Incidental Mutation 'IGL01286:Cyp2c50'
| ID |
72718 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c50
|
| Ensembl Gene |
ENSMUSG00000054827 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 50 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40078132-40102394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40080728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 241
(K241N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068094]
[ENSMUST00000080171]
|
| AlphaFold |
Q91X77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068094
|
| SMART Domains |
Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
225 |
3.7e-54 |
PFAM |
|
Pfam:p450
|
213 |
428 |
6.8e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080171
AA Change: K241N
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: K241N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.2e-162 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124391
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in Cyp2c50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01463:Cyp2c50
|
APN |
19 |
40,079,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Cyp2c50
|
APN |
19 |
40,086,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cyp2c50
|
APN |
19 |
40,079,543 (GRCm39) |
nonsense |
probably null |
|
|
IGL02331:Cyp2c50
|
APN |
19 |
40,079,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02830:Cyp2c50
|
APN |
19 |
40,086,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0115:Cyp2c50
|
UTSW |
19 |
40,080,837 (GRCm39) |
splice site |
probably benign |
|
|
R1666:Cyp2c50
|
UTSW |
19 |
40,079,499 (GRCm39) |
missense |
probably benign |
|
|
R1668:Cyp2c50
|
UTSW |
19 |
40,079,499 (GRCm39) |
missense |
probably benign |
|
|
R1679:Cyp2c50
|
UTSW |
19 |
40,099,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2425:Cyp2c50
|
UTSW |
19 |
40,078,292 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2509:Cyp2c50
|
UTSW |
19 |
40,079,013 (GRCm39) |
missense |
probably benign |
|
|
R2570:Cyp2c50
|
UTSW |
19 |
40,078,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3040:Cyp2c50
|
UTSW |
19 |
40,086,570 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3983:Cyp2c50
|
UTSW |
19 |
40,101,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4425:Cyp2c50
|
UTSW |
19 |
40,079,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4484:Cyp2c50
|
UTSW |
19 |
40,079,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Cyp2c50
|
UTSW |
19 |
40,079,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4820:Cyp2c50
|
UTSW |
19 |
40,102,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Cyp2c50
|
UTSW |
19 |
40,086,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Cyp2c50
|
UTSW |
19 |
40,079,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5807:Cyp2c50
|
UTSW |
19 |
40,101,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Cyp2c50
|
UTSW |
19 |
40,079,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6553:Cyp2c50
|
UTSW |
19 |
40,079,046 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6560:Cyp2c50
|
UTSW |
19 |
40,085,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7241:Cyp2c50
|
UTSW |
19 |
40,079,012 (GRCm39) |
missense |
probably benign |
|
|
R7389:Cyp2c50
|
UTSW |
19 |
40,079,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7511:Cyp2c50
|
UTSW |
19 |
40,080,634 (GRCm39) |
splice site |
probably null |
|
|
R9327:Cyp2c50
|
UTSW |
19 |
40,079,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Cyp2c50
|
UTSW |
19 |
40,086,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Cyp2c50
|
UTSW |
19 |
40,078,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Cyp2c50
|
UTSW |
19 |
40,086,399 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2013-10-07 |
Incidental Mutation