Incidental Mutation 'R5113:Cyp2c66'
ID |
394047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c66
|
Ensembl Gene |
ENSMUSG00000067229 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
Synonyms |
2010301M18Rik |
MMRRC Submission |
042701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R5113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39151882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 199
(D199G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087234]
[ENSMUST00000146494]
|
AlphaFold |
Q5GLZ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087234
AA Change: D199G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084487 Gene: ENSMUSG00000067229 AA Change: D199G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146494
|
SMART Domains |
Protein: ENSMUSP00000120397 Gene: ENSMUSG00000067229
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCOP:d1cpt__
|
26 |
55 |
4e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
A |
G |
11: 70,206,821 (GRCm39) |
V622A |
possibly damaging |
Het |
Ankef1 |
A |
G |
2: 136,394,361 (GRCm39) |
N590S |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ano3 |
A |
T |
2: 110,491,825 (GRCm39) |
N867K |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,973,582 (GRCm39) |
V2547A |
probably damaging |
Het |
Chil5 |
A |
T |
3: 105,925,294 (GRCm39) |
V209E |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,613,147 (GRCm39) |
C459S |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,944,159 (GRCm39) |
D1105V |
possibly damaging |
Het |
Cyp4f18 |
A |
G |
8: 72,742,902 (GRCm39) |
|
probably null |
Het |
Cysrt1 |
A |
T |
2: 25,129,363 (GRCm39) |
C50S |
possibly damaging |
Het |
Dapk1 |
A |
G |
13: 60,869,592 (GRCm39) |
K278R |
probably benign |
Het |
Eefsec |
C |
A |
6: 88,258,557 (GRCm39) |
S512I |
probably damaging |
Het |
Emilin1 |
T |
C |
5: 31,077,964 (GRCm39) |
F908L |
possibly damaging |
Het |
Eml1 |
T |
C |
12: 108,503,596 (GRCm39) |
V731A |
possibly damaging |
Het |
Erc2 |
T |
C |
14: 27,374,829 (GRCm39) |
S16P |
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,714,626 (GRCm39) |
R342G |
probably damaging |
Het |
Gpr142 |
A |
T |
11: 114,695,143 (GRCm39) |
Q36L |
probably benign |
Het |
Grik5 |
A |
G |
7: 24,714,952 (GRCm39) |
S681P |
probably damaging |
Het |
Hecw1 |
A |
T |
13: 14,520,614 (GRCm39) |
S208T |
possibly damaging |
Het |
Hmgcr |
G |
A |
13: 96,793,240 (GRCm39) |
A464V |
probably benign |
Het |
Igkv2-109 |
A |
G |
6: 68,280,069 (GRCm39) |
T97A |
possibly damaging |
Het |
Ino80 |
G |
T |
2: 119,262,426 (GRCm39) |
Q687K |
probably damaging |
Het |
Kdm4d |
T |
C |
9: 14,375,409 (GRCm39) |
N150D |
probably damaging |
Het |
Klf4 |
A |
G |
4: 55,530,481 (GRCm39) |
I210T |
possibly damaging |
Het |
Klkb1 |
C |
A |
8: 45,723,734 (GRCm39) |
Q560H |
probably benign |
Het |
Lce1a2 |
A |
T |
3: 92,576,442 (GRCm39) |
V40E |
unknown |
Het |
Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
Mipol1 |
C |
T |
12: 57,543,285 (GRCm39) |
T393I |
probably benign |
Het |
Mst1 |
A |
G |
9: 107,959,446 (GRCm39) |
D244G |
probably damaging |
Het |
Nexn |
G |
A |
3: 151,949,525 (GRCm39) |
R258C |
probably damaging |
Het |
Optc |
T |
C |
1: 133,828,715 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,861,221 (GRCm39) |
N282S |
probably damaging |
Het |
Or11h23 |
A |
C |
14: 50,948,371 (GRCm39) |
I195L |
probably benign |
Het |
Or6c207 |
A |
G |
10: 129,104,535 (GRCm39) |
I219T |
probably damaging |
Het |
Or7a37 |
A |
G |
10: 78,806,037 (GRCm39) |
I185V |
probably benign |
Het |
Pabpc2 |
C |
A |
18: 39,908,436 (GRCm39) |
P567Q |
probably benign |
Het |
Pierce2 |
T |
A |
9: 72,887,175 (GRCm39) |
R111* |
probably null |
Het |
Ppm1j |
A |
G |
3: 104,691,990 (GRCm39) |
H324R |
possibly damaging |
Het |
Reg3g |
A |
T |
6: 78,443,544 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
Ski |
T |
C |
4: 155,243,849 (GRCm39) |
T554A |
probably benign |
Het |
Slfn5 |
G |
A |
11: 82,852,522 (GRCm39) |
V883M |
probably benign |
Het |
Stradb |
T |
C |
1: 59,030,333 (GRCm39) |
|
probably benign |
Het |
Tex19.1 |
A |
G |
11: 121,038,625 (GRCm39) |
T328A |
probably benign |
Het |
Tpsab1 |
T |
C |
17: 25,564,373 (GRCm39) |
N27S |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,643,244 (GRCm39) |
L13225Q |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,843 (GRCm39) |
T229A |
probably benign |
Het |
Wapl |
A |
G |
14: 34,446,711 (GRCm39) |
K600E |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,955,978 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cyp2c66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01145:Cyp2c66
|
APN |
19 |
39,159,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01589:Cyp2c66
|
APN |
19 |
39,172,379 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02098:Cyp2c66
|
APN |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02114:Cyp2c66
|
APN |
19 |
39,159,519 (GRCm39) |
splice site |
probably benign |
|
IGL02567:Cyp2c66
|
APN |
19 |
39,175,084 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03181:Cyp2c66
|
APN |
19 |
39,130,483 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03230:Cyp2c66
|
APN |
19 |
39,172,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0007:Cyp2c66
|
UTSW |
19 |
39,159,402 (GRCm39) |
nonsense |
probably null |
|
R0092:Cyp2c66
|
UTSW |
19 |
39,172,224 (GRCm39) |
splice site |
probably benign |
|
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Cyp2c66
|
UTSW |
19 |
39,165,135 (GRCm39) |
missense |
probably benign |
0.27 |
R0675:Cyp2c66
|
UTSW |
19 |
39,175,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1127:Cyp2c66
|
UTSW |
19 |
39,151,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3404:Cyp2c66
|
UTSW |
19 |
39,151,771 (GRCm39) |
missense |
probably benign |
|
R3429:Cyp2c66
|
UTSW |
19 |
39,151,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R3896:Cyp2c66
|
UTSW |
19 |
39,130,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4115:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4116:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4667:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Cyp2c66
|
UTSW |
19 |
39,151,843 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4960:Cyp2c66
|
UTSW |
19 |
39,151,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5070:Cyp2c66
|
UTSW |
19 |
39,151,914 (GRCm39) |
missense |
probably benign |
0.15 |
R5125:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6011:Cyp2c66
|
UTSW |
19 |
39,130,380 (GRCm39) |
missense |
probably benign |
0.00 |
R6497:Cyp2c66
|
UTSW |
19 |
39,151,821 (GRCm39) |
missense |
probably damaging |
0.96 |
R6707:Cyp2c66
|
UTSW |
19 |
39,174,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7173:Cyp2c66
|
UTSW |
19 |
39,159,401 (GRCm39) |
missense |
probably benign |
0.01 |
R7202:Cyp2c66
|
UTSW |
19 |
39,130,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Cyp2c66
|
UTSW |
19 |
39,172,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Cyp2c66
|
UTSW |
19 |
39,159,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R7985:Cyp2c66
|
UTSW |
19 |
39,102,430 (GRCm39) |
missense |
probably null |
1.00 |
R8012:Cyp2c66
|
UTSW |
19 |
39,172,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Cyp2c66
|
UTSW |
19 |
39,130,485 (GRCm39) |
missense |
probably benign |
0.00 |
R8302:Cyp2c66
|
UTSW |
19 |
39,165,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Cyp2c66
|
UTSW |
19 |
39,174,906 (GRCm39) |
nonsense |
probably null |
|
R8365:Cyp2c66
|
UTSW |
19 |
39,165,048 (GRCm39) |
missense |
probably benign |
0.00 |
R8472:Cyp2c66
|
UTSW |
19 |
39,165,021 (GRCm39) |
missense |
probably benign |
0.03 |
R8502:Cyp2c66
|
UTSW |
19 |
39,130,773 (GRCm39) |
missense |
probably benign |
0.01 |
R8688:Cyp2c66
|
UTSW |
19 |
39,151,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8715:Cyp2c66
|
UTSW |
19 |
39,159,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Cyp2c66
|
UTSW |
19 |
39,130,800 (GRCm39) |
missense |
probably benign |
0.16 |
R9551:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9552:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9601:Cyp2c66
|
UTSW |
19 |
39,175,054 (GRCm39) |
missense |
probably benign |
|
R9777:Cyp2c66
|
UTSW |
19 |
39,102,520 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:Cyp2c66
|
UTSW |
19 |
39,175,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGTGTGGGCAAGACTTG -3'
(R):5'- AGTGAACAGTGTTCTAACAGCC -3'
Sequencing Primer
(F):5'- CAAGACTTGCTTAAATTGTGACCAG -3'
(R):5'- AACAGTGTTCTAACAGCCTTCATTTC -3'
|
Posted On |
2016-06-15 |