Incidental Mutation 'R9376:Cyp2c67'
| ID |
709656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R9376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
39597288-39637497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39627178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 217
(N217K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067328
AA Change: N217K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: N217K
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,438 (GRCm39) |
L1296H |
probably damaging |
Het |
| Abcb4 |
A |
T |
5: 9,008,988 (GRCm39) |
D1215V |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,025 (GRCm39) |
I244L |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,332,250 (GRCm39) |
V58D |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,496,782 (GRCm39) |
L789S |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,863,290 (GRCm39) |
V129A |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,410 (GRCm39) |
S193P |
possibly damaging |
Het |
| Clpb |
A |
T |
7: 101,360,625 (GRCm39) |
R218S |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,875,258 (GRCm39) |
S231G |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,639,591 (GRCm39) |
Y574H |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,709,523 (GRCm39) |
R2498H |
unknown |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,594 (GRCm39) |
V108A |
probably damaging |
Het |
| Dao |
T |
A |
5: 114,147,901 (GRCm39) |
M1K |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,414,981 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
T |
9: 64,819,974 (GRCm39) |
I1809L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,568,058 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,086,720 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,080,719 (GRCm39) |
S267P |
probably damaging |
Het |
| Gm17732 |
G |
T |
18: 62,795,936 (GRCm39) |
V41L |
probably damaging |
Het |
| Gpaa1 |
C |
A |
15: 76,218,826 (GRCm39) |
T556K |
possibly damaging |
Het |
| Gpr65 |
T |
A |
12: 98,241,523 (GRCm39) |
S59T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,124,695 (GRCm39) |
V568A |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,221 (GRCm39) |
D144G |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,107,112 (GRCm39) |
H993R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,935 (GRCm39) |
L1075P |
possibly damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,638 (GRCm39) |
V120E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,970,718 (GRCm39) |
S1762P |
probably damaging |
Het |
| Krt80 |
T |
A |
15: 101,247,978 (GRCm39) |
T221S |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,994,620 (GRCm39) |
D1763G |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,670,286 (GRCm39) |
D606G |
probably benign |
Het |
| Map6d1 |
T |
C |
16: 20,059,933 (GRCm39) |
D44G |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,072,372 (GRCm39) |
I282K |
probably benign |
Het |
| Nalcn |
G |
A |
14: 123,515,713 (GRCm39) |
T1696M |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,924,244 (GRCm39) |
V1591A |
probably benign |
Het |
| Oas1f |
C |
A |
5: 120,986,243 (GRCm39) |
Y65* |
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,662 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,683 (GRCm39) |
T163S |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,746,971 (GRCm39) |
T8S |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,471 (GRCm39) |
I102K |
possibly damaging |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Pigyl |
A |
G |
9: 22,069,324 (GRCm39) |
I12V |
probably benign |
Het |
| Pno1 |
A |
T |
11: 17,158,791 (GRCm39) |
D202E |
probably benign |
Het |
| Ppp5c |
A |
T |
7: 16,743,849 (GRCm39) |
M195K |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,598 (GRCm39) |
F1905Y |
possibly damaging |
Het |
| Ptpn11 |
C |
A |
5: 121,282,681 (GRCm39) |
D435Y |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,164 (GRCm39) |
Y140C |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,225 (GRCm39) |
E339G |
possibly damaging |
Het |
| Scube3 |
G |
T |
17: 28,383,670 (GRCm39) |
K480N |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,910,469 (GRCm39) |
M313K |
probably benign |
Het |
| Tcaim |
T |
C |
9: 122,655,995 (GRCm39) |
W304R |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,514 (GRCm39) |
T134I |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,744,528 (GRCm39) |
T282A |
probably benign |
Het |
| Tnfrsf18 |
G |
T |
4: 156,112,448 (GRCm39) |
A102S |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Triqk |
A |
G |
4: 12,962,987 (GRCm39) |
T9A |
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,013 (GRCm39) |
S203N |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,561,128 (GRCm39) |
V573I |
unknown |
Het |
| Zfhx4 |
A |
G |
3: 5,306,833 (GRCm39) |
K20E |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,395 (GRCm39) |
D1876G |
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 |
|
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 |
|
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 |
|
Z1177:Cyp2c67
|
UTSW |
19 |
39,632,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGAACTCTACAGTCCATGAC -3'
(R):5'- GGTTATTCAAACGTGTAGAACAGAG -3'
Sequencing Primer
(F):5'- TGAACTCTACAGTCCATGACAAGTC -3'
(R):5'- ACACTCAAAAGATATGTGAGTGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation