Incidental Mutation 'IGL02365:Cyp2u1'
ID |
290686 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2u1
|
Ensembl Gene |
ENSMUSG00000027983 |
Gene Name |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
Synonyms |
8430436A10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
IGL02365
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
131084140-131097806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 131091878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 214
(V214A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106337]
[ENSMUST00000200236]
|
AlphaFold |
Q9CX98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106337
AA Change: V214A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101944 Gene: ENSMUSG00000027983 AA Change: V214A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:p450
|
69 |
527 |
4.2e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198606
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200236
AA Change: V214A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000142519 Gene: ENSMUSG00000027983 AA Change: V214A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:p450
|
69 |
473 |
1.1e-108 |
PFAM |
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
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. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,754,146 (GRCm39) |
N354K |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
Csf2rb2 |
A |
T |
15: 78,171,260 (GRCm39) |
M333K |
possibly damaging |
Het |
Dcaf5 |
A |
T |
12: 80,445,547 (GRCm39) |
H177Q |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
Rnpc3 |
A |
G |
3: 113,402,048 (GRCm39) |
S500P |
probably damaging |
Het |
Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
Zwilch |
T |
A |
9: 64,068,206 (GRCm39) |
D203V |
probably damaging |
Het |
|
Other mutations in Cyp2u1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02027:Cyp2u1
|
APN |
3 |
131,091,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R0387:Cyp2u1
|
UTSW |
3 |
131,089,201 (GRCm39) |
splice site |
probably null |
|
R0781:Cyp2u1
|
UTSW |
3 |
131,087,258 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1110:Cyp2u1
|
UTSW |
3 |
131,087,258 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1620:Cyp2u1
|
UTSW |
3 |
131,096,350 (GRCm39) |
missense |
probably damaging |
0.98 |
R3087:Cyp2u1
|
UTSW |
3 |
131,096,676 (GRCm39) |
missense |
probably benign |
|
R3845:Cyp2u1
|
UTSW |
3 |
131,087,135 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4996:Cyp2u1
|
UTSW |
3 |
131,091,933 (GRCm39) |
missense |
probably benign |
0.00 |
R5913:Cyp2u1
|
UTSW |
3 |
131,096,860 (GRCm39) |
unclassified |
probably benign |
|
R6815:Cyp2u1
|
UTSW |
3 |
131,091,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6903:Cyp2u1
|
UTSW |
3 |
131,096,424 (GRCm39) |
missense |
probably benign |
0.03 |
R6932:Cyp2u1
|
UTSW |
3 |
131,091,945 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7067:Cyp2u1
|
UTSW |
3 |
131,087,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R7167:Cyp2u1
|
UTSW |
3 |
131,096,773 (GRCm39) |
missense |
probably benign |
0.23 |
R7193:Cyp2u1
|
UTSW |
3 |
131,084,792 (GRCm39) |
missense |
probably benign |
|
R7262:Cyp2u1
|
UTSW |
3 |
131,091,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Cyp2u1
|
UTSW |
3 |
131,087,144 (GRCm39) |
missense |
probably benign |
0.01 |
R7488:Cyp2u1
|
UTSW |
3 |
131,091,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Cyp2u1
|
UTSW |
3 |
131,091,602 (GRCm39) |
missense |
probably damaging |
0.99 |
R7733:Cyp2u1
|
UTSW |
3 |
131,096,676 (GRCm39) |
missense |
probably benign |
0.40 |
R8110:Cyp2u1
|
UTSW |
3 |
131,087,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R8819:Cyp2u1
|
UTSW |
3 |
131,092,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8820:Cyp2u1
|
UTSW |
3 |
131,092,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8887:Cyp2u1
|
UTSW |
3 |
131,096,503 (GRCm39) |
missense |
probably damaging |
0.98 |
R8919:Cyp2u1
|
UTSW |
3 |
131,089,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R9334:Cyp2u1
|
UTSW |
3 |
131,092,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R9377:Cyp2u1
|
UTSW |
3 |
131,091,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9778:Cyp2u1
|
UTSW |
3 |
131,087,133 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Posted On |
2015-04-16 |