Incidental Mutation 'R6497:Cyp2c66'
| ID |
523088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| MMRRC Submission |
044629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6497 (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 A
at 39151821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 179
(C179S)
|
| 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: C179S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: C179S
| 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 |
|
| Meta Mutation Damage Score |
0.2602 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
| Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
| Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
| Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
| Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
| Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
| Gad2 |
C |
T |
2: 22,558,269 (GRCm39) |
P329L |
probably damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
| Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
| Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
| Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
| Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
| Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
| Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
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 |
|
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'- AGTGAACAGTGTTCTAACAGCCTTC -3'
Sequencing Primer
(F):5'- CAAGACTTGCTTAAATTGTGACCAG -3'
(R):5'- AACAGTGTTCTAACAGCCTTCATTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation