Incidental Mutation 'R6939:Cyp2c67'
| ID |
540472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| MMRRC Submission |
045053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39608842-39649051 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39643334 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067328
AA Change: T140A
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: T140A
| 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: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
A |
13: 59,742,058 (GRCm38) |
K231N |
possibly damaging |
Het |
| 2810403A07Rik |
T |
A |
3: 88,686,517 (GRCm38) |
M71K |
probably damaging |
Het |
| A1bg |
G |
A |
15: 60,920,395 (GRCm38) |
P128L |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,778,455 (GRCm38) |
V401A |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,686,920 (GRCm38) |
N93K |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,512,801 (GRCm38) |
|
probably null |
Het |
| Camk2a |
A |
G |
18: 60,958,154 (GRCm38) |
E236G |
probably damaging |
Het |
| Casc1 |
A |
G |
6: 145,175,219 (GRCm38) |
F625L |
possibly damaging |
Het |
| Cav2 |
C |
A |
6: 17,281,411 (GRCm38) |
D17E |
possibly damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,376,265 (GRCm38) |
S520G |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,106,538 (GRCm38) |
H674Q |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,453,754 (GRCm38) |
|
probably benign |
Het |
| Cntnap1 |
A |
C |
11: 101,186,511 (GRCm38) |
I1000L |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 134,364,479 (GRCm38) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,541,497 (GRCm38) |
Q131K |
probably benign |
Het |
| Dmpk |
T |
A |
7: 19,088,224 (GRCm38) |
V369E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,106,562 (GRCm38) |
W1503R |
probably damaging |
Het |
| Dok2 |
T |
C |
14: 70,775,605 (GRCm38) |
V71A |
probably benign |
Het |
| Dqx1 |
A |
T |
6: 83,059,465 (GRCm38) |
Q150L |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,066,740 (GRCm38) |
I740T |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,252,474 (GRCm38) |
W4183* |
probably null |
Het |
| Fkrp |
C |
T |
7: 16,811,826 (GRCm38) |
R37Q |
probably benign |
Het |
| Frem3 |
A |
G |
8: 80,615,145 (GRCm38) |
K1356E |
probably benign |
Het |
| Fus |
A |
T |
7: 127,972,569 (GRCm38) |
|
probably benign |
Het |
| Gabarapl2 |
C |
A |
8: 111,942,569 (GRCm38) |
S53* |
probably null |
Het |
| Gjc1 |
A |
C |
11: 102,800,907 (GRCm38) |
M90R |
probably damaging |
Het |
| Gm30083 |
C |
T |
14: 34,003,600 (GRCm38) |
|
probably null |
Het |
| Gm7356 |
T |
A |
17: 14,001,125 (GRCm38) |
Y214F |
probably benign |
Het |
| Hexdc |
A |
T |
11: 121,222,338 (GRCm38) |
D533V |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,257,586 (GRCm38) |
A1364V |
probably damaging |
Het |
| Ighmbp2 |
A |
T |
19: 3,276,907 (GRCm38) |
F186Y |
probably damaging |
Het |
| Inpp5e |
C |
A |
2: 26,407,762 (GRCm38) |
|
probably null |
Het |
| Iqcb1 |
A |
G |
16: 36,839,912 (GRCm38) |
T146A |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,198,316 (GRCm38) |
Y222C |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,406,762 (GRCm38) |
W284R |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,765,561 (GRCm38) |
*952R |
probably null |
Het |
| Ldlrap1 |
C |
A |
4: 134,767,974 (GRCm38) |
|
probably benign |
Het |
| Mpdu1 |
G |
A |
11: 69,658,055 (GRCm38) |
|
probably benign |
Het |
| Mrgprh |
A |
T |
17: 12,876,935 (GRCm38) |
T21S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,638,537 (GRCm38) |
T5487S |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,183,737 (GRCm38) |
|
probably null |
Het |
| Napa |
T |
C |
7: 16,115,257 (GRCm38) |
C241R |
possibly damaging |
Het |
| Olfr181 |
A |
T |
16: 58,926,285 (GRCm38) |
Y95* |
probably null |
Het |
| Olfr479 |
C |
A |
7: 108,055,105 (GRCm38) |
A41E |
possibly damaging |
Het |
| Olfr964-ps1 |
T |
C |
9: 39,686,891 (GRCm38) |
T18A |
possibly damaging |
Het |
| Pla2g4f |
A |
T |
2: 120,307,301 (GRCm38) |
L326Q |
probably damaging |
Het |
| Pramef25 |
T |
C |
4: 143,948,796 (GRCm38) |
T487A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,837,291 (GRCm38) |
Y1029N |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,459,514 (GRCm38) |
T707A |
possibly damaging |
Het |
| Raet1e |
T |
A |
10: 22,174,357 (GRCm38) |
M13K |
possibly damaging |
Het |
| Rftn2 |
T |
C |
1: 55,194,349 (GRCm38) |
|
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,409,355 (GRCm38) |
I473V |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,838,069 (GRCm38) |
F186L |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 29,052,326 (GRCm38) |
M3672L |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 80,705,320 (GRCm38) |
C890S |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,485,599 (GRCm38) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,347,997 (GRCm38) |
N1530S |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,553,496 (GRCm38) |
R106H |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,785,830 (GRCm38) |
S54G |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,663,878 (GRCm38) |
V41A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 64,268,297 (GRCm38) |
T462A |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,907,099 (GRCm38) |
T61A |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,727,969 (GRCm38) |
N17D |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,879,048 (GRCm38) |
C514* |
probably null |
Het |
| Zfp866 |
G |
T |
8: 69,766,221 (GRCm38) |
Q250K |
probably damaging |
Het |
|
| Other mutations in Cyp2c67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Cyp2c67
|
APN |
19 |
39,643,385 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01025:Cyp2c67
|
APN |
19 |
39,639,932 (GRCm38) |
nonsense |
probably null |
|
|
IGL01363:Cyp2c67
|
APN |
19 |
39,639,967 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01819:Cyp2c67
|
APN |
19 |
39,615,721 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01902:Cyp2c67
|
APN |
19 |
39,649,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02172:Cyp2c67
|
APN |
19 |
39,649,002 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02351:Cyp2c67
|
APN |
19 |
39,617,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02355:Cyp2c67
|
APN |
19 |
39,617,382 (GRCm38) |
nonsense |
probably null |
|
|
IGL02355:Cyp2c67
|
APN |
19 |
39,643,405 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02358:Cyp2c67
|
APN |
19 |
39,617,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02362:Cyp2c67
|
APN |
19 |
39,617,382 (GRCm38) |
nonsense |
probably null |
|
|
IGL02362:Cyp2c67
|
APN |
19 |
39,643,405 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL02388:Cyp2c67
|
APN |
19 |
39,643,355 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL03106:Cyp2c67
|
APN |
19 |
39,643,675 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL03219:Cyp2c67
|
APN |
19 |
39,643,294 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL03326:Cyp2c67
|
APN |
19 |
39,643,269 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03349:Cyp2c67
|
APN |
19 |
39,643,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03356:Cyp2c67
|
APN |
19 |
39,639,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03052:Cyp2c67
|
UTSW |
19 |
39,648,885 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0585:Cyp2c67
|
UTSW |
19 |
39,638,694 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R0975:Cyp2c67
|
UTSW |
19 |
39,609,178 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0976:Cyp2c67
|
UTSW |
19 |
39,643,374 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1252:Cyp2c67
|
UTSW |
19 |
39,626,141 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1398:Cyp2c67
|
UTSW |
19 |
39,638,625 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1411:Cyp2c67
|
UTSW |
19 |
39,638,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1505:Cyp2c67
|
UTSW |
19 |
39,648,964 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1543:Cyp2c67
|
UTSW |
19 |
39,643,264 (GRCm38) |
splice site |
probably benign |
|
|
R1613:Cyp2c67
|
UTSW |
19 |
39,626,199 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1618:Cyp2c67
|
UTSW |
19 |
39,643,264 (GRCm38) |
splice site |
probably benign |
|
|
R1667:Cyp2c67
|
UTSW |
19 |
39,643,590 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1852:Cyp2c67
|
UTSW |
19 |
39,617,367 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2005:Cyp2c67
|
UTSW |
19 |
39,643,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Cyp2c67
|
UTSW |
19 |
39,626,237 (GRCm38) |
missense |
probably benign |
0.24 |
|
R2181:Cyp2c67
|
UTSW |
19 |
39,609,097 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R3817:Cyp2c67
|
UTSW |
19 |
39,638,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4669:Cyp2c67
|
UTSW |
19 |
39,643,654 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4689:Cyp2c67
|
UTSW |
19 |
39,638,588 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4756:Cyp2c67
|
UTSW |
19 |
39,643,744 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4823:Cyp2c67
|
UTSW |
19 |
39,615,724 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5152:Cyp2c67
|
UTSW |
19 |
39,638,688 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5345:Cyp2c67
|
UTSW |
19 |
39,626,232 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5580:Cyp2c67
|
UTSW |
19 |
39,615,650 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5644:Cyp2c67
|
UTSW |
19 |
39,615,694 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6116:Cyp2c67
|
UTSW |
19 |
39,617,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6516:Cyp2c67
|
UTSW |
19 |
39,617,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6550:Cyp2c67
|
UTSW |
19 |
39,617,410 (GRCm38) |
nonsense |
probably null |
|
|
R6995:Cyp2c67
|
UTSW |
19 |
39,615,679 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7028:Cyp2c67
|
UTSW |
19 |
39,639,897 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7144:Cyp2c67
|
UTSW |
19 |
39,615,694 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7242:Cyp2c67
|
UTSW |
19 |
39,617,339 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7335:Cyp2c67
|
UTSW |
19 |
39,640,007 (GRCm38) |
nonsense |
probably null |
|
|
R7337:Cyp2c67
|
UTSW |
19 |
39,609,264 (GRCm38) |
splice site |
probably null |
|
|
R7474:Cyp2c67
|
UTSW |
19 |
39,617,432 (GRCm38) |
missense |
probably null |
0.05 |
|
R7642:Cyp2c67
|
UTSW |
19 |
39,615,640 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7870:Cyp2c67
|
UTSW |
19 |
39,609,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8152:Cyp2c67
|
UTSW |
19 |
39,640,008 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8367:Cyp2c67
|
UTSW |
19 |
39,638,674 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8717:Cyp2c67
|
UTSW |
19 |
39,638,711 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8728:Cyp2c67
|
UTSW |
19 |
39,626,161 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9275:Cyp2c67
|
UTSW |
19 |
39,609,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9278:Cyp2c67
|
UTSW |
19 |
39,609,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9376:Cyp2c67
|
UTSW |
19 |
39,638,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Cyp2c67
|
UTSW |
19 |
39,643,679 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTACCTATACTCATGACATCTC -3'
(R):5'- GCAGTTTCCAGAGCAAGCTG -3'
Sequencing Primer
(F):5'- GAGAATCTGACCTGCACT -3'
(R):5'- AGAGTAGAGGTCATGCTTGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation