Incidental Mutation 'R2866:Cyp2c68'
| ID |
253299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c68
|
| Ensembl Gene |
ENSMUSG00000074882 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
| Synonyms |
9030012A22Rik |
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39677589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 467
(I467T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
| AlphaFold |
K7N6C2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099472
AA Change: I467T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: I467T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
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 |
|
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 |
|
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'- CTTGGGCAATTAGATAACAGAAGCTG -3'
(R):5'- GCTATTTACAAACACAGTGCCTC -3'
Sequencing Primer
(F):5'- ATATAGATGGAATTCCTGGGACTG -3'
(R):5'- ACAGTGCCTCTTAAACTCACTTATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation