Incidental Mutation 'R8012:Cyp2c66'
| ID |
616971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| MMRRC Submission |
046052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39172369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 428
(F428S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087234]
[ENSMUST00000146494]
|
| AlphaFold |
Q5GLZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087234
AA Change: F428S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: F428S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
| Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
| Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
| Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
| Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
| Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
| Mcrs1 |
C |
A |
15: 99,147,766 (GRCm39) |
S47I |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
| Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
| Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
| Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
| Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
| Wdr86 |
A |
G |
5: 24,935,177 (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 |
|
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 |
|
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'- TGGAATTAAAGGTGTGTGCCAC -3'
(R):5'- CCCTAAGGGTTCGATAATGACACA -3'
Sequencing Primer
(F):5'- TGTGTGCCACCATGCCTG -3'
(R):5'- GACACACATGCATCTTGTTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation