Incidental Mutation 'IGL03047:Cyp2c68'
ID |
392245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c68
|
Ensembl Gene |
ENSMUSG00000074882 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
Synonyms |
9030012A22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03047 (G1)
|
Quality Score |
156 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 39722904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 215
(I215L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
AlphaFold |
K7N6C2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099472
AA Change: I215L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097071 Gene: ENSMUSG00000074882 AA Change: I215L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-150 |
PFAM |
|
Meta Mutation Damage Score |
0.0714 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
Nop14 |
C |
T |
5: 34,817,358 (GRCm39) |
R11K |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
probably damaging |
Het |
|
Other mutations in Cyp2c68 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Cyp2c68
|
APN |
19 |
39,700,939 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00826:Cyp2c68
|
APN |
19 |
39,727,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01363:Cyp2c68
|
APN |
19 |
39,691,871 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01892:Cyp2c68
|
APN |
19 |
39,722,788 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02088:Cyp2c68
|
APN |
19 |
39,691,965 (GRCm39) |
splice site |
probably benign |
|
IGL02422:Cyp2c68
|
APN |
19 |
39,722,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Cyp2c68
|
UTSW |
19 |
39,727,873 (GRCm39) |
missense |
probably benign |
0.08 |
R0729:Cyp2c68
|
UTSW |
19 |
39,727,994 (GRCm39) |
splice site |
probably benign |
|
R0975:Cyp2c68
|
UTSW |
19 |
39,691,802 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1117:Cyp2c68
|
UTSW |
19 |
39,700,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1370:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1436:Cyp2c68
|
UTSW |
19 |
39,729,484 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1564:Cyp2c68
|
UTSW |
19 |
39,724,024 (GRCm39) |
nonsense |
probably null |
|
R1730:Cyp2c68
|
UTSW |
19 |
39,687,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1865:Cyp2c68
|
UTSW |
19 |
39,722,733 (GRCm39) |
missense |
probably benign |
0.04 |
R1905:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.01 |
R1951:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
R1952:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
R2224:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.34 |
R2230:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
R2231:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
R2866:Cyp2c68
|
UTSW |
19 |
39,677,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R3104:Cyp2c68
|
UTSW |
19 |
39,722,757 (GRCm39) |
missense |
probably benign |
|
R4409:Cyp2c68
|
UTSW |
19 |
39,727,896 (GRCm39) |
missense |
probably damaging |
0.98 |
R4575:Cyp2c68
|
UTSW |
19 |
39,722,805 (GRCm39) |
missense |
probably benign |
0.21 |
R4620:Cyp2c68
|
UTSW |
19 |
39,701,006 (GRCm39) |
splice site |
probably null |
|
R4684:Cyp2c68
|
UTSW |
19 |
39,687,779 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5023:Cyp2c68
|
UTSW |
19 |
39,700,951 (GRCm39) |
missense |
probably benign |
0.01 |
R5410:Cyp2c68
|
UTSW |
19 |
39,687,728 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5513:Cyp2c68
|
UTSW |
19 |
39,691,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Cyp2c68
|
UTSW |
19 |
39,677,526 (GRCm39) |
missense |
probably benign |
0.19 |
R5706:Cyp2c68
|
UTSW |
19 |
39,722,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5890:Cyp2c68
|
UTSW |
19 |
39,700,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R5897:Cyp2c68
|
UTSW |
19 |
39,700,975 (GRCm39) |
missense |
probably benign |
0.01 |
R6007:Cyp2c68
|
UTSW |
19 |
39,722,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6132:Cyp2c68
|
UTSW |
19 |
39,691,858 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6187:Cyp2c68
|
UTSW |
19 |
39,729,452 (GRCm39) |
missense |
probably benign |
0.32 |
R6229:Cyp2c68
|
UTSW |
19 |
39,727,622 (GRCm39) |
missense |
probably benign |
0.02 |
R6341:Cyp2c68
|
UTSW |
19 |
39,700,933 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7209:Cyp2c68
|
UTSW |
19 |
39,677,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R7330:Cyp2c68
|
UTSW |
19 |
39,677,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R7374:Cyp2c68
|
UTSW |
19 |
39,727,648 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7402:Cyp2c68
|
UTSW |
19 |
39,729,318 (GRCm39) |
missense |
probably benign |
0.02 |
R7483:Cyp2c68
|
UTSW |
19 |
39,677,581 (GRCm39) |
missense |
probably benign |
0.02 |
R9103:Cyp2c68
|
UTSW |
19 |
39,727,625 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9204:Cyp2c68
|
UTSW |
19 |
39,727,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Cyp2c68
|
UTSW |
19 |
39,687,833 (GRCm39) |
missense |
possibly damaging |
0.75 |
Z1088:Cyp2c68
|
UTSW |
19 |
39,727,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACTCTATAGTCCAGGACAAGTC -3'
(R):5'- CACTCAAAAGATATGTGAGTGTGG -3'
Sequencing Primer
(F):5'- CTTTACCTGACGTCTTTGAATTAGG -3'
(R):5'- TTGCAGAAATTTGTTCAACCAATC -3'
|
Posted On |
2016-06-09 |