Incidental Mutation 'IGL01669:Cyp2c50'
ID |
103393 |
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: 0.064)
|
Stock # |
IGL01669
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
40078132-40102394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 40086495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 294
(H294L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068094]
[ENSMUST00000080171]
|
AlphaFold |
Q91X77 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068094
AA Change: H294L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068039 Gene: ENSMUSG00000054827 AA Change: H294L
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 damaging
Transcript: ENSMUST00000080171
AA Change: H353L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079065 Gene: ENSMUSG00000054827 AA Change: H353L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1.2e-162 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
Galk2 |
T |
A |
2: 125,729,807 (GRCm39) |
Y63N |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
probably benign |
Het |
|
Other mutations in Cyp2c50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01286:Cyp2c50
|
APN |
19 |
40,080,728 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01463:Cyp2c50
|
APN |
19 |
40,079,422 (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 |
2014-01-21 |