Incidental Mutation 'R8728:Cyp2c67'
ID |
662617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c67
|
Ensembl Gene |
ENSMUSG00000062624 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
Synonyms |
C730004C24Rik |
MMRRC Submission |
068576-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R8728 (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 G
at 39614605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 307
(R307S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
AlphaFold |
Q569X9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067328
AA Change: R307S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065796 Gene: ENSMUSG00000062624 AA Change: R307S
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: 99.1%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
G |
14: 66,295,086 (GRCm39) |
L253P |
probably damaging |
Het |
Adamts20 |
C |
T |
15: 94,229,281 (GRCm39) |
G946D |
probably benign |
Het |
Afdn |
A |
G |
17: 14,119,207 (GRCm39) |
R1648G |
probably damaging |
Het |
Ak9 |
G |
A |
10: 41,282,959 (GRCm39) |
A1242T |
|
Het |
Anxa9 |
T |
C |
3: 95,209,979 (GRCm39) |
K127E |
probably damaging |
Het |
Atp6v0a2 |
T |
C |
5: 124,796,152 (GRCm39) |
S739P |
probably benign |
Het |
Bloc1s6 |
A |
T |
2: 122,588,026 (GRCm39) |
M122L |
possibly damaging |
Het |
Bltp3b |
A |
T |
10: 89,618,582 (GRCm39) |
M274L |
probably benign |
Het |
Bms1 |
A |
G |
6: 118,369,331 (GRCm39) |
I990T |
possibly damaging |
Het |
Ccdc9b |
T |
C |
2: 118,587,793 (GRCm39) |
T514A |
probably benign |
Het |
Cdk14 |
G |
A |
5: 5,470,117 (GRCm39) |
|
silent |
Het |
Celsr3 |
T |
C |
9: 108,723,940 (GRCm39) |
L2899S |
probably benign |
Het |
Ces1b |
A |
T |
8: 93,798,576 (GRCm39) |
D203E |
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,473,365 (GRCm39) |
N753S |
probably benign |
Het |
Col19a1 |
C |
T |
1: 24,365,113 (GRCm39) |
G501R |
probably damaging |
Het |
Cym |
A |
G |
3: 107,125,991 (GRCm39) |
F91L |
possibly damaging |
Het |
Cyp3a59 |
G |
A |
5: 146,035,122 (GRCm39) |
|
probably null |
Het |
Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
Dagla |
G |
A |
19: 10,225,771 (GRCm39) |
R798C |
probably damaging |
Het |
Dcaf1 |
C |
T |
9: 106,724,005 (GRCm39) |
R478C |
possibly damaging |
Het |
Dcbld1 |
T |
C |
10: 52,109,929 (GRCm39) |
L28P |
probably benign |
Het |
Ddr2 |
T |
C |
1: 169,829,552 (GRCm39) |
D234G |
possibly damaging |
Het |
Fam83a |
T |
A |
15: 57,873,062 (GRCm39) |
M297K |
possibly damaging |
Het |
Galnt18 |
T |
A |
7: 111,119,243 (GRCm39) |
D426V |
probably damaging |
Het |
Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
T |
C |
5: 105,438,793 (GRCm39) |
I32V |
probably benign |
Het |
Gm9944 |
T |
C |
4: 144,179,601 (GRCm39) |
Y96C |
unknown |
Het |
Hdac1-ps |
A |
G |
17: 78,800,332 (GRCm39) |
K441R |
probably benign |
Het |
Impdh2 |
C |
T |
9: 108,437,562 (GRCm39) |
|
probably benign |
Het |
Iws1 |
G |
A |
18: 32,216,334 (GRCm39) |
R358Q |
probably damaging |
Het |
Kctd18 |
G |
T |
1: 58,002,289 (GRCm39) |
D179E |
probably damaging |
Het |
Krt13 |
T |
G |
11: 100,012,318 (GRCm39) |
S2R |
probably null |
Het |
Krt78 |
A |
T |
15: 101,856,225 (GRCm39) |
S529T |
probably benign |
Het |
Krtap4-7 |
C |
G |
11: 99,534,788 (GRCm39) |
C25S |
unknown |
Het |
Lama1 |
T |
C |
17: 68,125,663 (GRCm39) |
I2940T |
|
Het |
Lmnb2 |
A |
G |
10: 80,740,913 (GRCm39) |
|
probably null |
Het |
Lrrc27 |
A |
T |
7: 138,822,555 (GRCm39) |
E482V |
probably damaging |
Het |
Lrrc72 |
G |
A |
12: 36,258,656 (GRCm39) |
T67M |
probably benign |
Het |
Malrd1 |
T |
A |
2: 15,701,753 (GRCm39) |
C789* |
probably null |
Het |
Mei1 |
T |
G |
15: 81,966,182 (GRCm39) |
V268G |
|
Het |
Mical3 |
C |
A |
6: 120,950,514 (GRCm39) |
A966S |
probably damaging |
Het |
Mmp10 |
C |
T |
9: 7,502,480 (GRCm39) |
P29L |
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,935,122 (GRCm39) |
F186L |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,754,952 (GRCm38) |
T1609S |
unknown |
Het |
Myrfl |
A |
T |
10: 116,634,545 (GRCm39) |
C616* |
probably null |
Het |
Ncor1 |
C |
T |
11: 62,221,685 (GRCm39) |
A946T |
probably benign |
Het |
Or10al6 |
C |
A |
17: 38,082,642 (GRCm39) |
L33M |
probably damaging |
Het |
Or2t48 |
T |
C |
11: 58,420,027 (GRCm39) |
T262A |
probably benign |
Het |
Pbp2 |
T |
C |
6: 135,287,104 (GRCm39) |
Y81C |
probably benign |
Het |
Plekhh1 |
C |
A |
12: 79,115,862 (GRCm39) |
Q802K |
possibly damaging |
Het |
Pnldc1 |
A |
T |
17: 13,116,165 (GRCm39) |
F279Y |
probably damaging |
Het |
Psmb5 |
A |
T |
14: 54,855,261 (GRCm39) |
L63Q |
probably damaging |
Het |
Rasa3 |
C |
T |
8: 13,636,873 (GRCm39) |
|
probably null |
Het |
Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,131,615 (GRCm39) |
S421P |
probably benign |
Het |
Sema5a |
T |
C |
15: 32,562,703 (GRCm39) |
V238A |
probably damaging |
Het |
Sesn1 |
G |
T |
10: 41,779,771 (GRCm39) |
G402W |
probably damaging |
Het |
Six4 |
A |
G |
12: 73,159,180 (GRCm39) |
V260A |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,831 (GRCm39) |
R1825Q |
unknown |
Het |
Stat1 |
G |
A |
1: 52,178,353 (GRCm39) |
W262* |
probably null |
Het |
Tcf20 |
A |
T |
15: 82,739,158 (GRCm39) |
D764E |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,962,065 (GRCm39) |
N585D |
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,133,821 (GRCm39) |
L1039H |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,974,934 (GRCm39) |
V86A |
probably benign |
Het |
Ttc39b |
A |
G |
4: 83,171,247 (GRCm39) |
I202T |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,412,460 (GRCm39) |
F124S |
probably benign |
Het |
Vwa7 |
T |
A |
17: 35,236,133 (GRCm39) |
F29Y |
probably damaging |
Het |
Wdr64 |
A |
T |
1: 175,559,079 (GRCm39) |
M281L |
probably benign |
Het |
Zfand2a |
C |
T |
5: 139,467,753 (GRCm39) |
V40M |
possibly damaging |
Het |
Zfp865 |
G |
C |
7: 5,034,819 (GRCm39) |
A935P |
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 |
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 |
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'- GCTTTTCAACTGCTCAGGTATC -3'
(R):5'- CTACACCACAGTCTCTGAAATGG -3'
Sequencing Primer
(F):5'- CAACTGCTCAGGTATCTTCATTTAC -3'
(R):5'- GCCACTGATGAACATTTTAGATTCTG -3'
|
Posted On |
2021-03-08 |