Incidental Mutation 'R4115:Cyp2c66'
| ID |
314617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| MMRRC Submission |
041630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4115 (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 39165003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 328
(D328G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087234]
[ENSMUST00000146494]
|
| AlphaFold |
Q5GLZ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087234
AA Change: D328G
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: D328G
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| BC035044 |
C |
T |
6: 128,867,813 (GRCm39) |
|
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,567,300 (GRCm39) |
M626V |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 110,066,039 (GRCm39) |
R771Q |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,248,343 (GRCm39) |
I850L |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,805,678 (GRCm39) |
L2163Q |
probably damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,458,957 (GRCm39) |
N26S |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Gnl3 |
T |
G |
14: 30,738,813 (GRCm39) |
K79Q |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,271,566 (GRCm39) |
T380A |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Ighv11-1 |
A |
G |
12: 113,945,685 (GRCm39) |
V56A |
probably benign |
Het |
| Ism2 |
A |
G |
12: 87,333,805 (GRCm39) |
I80T |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,980,260 (GRCm39) |
E823V |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,070,343 (GRCm39) |
K432* |
probably null |
Het |
| LTO1 |
G |
A |
7: 144,473,383 (GRCm39) |
V142M |
possibly damaging |
Het |
| Mc4r |
T |
A |
18: 66,993,050 (GRCm39) |
Y21F |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mycbpap |
C |
A |
11: 94,403,051 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,286 (GRCm39) |
M129T |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,377,407 (GRCm39) |
C223F |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,613,109 (GRCm39) |
V606A |
possibly damaging |
Het |
| Nudcd2 |
T |
C |
11: 40,627,434 (GRCm39) |
M118T |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,797 (GRCm39) |
L115Q |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,410,783 (GRCm39) |
D1870N |
unknown |
Het |
| Pde3b |
T |
C |
7: 114,120,962 (GRCm39) |
F696L |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
C |
T |
4: 99,819,348 (GRCm39) |
Q191* |
probably null |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,419,905 (GRCm39) |
S5P |
probably damaging |
Het |
| Reps1 |
C |
T |
10: 17,979,955 (GRCm39) |
P397S |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Spata13 |
G |
T |
14: 60,929,927 (GRCm39) |
G168V |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,923 (GRCm39) |
W2117R |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,299 (GRCm39) |
L607S |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,809,921 (GRCm39) |
W1106R |
probably damaging |
Het |
| Tssk3 |
T |
C |
4: 129,383,300 (GRCm39) |
Y124C |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,273 (GRCm39) |
W29R |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,332 (GRCm39) |
F76L |
probably benign |
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 |
|
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 |
|
R5113:Cyp2c66
|
UTSW |
19 |
39,151,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGCATATCACAGCAACTGTCAC -3'
(R):5'- TGGGCAAGTGATCTAGTTTCAC -3'
Sequencing Primer
(F):5'- TCACAGCAACTGTCACTTCATTAG -3'
(R):5'- TGTAGAAGAAGGACGCTTACCTTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation