Incidental Mutation 'IGL01782:Cyp2c23'
| ID |
153965 |
| 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 # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43993461-44017647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44017554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 25
(T25A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026211]
[ENSMUST00000211830]
|
| AlphaFold |
E9Q5K4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026211
AA Change: T25A
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: T25A
| 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: T25A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
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 |
|
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 |
2014-02-04 |
Incidental Mutation