Incidental Mutation 'R0975:Cyp2c68'
| ID |
81119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c68
|
| Ensembl Gene |
ENSMUSG00000074882 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
| Synonyms |
9030012A22Rik |
| MMRRC Submission |
039104-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39691802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 374
(T374A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
| AlphaFold |
K7N6C2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099472
AA Change: T374A
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: T374A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,155 (GRCm39) |
F690L |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,984,437 (GRCm39) |
Y464C |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,888,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,563,927 (GRCm39) |
N299K |
possibly damaging |
Het |
| Atl3 |
G |
A |
19: 7,498,500 (GRCm39) |
W210* |
probably null |
Het |
| Bag1 |
T |
C |
4: 40,937,152 (GRCm39) |
N320D |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,898,274 (GRCm39) |
N24D |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,823,993 (GRCm39) |
P1420L |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,614 (GRCm39) |
P304S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,648,619 (GRCm39) |
I969F |
possibly damaging |
Het |
| Coro1c |
C |
G |
5: 114,020,182 (GRCm39) |
R11P |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,004,165 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,597,622 (GRCm39) |
K459Q |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,857,532 (GRCm39) |
N289I |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,435,307 (GRCm39) |
I126N |
probably damaging |
Het |
| Esr2 |
C |
T |
12: 76,192,082 (GRCm39) |
M315I |
possibly damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,307 (GRCm39) |
N449I |
probably benign |
Het |
| Frmpd1 |
C |
T |
4: 45,279,000 (GRCm39) |
T575I |
probably benign |
Het |
| Gm14403 |
T |
G |
2: 177,201,217 (GRCm39) |
N145K |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,942,171 (GRCm39) |
D392G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,453,128 (GRCm39) |
S5396A |
probably benign |
Het |
| Hoxd12 |
G |
T |
2: 74,506,278 (GRCm39) |
R230L |
probably damaging |
Het |
| Khsrp |
T |
A |
17: 57,334,066 (GRCm39) |
D154V |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,462 (GRCm39) |
R344H |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 40,924,925 (GRCm39) |
E134G |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,742 (GRCm39) |
Q113* |
probably null |
Het |
| Mug1 |
A |
T |
6: 121,855,498 (GRCm39) |
D944V |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,826 (GRCm39) |
S950P |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Or1n1b |
C |
A |
2: 36,780,562 (GRCm39) |
M99I |
possibly damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,513 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,829,832 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,143,907 (GRCm39) |
|
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,399,500 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,472,320 (GRCm39) |
|
probably null |
Het |
| Recql5 |
A |
C |
11: 115,814,082 (GRCm39) |
D240E |
probably damaging |
Het |
| Sec31a |
A |
C |
5: 100,543,763 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,241 (GRCm39) |
V265A |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,165,735 (GRCm39) |
D7V |
possibly damaging |
Het |
| Stk31 |
C |
G |
6: 49,400,343 (GRCm39) |
D389E |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,893,966 (GRCm39) |
A146T |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,121,843 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,523,132 (GRCm39) |
D119V |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,570 (GRCm39) |
E287K |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,633 (GRCm39) |
M196L |
probably damaging |
Het |
| Vmn2r9 |
T |
G |
5: 108,991,169 (GRCm39) |
T731P |
probably damaging |
Het |
| Wfdc6b |
G |
A |
2: 164,455,705 (GRCm39) |
M11I |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,925,077 (GRCm39) |
T32S |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,814 (GRCm39) |
T327A |
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 |
|
|
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'- CAGAAGCCACCTCGAATTCTGCAT -3'
(R):5'- CCAGCTAAAGTCCAGGAAGAGATTGAC -3'
Sequencing Primer
(F):5'- GCAAATGTCATATTGCTGCTACC -3'
(R):5'- TGACAATGTGATTGGGAGACACC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation