Incidental Mutation 'IGL01122:Cyp2c65'
| ID |
53276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c65
|
| Ensembl Gene |
ENSMUSG00000067231 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
| Synonyms |
2210009K14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL01122
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 39060621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
[ENSMUST00000087236]
|
| AlphaFold |
Q148B1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087236
|
| SMART Domains |
Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.1e-160 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087236
|
| SMART Domains |
Protein: ENSMUSP00000084489
Gene: ENSMUSG00000067231
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.1e-160 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap6 |
A |
T |
X: 168,029,666 (GRCm39) |
K142N |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,555 (GRCm39) |
L540Q |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,341,422 (GRCm39) |
|
probably null |
Het |
| Cops6 |
A |
G |
5: 138,160,635 (GRCm39) |
K129E |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,018,522 (GRCm39) |
*1289Q |
probably null |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,589 (GRCm39) |
I98T |
probably damaging |
Het |
| Dapl1 |
A |
T |
2: 59,324,839 (GRCm39) |
K30I |
probably damaging |
Het |
| Dlg2 |
A |
G |
7: 92,091,816 (GRCm39) |
M894V |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,112,320 (GRCm39) |
A202T |
possibly damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,215,739 (GRCm39) |
S170T |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,347,254 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,707,361 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,778,900 (GRCm39) |
D471G |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,325,149 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,338,264 (GRCm39) |
R445W |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,159,964 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,000 (GRCm39) |
V1083I |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,767 (GRCm39) |
I101T |
possibly damaging |
Het |
| Pbdc1 |
T |
C |
X: 104,126,297 (GRCm39) |
|
probably benign |
Het |
| Phlpp1 |
G |
T |
1: 106,101,166 (GRCm39) |
R478L |
possibly damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,587 (GRCm39) |
G127D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,844 (GRCm39) |
L493P |
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,454,971 (GRCm39) |
D423G |
probably benign |
Het |
| Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,445,694 (GRCm39) |
K60R |
probably benign |
Het |
| Scaf4 |
A |
G |
16: 90,045,518 (GRCm39) |
S528P |
unknown |
Het |
| Sfmbt1 |
A |
G |
14: 30,532,268 (GRCm39) |
I543V |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,386,679 (GRCm39) |
L1271P |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,960 (GRCm39) |
T1739K |
possibly damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tmprss11b |
G |
T |
5: 86,811,376 (GRCm39) |
T186K |
probably benign |
Het |
| U2surp |
G |
T |
9: 95,372,287 (GRCm39) |
Q291K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 120,997,358 (GRCm39) |
I738T |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,346 (GRCm39) |
S142T |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,988 (GRCm39) |
I222N |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,758,045 (GRCm39) |
N1503S |
probably damaging |
Het |
|
| Other mutations in Cyp2c65 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Cyp2c65
|
APN |
19 |
39,081,954 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01895:Cyp2c65
|
APN |
19 |
39,060,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02544:Cyp2c65
|
APN |
19 |
39,079,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Cyp2c65
|
UTSW |
19 |
39,076,100 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0378:Cyp2c65
|
UTSW |
19 |
39,061,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0517:Cyp2c65
|
UTSW |
19 |
39,070,792 (GRCm39) |
splice site |
probably benign |
|
|
R0585:Cyp2c65
|
UTSW |
19 |
39,057,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1770:Cyp2c65
|
UTSW |
19 |
39,070,642 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2051:Cyp2c65
|
UTSW |
19 |
39,070,675 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2310:Cyp2c65
|
UTSW |
19 |
39,081,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2911:Cyp2c65
|
UTSW |
19 |
39,076,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4208:Cyp2c65
|
UTSW |
19 |
39,079,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Cyp2c65
|
UTSW |
19 |
39,081,872 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4734:Cyp2c65
|
UTSW |
19 |
39,060,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4821:Cyp2c65
|
UTSW |
19 |
39,060,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Cyp2c65
|
UTSW |
19 |
39,049,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Cyp2c65
|
UTSW |
19 |
39,049,514 (GRCm39) |
missense |
unknown |
|
|
R5091:Cyp2c65
|
UTSW |
19 |
39,076,009 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5433:Cyp2c65
|
UTSW |
19 |
39,081,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6051:Cyp2c65
|
UTSW |
19 |
39,049,610 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6182:Cyp2c65
|
UTSW |
19 |
39,049,606 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6400:Cyp2c65
|
UTSW |
19 |
39,049,558 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6586:Cyp2c65
|
UTSW |
19 |
39,070,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6672:Cyp2c65
|
UTSW |
19 |
39,076,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6850:Cyp2c65
|
UTSW |
19 |
39,057,535 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8075:Cyp2c65
|
UTSW |
19 |
39,060,682 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8756:Cyp2c65
|
UTSW |
19 |
39,049,552 (GRCm39) |
nonsense |
probably null |
|
|
R9006:Cyp2c65
|
UTSW |
19 |
39,070,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Cyp2c65
|
UTSW |
19 |
39,061,663 (GRCm39) |
nonsense |
probably null |
|
|
R9231:Cyp2c65
|
UTSW |
19 |
39,060,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9663:Cyp2c65
|
UTSW |
19 |
39,079,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation