Incidental Mutation 'R6560:Cyp2c50'
ID |
522048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c50
|
Ensembl Gene |
ENSMUSG00000054827 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 50 |
Synonyms |
|
MMRRC Submission |
044684-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R6560 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
40078132-40102394 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40085299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 320
(T320A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079065
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068094]
[ENSMUST00000080171]
|
AlphaFold |
Q91X77 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068094
AA Change: T261A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000068039 Gene: ENSMUSG00000054827 AA Change: T261A
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: T320A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000079065 Gene: ENSMUSG00000054827 AA Change: T320A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
Acin1 |
T |
C |
14: 54,916,290 (GRCm39) |
T174A |
probably benign |
Het |
Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
Dio2 |
G |
C |
12: 90,696,607 (GRCm39) |
S127* |
probably null |
Het |
Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
Mfn1 |
T |
C |
3: 32,623,665 (GRCm39) |
I263T |
probably damaging |
Het |
Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
Pcgf3 |
C |
A |
5: 108,621,768 (GRCm39) |
H35Q |
probably damaging |
Het |
Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTGGCCACAAAATGAAGTTG -3'
(R):5'- CTGGGAACTGAGAACTCATAGTC -3'
Sequencing Primer
(F):5'- GCTTGAACACCTGGCAAT -3'
(R):5'- GGGAACTGAGAACTCATAGTCTCTAC -3'
|
Posted On |
2018-06-06 |