Incidental Mutation 'IGL01467:Cyp2c23'
| ID |
88132 |
| 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 # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43993461-44017647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44003512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 221
(N221S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026211]
[ENSMUST00000211830]
|
| AlphaFold |
E9Q5K4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026211
AA Change: N221S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: N221S
| 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: N221S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Or2m13 |
T |
C |
16: 19,226,539 (GRCm39) |
T77A |
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
Het |
|
| Other mutations in Cyp2c23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL03382:Cyp2c23
|
APN |
19 |
44,003,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-11-18 |
Incidental Mutation