Incidental Mutation 'R7642:Cyp2c67'
| ID |
590322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| MMRRC Submission |
045645-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39597288-39637497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39604084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 424
(Y424C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067328
AA Change: Y424C
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: Y424C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
T |
C |
13: 94,613,540 (GRCm39) |
S680P |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,251,189 (GRCm39) |
T844A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,659,512 (GRCm39) |
D781E |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,638 (GRCm39) |
M537V |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,415,248 (GRCm39) |
M1497T |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,135,192 (GRCm39) |
I1655F |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,589 (GRCm39) |
S16P |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,672,741 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,248,125 (GRCm39) |
|
probably null |
Het |
| Dpp4 |
A |
G |
2: 62,190,627 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
G |
15: 71,350,991 (GRCm39) |
N295T |
possibly damaging |
Het |
| Fign |
A |
G |
2: 63,810,916 (GRCm39) |
V118A |
probably benign |
Het |
| Gpr108 |
A |
T |
17: 57,543,228 (GRCm39) |
Y480* |
probably null |
Het |
| Ky |
T |
C |
9: 102,419,469 (GRCm39) |
V492A |
probably benign |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc30 |
C |
T |
17: 67,939,472 (GRCm39) |
G36E |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,466 (GRCm39) |
V452A |
probably benign |
Het |
| Mks1 |
C |
T |
11: 87,747,666 (GRCm39) |
T183M |
possibly damaging |
Het |
| Mpg |
G |
A |
11: 32,179,517 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
G |
2: 103,557,131 (GRCm39) |
L841P |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,316,386 (GRCm39) |
E1863G |
probably benign |
Het |
| Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
| Nr2e3 |
T |
A |
9: 59,854,671 (GRCm39) |
I292F |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,163,285 (GRCm39) |
Y246C |
probably damaging |
Het |
| Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,313,823 (GRCm39) |
F44S |
probably damaging |
Het |
| Or5ac15 |
T |
G |
16: 58,940,011 (GRCm39) |
T141P |
possibly damaging |
Het |
| Or5h26 |
A |
G |
16: 58,988,080 (GRCm39) |
V142A |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,660 (GRCm39) |
L166* |
probably null |
Het |
| Pcdha5 |
T |
A |
18: 37,093,544 (GRCm39) |
F18I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,779 (GRCm39) |
K190E |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Ppm1g |
G |
T |
5: 31,362,447 (GRCm39) |
Y284* |
probably null |
Het |
| Rp1 |
A |
G |
1: 4,218,054 (GRCm39) |
V1026A |
unknown |
Het |
| Scap |
C |
T |
9: 110,203,081 (GRCm39) |
R252C |
probably damaging |
Het |
| Scn9a |
C |
A |
2: 66,366,580 (GRCm39) |
K734N |
probably benign |
Het |
| Sema5a |
C |
T |
15: 32,682,471 (GRCm39) |
S955F |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,456,831 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
A |
G |
4: 137,986,467 (GRCm39) |
T397A |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,587,409 (GRCm39) |
F490L |
probably benign |
Het |
| Tbc1d19 |
A |
T |
5: 54,014,260 (GRCm39) |
Y296F |
probably damaging |
Het |
| Tmppe |
T |
C |
9: 114,233,862 (GRCm39) |
S54P |
possibly damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,795 (GRCm39) |
N229I |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,987,624 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,550,480 (GRCm39) |
M835K |
possibly damaging |
Het |
| Wscd2 |
A |
T |
5: 113,715,475 (GRCm39) |
K438N |
possibly damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,900,678 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
T |
A |
9: 95,903,906 (GRCm39) |
F1148I |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
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 |
|
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 |
|
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'- GGCATGAACACAGTGAATCC -3'
(R):5'- GGAGAACAATGTTCAGCACCC -3'
Sequencing Primer
(F):5'- TCTGGCAAGAAAATGTGTCATCG -3'
(R):5'- GCACCCTGAGACATTCATACATTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation