Incidental Mutation 'IGL02163:Cyp2w1'
| ID |
282544 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2w1
|
| Ensembl Gene |
ENSMUSG00000029541 |
| Gene Name |
cytochrome P450, family 2, subfamily w, polypeptide 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
139338372-139342788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139341920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 111
(M111K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031521]
[ENSMUST00000066052]
[ENSMUST00000197955]
[ENSMUST00000198474]
[ENSMUST00000198966]
|
| AlphaFold |
E9Q816 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031521
AA Change: M315K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031521
Gene: ENSMUSG00000029541
AA Change: M315K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
35 |
489 |
9.5e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066052
|
| SMART Domains |
Protein: ENSMUSP00000069230
Gene: ENSMUSG00000053553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
77 |
N/A |
INTRINSIC |
|
Pfam:DUF2373
|
103 |
165 |
3e-26 |
PFAM |
|
low complexity region
|
184 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197955
AA Change: M111K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143138
Gene: ENSMUSG00000029541
AA Change: M111K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:p450
|
1 |
201 |
1.1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198474
|
| SMART Domains |
Protein: ENSMUSP00000142949
Gene: ENSMUSG00000053553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
77 |
N/A |
INTRINSIC |
|
Pfam:DUF2373
|
102 |
141 |
9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198966
|
| SMART Domains |
Protein: ENSMUSP00000143206
Gene: ENSMUSG00000045438
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHCH
|
7 |
41 |
1.8e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200478
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,852 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,011,614 (GRCm39) |
V31A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,209 (GRCm39) |
V396I |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,916,477 (GRCm39) |
V411A |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,559,315 (GRCm39) |
V687A |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,523,230 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,595,859 (GRCm39) |
F342S |
possibly damaging |
Het |
| Foxred1 |
A |
T |
9: 35,117,192 (GRCm39) |
L313H |
probably damaging |
Het |
| Gm38392 |
G |
A |
3: 88,152,887 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,733,109 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,060,900 (GRCm39) |
M591K |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,344,262 (GRCm39) |
S217C |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,641 (GRCm39) |
H281R |
probably benign |
Het |
| Or1e1 |
T |
A |
11: 73,245,320 (GRCm39) |
V247E |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,679,871 (GRCm39) |
F526L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,898,223 (GRCm39) |
S955C |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,879,800 (GRCm39) |
S307R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,119 (GRCm39) |
P456S |
possibly damaging |
Het |
| Rgs8 |
C |
A |
1: 153,547,511 (GRCm39) |
T47K |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,246 (GRCm39) |
N1005I |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,669,824 (GRCm39) |
L20P |
probably damaging |
Het |
| Ttc21a |
C |
T |
9: 119,779,901 (GRCm39) |
Q403* |
probably null |
Het |
| Zbtb43 |
T |
C |
2: 33,343,795 (GRCm39) |
R477G |
possibly damaging |
Het |
|
| Other mutations in Cyp2w1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02174:Cyp2w1
|
APN |
5 |
139,341,384 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02797:Cyp2w1
|
APN |
5 |
139,342,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Cyp2w1
|
UTSW |
5 |
139,342,194 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1765:Cyp2w1
|
UTSW |
5 |
139,339,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Cyp2w1
|
UTSW |
5 |
139,342,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Cyp2w1
|
UTSW |
5 |
139,338,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6968:Cyp2w1
|
UTSW |
5 |
139,339,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7434:Cyp2w1
|
UTSW |
5 |
139,342,775 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7793:Cyp2w1
|
UTSW |
5 |
139,341,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9011:Cyp2w1
|
UTSW |
5 |
139,340,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9025:Cyp2w1
|
UTSW |
5 |
139,342,470 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9393:Cyp2w1
|
UTSW |
5 |
139,342,035 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation