Incidental Mutation 'R1505:Cyp2c67'
| ID |
169144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39597288-39637497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39637408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 23
(R23G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067328
AA Change: R23G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: R23G
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
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 |
|
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 |
|
R6516:Cyp2c67
|
UTSW |
19 |
39,605,873 (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'- tcggaggaccaacaacaCAAAATAATAGAA -3'
(R):5'- CCCAAATGTCTTACAGGCACTCTACAA -3'
Sequencing Primer
(F):5'- GAGTCTTCAATCTGAAACTTAGAGC -3'
(R):5'- TTGAGACAAAGTCCATTTGGAAGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation