Incidental Mutation 'R8365:Cyp2c66'
| ID |
646160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| MMRRC Submission |
067736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39165048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 343
(H343L)
|
| 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: H343L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: H343L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,557,918 (GRCm39) |
C79* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,544,798 (GRCm39) |
S1430T |
probably benign |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,378 (GRCm39) |
K1724R |
possibly damaging |
Het |
| Brf2 |
A |
G |
8: 27,618,566 (GRCm39) |
S13P |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,263,000 (GRCm39) |
K18* |
probably null |
Het |
| Cym |
T |
G |
3: 107,120,182 (GRCm39) |
I306L |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,504,874 (GRCm39) |
Y62C |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,570 (GRCm39) |
S533P |
probably benign |
Het |
| Dnajc10 |
A |
G |
2: 80,176,902 (GRCm39) |
Y619C |
probably damaging |
Het |
| Dnal1 |
T |
A |
12: 84,178,163 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,502,277 (GRCm39) |
M914K |
probably damaging |
Het |
| Epb41l2 |
C |
A |
10: 25,317,584 (GRCm39) |
Q34K |
probably benign |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,980,739 (GRCm39) |
I238S |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,307,727 (GRCm39) |
K204E |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,303,434 (GRCm39) |
S279L |
probably benign |
Het |
| Hhatl |
A |
G |
9: 121,618,931 (GRCm39) |
M67T |
probably damaging |
Het |
| Itpkc |
C |
A |
7: 26,911,777 (GRCm39) |
R598L |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,329 (GRCm39) |
N73K |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 57,998,311 (GRCm39) |
I263N |
probably damaging |
Het |
| Map1a |
T |
A |
2: 121,138,528 (GRCm39) |
M3002K |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,709 (GRCm39) |
S588T |
possibly damaging |
Het |
| Pcdh8 |
T |
A |
14: 80,008,426 (GRCm39) |
I46F |
probably damaging |
Het |
| Prdm6 |
T |
C |
18: 53,685,137 (GRCm39) |
V392A |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,743,451 (GRCm39) |
I497F |
probably benign |
Het |
| Rorc |
A |
G |
3: 94,282,366 (GRCm39) |
H22R |
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,246,241 (GRCm39) |
I777V |
possibly damaging |
Het |
| Shroom1 |
A |
T |
11: 53,356,468 (GRCm39) |
R444* |
probably null |
Het |
| Srcap |
C |
T |
7: 127,148,869 (GRCm39) |
T2030I |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,793,695 (GRCm39) |
S94P |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,054,669 (GRCm39) |
T325I |
probably damaging |
Het |
| Ucp1 |
A |
C |
8: 84,020,628 (GRCm39) |
H146P |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,200 (GRCm39) |
I272N |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,034 (GRCm39) |
S127P |
possibly damaging |
Het |
| Vtcn1 |
A |
G |
3: 100,791,145 (GRCm39) |
D61G |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,227 (GRCm39) |
C241S |
probably damaging |
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 |
|
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 |
|
|
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'- ACAGCAACTGTCACTTCATTAGC -3'
(R):5'- TGGGCAAGTGATCTAGTTTCAC -3'
Sequencing Primer
(F):5'- TACAAGTGACCCCGAGTT -3'
(R):5'- CTCACTCTAATTTGAGATCAAGAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation