Incidental Mutation 'R1620:Cyp2u1'
| ID |
254709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2u1
|
| Ensembl Gene |
ENSMUSG00000027983 |
| Gene Name |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
| Synonyms |
8430436A10Rik |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
41 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
131084140-131097806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131096350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
| 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: S143P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: S143P
| 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: S143P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: S143P
| 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 |
|
| Meta Mutation Damage Score |
0.2009 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gga1 |
G |
A |
15: 78,772,670 (GRCm39) |
S267N |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
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 |
|
IGL02365:Cyp2u1
|
APN |
3 |
131,091,878 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTGAGATCAGACCTATGCGTGAG -3'
(R):5'- TTTCTACGACCGCAGTTCTGGC -3'
Sequencing Primer
(F):5'- GGCCTCACTTGGGACAAAG -3'
(R):5'- GCCAGACGGACACGGTG -3'
|
| Posted On |
2014-12-18 |
Incidental Mutation