Incidental Mutation 'R8688:Cyp2c66'
| ID |
668276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c66
|
| Ensembl Gene |
ENSMUSG00000067229 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
| Synonyms |
2010301M18Rik |
| MMRRC Submission |
068543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39151884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 200
(I200F)
|
| 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: I200F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084487
Gene: ENSMUSG00000067229
AA Change: I200F
| 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: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,183 (GRCm39) |
T256I |
probably damaging |
Het |
| 2700097O09Rik |
C |
T |
12: 55,104,136 (GRCm39) |
G161D |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,352,961 (GRCm39) |
A333V |
probably damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,166,263 (GRCm39) |
S209R |
|
Het |
| Akr1c18 |
T |
C |
13: 4,187,194 (GRCm39) |
K207E |
possibly damaging |
Het |
| Anapc1 |
T |
G |
2: 128,527,748 (GRCm39) |
Q70P |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,680,615 (GRCm39) |
E585G |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,271,343 (GRCm39) |
S1309A |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,240,307 (GRCm39) |
R14G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,090,066 (GRCm39) |
Y745N |
|
Het |
| Ccdc150 |
A |
C |
1: 54,407,132 (GRCm39) |
Q1058H |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,510 (GRCm39) |
F74S |
probably damaging |
Het |
| CK137956 |
C |
T |
4: 127,844,739 (GRCm39) |
E335K |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,659,984 (GRCm39) |
W412R |
unknown |
Het |
| Dsel |
A |
T |
1: 111,790,468 (GRCm39) |
C22* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,868,685 (GRCm39) |
M949T |
unknown |
Het |
| Gcc1 |
A |
T |
6: 28,418,739 (GRCm39) |
Y531* |
probably null |
Het |
| Gm10277 |
T |
C |
11: 77,676,405 (GRCm39) |
R189G |
unknown |
Het |
| Gm17078 |
T |
A |
14: 51,848,687 (GRCm39) |
R17* |
probably null |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Grip1 |
A |
G |
10: 119,835,809 (GRCm39) |
I502V |
probably benign |
Het |
| H2-M9 |
A |
T |
17: 36,953,034 (GRCm39) |
V91D |
probably damaging |
Het |
| Hcls1 |
T |
C |
16: 36,781,821 (GRCm39) |
L310P |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,169,584 (GRCm39) |
I8F |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Ildr2 |
A |
T |
1: 166,097,102 (GRCm39) |
D107V |
probably damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,640 (GRCm39) |
W126R |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,850,578 (GRCm39) |
D912V |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,161,383 (GRCm39) |
I765M |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,312,550 (GRCm39) |
E579G |
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,931,654 (GRCm39) |
N19S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,946,909 (GRCm39) |
Y4075C |
probably damaging |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or4k40 |
C |
T |
2: 111,250,958 (GRCm39) |
V113I |
probably benign |
Het |
| Or8b51 |
T |
A |
9: 38,569,047 (GRCm39) |
I214L |
probably benign |
Het |
| Orm1 |
G |
A |
4: 63,264,578 (GRCm39) |
V167M |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,990,034 (GRCm39) |
N688D |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,631,012 (GRCm39) |
K219E |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,838,310 (GRCm39) |
T1683A |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,554,022 (GRCm39) |
Q815L |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,472,968 (GRCm39) |
Y725N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,416,628 (GRCm39) |
I1495F |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,356,047 (GRCm39) |
V229A |
possibly damaging |
Het |
| Siglech |
A |
G |
7: 55,418,362 (GRCm39) |
D110G |
probably benign |
Het |
| St8sia2 |
A |
T |
7: 73,593,092 (GRCm39) |
D321E |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,709,425 (GRCm39) |
|
probably benign |
Het |
| Tbccd1 |
A |
T |
16: 22,641,208 (GRCm39) |
S390T |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,566,802 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
A |
15: 27,748,324 (GRCm39) |
N2443Y |
possibly damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,577 (GRCm39) |
M62I |
probably benign |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,240 (GRCm39) |
D402G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,004,069 (GRCm39) |
N94S |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,549 (GRCm39) |
S470R |
possibly damaging |
Het |
| Xrra1 |
A |
G |
7: 99,555,752 (GRCm39) |
E373G |
probably damaging |
Het |
| Zfp335 |
A |
G |
2: 164,734,113 (GRCm39) |
Y1329H |
probably damaging |
Het |
| Zfp689 |
C |
A |
7: 127,044,084 (GRCm39) |
C182F |
probably benign |
Het |
| Zfp933 |
T |
A |
4: 147,911,249 (GRCm39) |
S116C |
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 |
|
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 |
|
|
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 |
|
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'- CAAGACTTGCTTAAATTGTGACCAG -3'
(R):5'- AGTGAACAGTGTTCTAACAGCC -3'
Sequencing Primer
(F):5'- GTGACCAGTTTCTTTATCTGTTGAG -3'
(R):5'- AACAGTGTTCTAACAGCCTTCATTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation