Incidental Mutation 'R1117:Cyp2c68'
ID |
97468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c68
|
Ensembl Gene |
ENSMUSG00000074882 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
Synonyms |
9030012A22Rik |
MMRRC Submission |
039190-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1117 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 39700903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 305
(T305M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
AlphaFold |
K7N6C2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099472
AA Change: T305M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097071 Gene: ENSMUSG00000074882 AA Change: T305M
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
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 |
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'- GATGCTTAGAACAGACCACCTGCC -3'
(R):5'- GACCATCTACACCACAGTCTCTGAAATG -3'
Sequencing Primer
(F):5'- TCAAACAAAGGACTGGCCTTG -3'
(R):5'- CCACAGTCTCTGAAATGGTATAAATG -3'
|
Posted On |
2014-01-05 |