Incidental Mutation 'R5897:Cyp2c68'
ID |
457619 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c68
|
Ensembl Gene |
ENSMUSG00000074882 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
Synonyms |
9030012A22Rik |
MMRRC Submission |
044096-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5897 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39700975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 281
(D281G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
AlphaFold |
K7N6C2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099472
AA Change: D281G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000097071 Gene: ENSMUSG00000074882 AA Change: D281G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-150 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
probably benign |
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 |
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 |
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'- CTGCATTGTCCTAGCAACTTTTAGG -3'
(R):5'- CAGAATGCAATTTTGACAAACAGGG -3'
Sequencing Primer
(F):5'- CCTAGCAACTTTTAGGAATGCTGTGC -3'
(R):5'- TCTACACCACAGTCTCTGAAATGG -3'
|
Posted On |
2017-02-15 |