyed |
unknown |
|
|
R6610:Cyp2c23
|
UTSW |
19 |
43,995,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Cyp2c23
|
UTSW |
19 |
44,010,176 (GRCm39) |
splice site |
probably null |
|
|
R7603:Cyp2c23
|
UTSW |
19 |
44,003,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Cyp2c23
|
UTSW |
19 |
43,995,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Cyp2c23
|
UTSW |
19 |
44,004,242 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8157:Cyp2c23
|
UTSW |
19 |
44,010,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8813:Cyp2c23
|
UTSW |
19 |
44,002,054 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9497:Cyp2c23
|
UTSW |
19 |
44,010,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Cyp2c23
|
UTSW |
19 |
44,017,610 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation