Incidental Mutation 'R6516:Cyp2c67'
| ID |
520769 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| MMRRC Submission |
044643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39597288-39637497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39605873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 341
(D341V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067328
AA Change: D341V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
8.5e-150 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
A |
T |
1: 161,780,235 (GRCm39) |
V93E |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,571,236 (GRCm39) |
Y1136N |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,836,427 (GRCm39) |
R43W |
probably damaging |
Het |
| Ano8 |
G |
T |
8: 71,934,424 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,429,766 (GRCm39) |
F370L |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,086,563 (GRCm39) |
V26A |
probably damaging |
Het |
| Cimap1a |
G |
A |
7: 140,428,718 (GRCm39) |
G128S |
probably damaging |
Het |
| Clec4a2 |
C |
A |
6: 123,116,365 (GRCm39) |
Q153K |
probably damaging |
Het |
| Ddo |
T |
A |
10: 40,507,741 (GRCm39) |
V46E |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,521,910 (GRCm39) |
M85R |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,212 (GRCm39) |
F2147L |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,518,178 (GRCm39) |
E1298G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,781,898 (GRCm39) |
V701E |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 62,996,607 (GRCm39) |
K447N |
probably benign |
Het |
| Eno2 |
G |
T |
6: 124,738,672 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,589,636 (GRCm39) |
H111Q |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,109,415 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,297,905 (GRCm39) |
T610A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,089 (GRCm39) |
D560E |
possibly damaging |
Het |
| Klc4 |
A |
T |
17: 46,953,181 (GRCm39) |
N116K |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,206 (GRCm39) |
Q656* |
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,122,069 (GRCm39) |
Y273C |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,957,996 (GRCm39) |
C938S |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,081,562 (GRCm39) |
E367G |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,492,972 (GRCm39) |
I214K |
probably damaging |
Het |
| Or4e2 |
A |
T |
14: 52,688,586 (GRCm39) |
T239S |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,114 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,768 (GRCm39) |
N65S |
probably damaging |
Het |
| Pikfyve |
G |
T |
1: 65,304,940 (GRCm39) |
M1697I |
probably benign |
Het |
| Plcd1 |
A |
G |
9: 118,905,271 (GRCm39) |
S147P |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,593,223 (GRCm39) |
P113L |
probably damaging |
Het |
| Pum3 |
C |
A |
19: 27,403,408 (GRCm39) |
S31I |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,821,241 (GRCm39) |
V1327A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,200 (GRCm39) |
|
noncoding transcript |
Het |
| Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,511,335 (GRCm39) |
S341P |
probably damaging |
Het |
| Sh3bp5 |
A |
T |
14: 31,097,629 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,930,027 (GRCm39) |
T443A |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,154,427 (GRCm39) |
Y81C |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,788,105 (GRCm39) |
T496A |
probably benign |
Het |
| Smap2 |
C |
T |
4: 120,840,303 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
A |
2: 119,878,431 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
G |
10: 23,847,564 (GRCm39) |
S321G |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,990,782 (GRCm39) |
I299V |
possibly damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,663,957 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Tmem176a |
T |
G |
6: 48,821,002 (GRCm39) |
|
probably null |
Het |
| Tmem236 |
T |
C |
2: 14,200,791 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,987 (GRCm39) |
V247M |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,901,071 (GRCm39) |
S1593P |
probably damaging |
Het |
| Ttc9b |
T |
A |
7: 27,355,412 (GRCm39) |
D227E |
probably benign |
Het |
| Usp33 |
A |
C |
3: 152,079,053 (GRCm39) |
Q435P |
probably benign |
Het |
| Vti1a |
C |
T |
19: 55,369,390 (GRCm39) |
A94V |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,052,992 (GRCm39) |
Y587H |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,129 (GRCm39) |
A739V |
probably benign |
Het |
| Zfp628 |
C |
G |
7: 4,923,201 (GRCm39) |
Y474* |
probably null |
Het |
| Zfp820 |
A |
T |
17: 22,038,354 (GRCm39) |
C325S |
probably damaging |
Het |
|
| Other mutations in Cyp2c67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Cyp2c67
|
APN |
19 |
39,631,829 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01025:Cyp2c67
|
APN |
19 |
39,628,376 (GRCm39) |
nonsense |
probably null |
|
|
IGL01363:Cyp2c67
|
APN |
19 |
39,628,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01819:Cyp2c67
|
APN |
19 |
39,604,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01902:Cyp2c67
|
APN |
19 |
39,637,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Cyp2c67
|
APN |
19 |
39,637,446 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02351:Cyp2c67
|
APN |
19 |
39,605,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Cyp2c67
|
APN |
19 |
39,605,826 (GRCm39) |
nonsense |
probably null |
|
|
IGL02355:Cyp2c67
|
APN |
19 |
39,631,849 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02358:Cyp2c67
|
APN |
19 |
39,605,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Cyp2c67
|
APN |
19 |
39,605,826 (GRCm39) |
nonsense |
probably null |
|
|
IGL02362:Cyp2c67
|
APN |
19 |
39,631,849 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02388:Cyp2c67
|
APN |
19 |
39,631,799 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03106:Cyp2c67
|
APN |
19 |
39,632,119 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03219:Cyp2c67
|
APN |
19 |
39,631,738 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03326:Cyp2c67
|
APN |
19 |
39,631,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03349:Cyp2c67
|
APN |
19 |
39,632,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Cyp2c67
|
APN |
19 |
39,628,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03052:Cyp2c67
|
UTSW |
19 |
39,637,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0585:Cyp2c67
|
UTSW |
19 |
39,627,138 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0975:Cyp2c67
|
UTSW |
19 |
39,597,622 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0976:Cyp2c67
|
UTSW |
19 |
39,631,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Cyp2c67
|
UTSW |
19 |
39,614,585 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1398:Cyp2c67
|
UTSW |
19 |
39,627,069 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1411:Cyp2c67
|
UTSW |
19 |
39,627,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Cyp2c67
|
UTSW |
19 |
39,637,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1543:Cyp2c67
|
UTSW |
19 |
39,631,708 (GRCm39) |
splice site |
probably benign |
|
|
R1613:Cyp2c67
|
UTSW |
19 |
39,614,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1618:Cyp2c67
|
UTSW |
19 |
39,631,708 (GRCm39) |
splice site |
probably benign |
|
|
R1667:Cyp2c67
|
UTSW |
19 |
39,632,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Cyp2c67
|
UTSW |
19 |
39,605,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2005:Cyp2c67
|
UTSW |
19 |
39,631,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Cyp2c67
|
UTSW |
19 |
39,614,681 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2181:Cyp2c67
|
UTSW |
19 |
39,597,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3817:Cyp2c67
|
UTSW |
19 |
39,627,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4669:Cyp2c67
|
UTSW |
19 |
39,632,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4689:Cyp2c67
|
UTSW |
19 |
39,627,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4756:Cyp2c67
|
UTSW |
19 |
39,632,188 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4823:Cyp2c67
|
UTSW |
19 |
39,604,168 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5152:Cyp2c67
|
UTSW |
19 |
39,627,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5345:Cyp2c67
|
UTSW |
19 |
39,614,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5580:Cyp2c67
|
UTSW |
19 |
39,604,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Cyp2c67
|
UTSW |
19 |
39,604,138 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6116:Cyp2c67
|
UTSW |
19 |
39,605,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Cyp2c67
|
UTSW |
19 |
39,605,854 (GRCm39) |
nonsense |
probably null |
|
|
R6939:Cyp2c67
|
UTSW |
19 |
39,631,778 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6995:Cyp2c67
|
UTSW |
19 |
39,604,123 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7028:Cyp2c67
|
UTSW |
19 |
39,628,341 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7144:Cyp2c67
|
UTSW |
19 |
39,604,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7242:Cyp2c67
|
UTSW |
19 |
39,605,783 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7335:Cyp2c67
|
UTSW |
19 |
39,628,451 (GRCm39) |
nonsense |
probably null |
|
|
R7337:Cyp2c67
|
UTSW |
19 |
39,597,708 (GRCm39) |
splice site |
probably null |
|
|
R7474:Cyp2c67
|
UTSW |
19 |
39,605,876 (GRCm39) |
missense |
probably null |
0.05 |
|
R7642:Cyp2c67
|
UTSW |
19 |
39,604,084 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7870:Cyp2c67
|
UTSW |
19 |
39,597,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Cyp2c67
|
UTSW |
19 |
39,628,452 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8367:Cyp2c67
|
UTSW |
19 |
39,627,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8717:Cyp2c67
|
UTSW |
19 |
39,627,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8728:Cyp2c67
|
UTSW |
19 |
39,614,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Cyp2c67
|
UTSW |
19 |
39,597,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Cyp2c67
|
UTSW |
19 |
39,597,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9376:Cyp2c67
|
UTSW |
19 |
39,627,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2c67
|
UTSW |
19 |
39,632,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCTTTCTCAGTGGTGAACC -3'
(R):5'- TGTTCAAAATGTTTCTGGGCC -3'
Sequencing Primer
(F):5'- CTGGAATCACACTGAAACAGGG -3'
(R):5'- AAAATGTTTCTGGGCCACTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation