Incidental Mutation 'R6553:Cyp2c50'
| ID |
521811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c50
|
| Ensembl Gene |
ENSMUSG00000054827 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 50 |
| Synonyms |
|
| MMRRC Submission |
044678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6553 (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 40079046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 130
(T130A)
|
| 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: T130A
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: T130A
| 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: T130A
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: T130A
| 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: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Asic5 |
A |
T |
3: 81,916,773 (GRCm39) |
T288S |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,945,692 (GRCm39) |
N72S |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,975 (GRCm39) |
V1196E |
probably damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,213,012 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gm2888 |
A |
G |
14: 3,037,722 (GRCm38) |
H238R |
possibly damaging |
Het |
| Gm5622 |
A |
G |
14: 51,895,200 (GRCm39) |
K120E |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,126,558 (GRCm39) |
V245A |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,668,024 (GRCm39) |
V28I |
probably damaging |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or6c6c |
C |
T |
10: 129,540,932 (GRCm39) |
R62C |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav13n-3 |
A |
G |
14: 53,574,618 (GRCm39) |
T14A |
probably benign |
Het |
| Trav9d-4 |
A |
T |
14: 53,221,198 (GRCm39) |
Q63L |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,453 (GRCm39) |
N450Y |
probably benign |
Het |
| Vmn2r97 |
G |
A |
17: 19,150,566 (GRCm39) |
W471* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
| Zpld2 |
A |
G |
4: 133,929,367 (GRCm39) |
S313P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAGCAGAGGCCAACTC -3'
(R):5'- AGGGCAATGCATGGATTGGC -3'
Sequencing Primer
(F):5'- AACTCTGCTCCTGAGACACAGTTTG -3'
(R):5'- GGATTGGCCATTCACTGAAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation