Incidental Mutation 'IGL02422:Cyp2c68'
ID |
292715 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02422
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 39722896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 217
(N217K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
AlphaFold |
K7N6C2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099472
AA Change: N217K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097071 Gene: ENSMUSG00000074882 AA Change: N217K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-150 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019M22Rik |
T |
C |
12: 96,013,821 (GRCm39) |
|
noncoding transcript |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Aak1 |
A |
T |
6: 86,959,598 (GRCm39) |
T846S |
unknown |
Het |
Adgrl1 |
A |
G |
8: 84,664,115 (GRCm39) |
D1149G |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,778,017 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,720,170 (GRCm39) |
V139A |
possibly damaging |
Het |
Arhgef16 |
G |
A |
4: 154,371,522 (GRCm39) |
R224* |
probably null |
Het |
Ash1l |
T |
A |
3: 88,976,386 (GRCm39) |
|
probably null |
Het |
Atm |
A |
T |
9: 53,412,092 (GRCm39) |
V988D |
probably damaging |
Het |
C3 |
T |
C |
17: 57,533,823 (GRCm39) |
E47G |
probably damaging |
Het |
Cdkn2aip |
G |
A |
8: 48,164,534 (GRCm39) |
S393L |
probably damaging |
Het |
Cep20 |
T |
G |
16: 14,118,070 (GRCm39) |
D150A |
probably benign |
Het |
Dapp1 |
A |
T |
3: 137,667,260 (GRCm39) |
S101T |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,462,660 (GRCm39) |
I242V |
probably null |
Het |
Dpy19l4 |
T |
C |
4: 11,265,803 (GRCm39) |
N715S |
possibly damaging |
Het |
Dync1h1 |
A |
G |
12: 110,606,644 (GRCm39) |
E2511G |
possibly damaging |
Het |
Gm9839 |
T |
A |
1: 32,558,943 (GRCm39) |
|
probably benign |
Het |
Grn |
A |
G |
11: 102,327,084 (GRCm39) |
|
probably benign |
Het |
Haus5 |
T |
C |
7: 30,359,571 (GRCm39) |
T196A |
possibly damaging |
Het |
Ik |
A |
G |
18: 36,886,313 (GRCm39) |
|
probably null |
Het |
Inpp5d |
T |
G |
1: 87,635,854 (GRCm39) |
F473C |
probably damaging |
Het |
Kif19a |
C |
A |
11: 114,680,187 (GRCm39) |
S841R |
probably damaging |
Het |
Lipn |
G |
A |
19: 34,046,063 (GRCm39) |
C12Y |
probably benign |
Het |
Ltbp4 |
G |
T |
7: 27,019,097 (GRCm39) |
P1074Q |
probably damaging |
Het |
Mfap2 |
T |
C |
4: 140,741,535 (GRCm39) |
S65P |
probably benign |
Het |
Mtbp |
T |
C |
15: 55,426,439 (GRCm39) |
F127S |
possibly damaging |
Het |
Or8k37 |
A |
G |
2: 86,469,560 (GRCm39) |
F164S |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,764,503 (GRCm39) |
D336G |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,871,237 (GRCm39) |
|
probably benign |
Het |
Plekhm3 |
A |
T |
1: 64,961,025 (GRCm39) |
C410* |
probably null |
Het |
Ppm1f |
T |
A |
16: 16,735,580 (GRCm39) |
H265Q |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
Rasal3 |
T |
C |
17: 32,617,947 (GRCm39) |
T207A |
probably benign |
Het |
Rnf17 |
T |
A |
14: 56,719,592 (GRCm39) |
N947K |
probably damaging |
Het |
Rpl3l |
C |
A |
17: 24,952,962 (GRCm39) |
Y307* |
probably null |
Het |
Sema4d |
A |
G |
13: 51,857,124 (GRCm39) |
S703P |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,954,280 (GRCm39) |
M857T |
probably benign |
Het |
Slc34a3 |
T |
C |
2: 25,122,275 (GRCm39) |
D110G |
probably benign |
Het |
Spata32 |
A |
T |
11: 103,099,706 (GRCm39) |
N266K |
probably benign |
Het |
Spata9 |
A |
G |
13: 76,141,193 (GRCm39) |
I147V |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,417,000 (GRCm39) |
Y326C |
possibly damaging |
Het |
Tpx2 |
T |
C |
2: 152,715,064 (GRCm39) |
I95T |
probably benign |
Het |
Usp17ld |
T |
A |
7: 102,899,967 (GRCm39) |
M322L |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
|
IGL03047:Cyp2c68
|
UTSW |
19 |
39,722,904 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2015-04-16 |