Incidental Mutation 'IGL02388:Cyp2c67'
| ID |
291609 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2c67
|
| Ensembl Gene |
ENSMUSG00000062624 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 67 |
| Synonyms |
C730004C24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39608842-39649051 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39643355 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 133
(N133D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067328]
|
| AlphaFold |
Q569X9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067328
AA Change: N133D
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: N133D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
8.5e-150 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930597O21Rik |
A |
T |
6: 66,896,113 (GRCm38) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 110,078,815 (GRCm38) |
|
probably benign |
Het |
| Asphd1 |
A |
T |
7: 126,946,712 (GRCm38) |
|
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,331,897 (GRCm38) |
A301V |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,953,753 (GRCm38) |
T135K |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 63,107,691 (GRCm38) |
D153E |
probably damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,202,228 (GRCm38) |
|
probably null |
Het |
| Dglucy |
T |
C |
12: 100,856,998 (GRCm38) |
I484T |
probably damaging |
Het |
| Dtna |
G |
T |
18: 23,597,514 (GRCm38) |
M319I |
probably benign |
Het |
| E2f5 |
T |
A |
3: 14,588,280 (GRCm38) |
M152K |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,641,666 (GRCm38) |
M58K |
probably damaging |
Het |
| Epha1 |
A |
G |
6: 42,365,016 (GRCm38) |
Y367H |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,781,799 (GRCm38) |
S32G |
possibly damaging |
Het |
| Fam114a1 |
A |
T |
5: 65,008,980 (GRCm38) |
|
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,290,378 (GRCm38) |
N281K |
probably benign |
Het |
| Galnt12 |
G |
T |
4: 47,117,941 (GRCm38) |
R412L |
probably damaging |
Het |
| Gm5786 |
T |
A |
12: 59,081,596 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9845 |
T |
C |
3: 39,358,467 (GRCm38) |
|
noncoding transcript |
Het |
| Hecw2 |
A |
G |
1: 53,925,699 (GRCm38) |
V656A |
probably benign |
Het |
| Hpse2 |
A |
T |
19: 43,294,253 (GRCm38) |
V187D |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,629,557 (GRCm38) |
M122K |
possibly damaging |
Het |
| Kcnj11 |
A |
G |
7: 46,099,789 (GRCm38) |
S37P |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,800,358 (GRCm38) |
I1491T |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 100,105,164 (GRCm38) |
K145* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,369,137 (GRCm38) |
I499V |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,271,610 (GRCm38) |
N311K |
probably damaging |
Het |
| Mical2 |
C |
A |
7: 112,335,413 (GRCm38) |
H880N |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,637,997 (GRCm38) |
C666* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,264,005 (GRCm38) |
R158H |
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,251,951 (GRCm38) |
Y5N |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,749,630 (GRCm38) |
H175N |
possibly damaging |
Het |
| Or13a17 |
A |
G |
7: 140,691,111 (GRCm38) |
T69A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,453,280 (GRCm38) |
L311I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,666,972 (GRCm38) |
S305G |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 40,977,057 (GRCm38) |
R154G |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,330,833 (GRCm38) |
F7S |
possibly damaging |
Het |
| Ppm1n |
G |
A |
7: 19,279,172 (GRCm38) |
R285C |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,975,612 (GRCm38) |
I331N |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,367,521 (GRCm38) |
P2066L |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,992,271 (GRCm38) |
|
probably benign |
Het |
| Setx |
A |
G |
2: 29,173,653 (GRCm38) |
I2320M |
probably damaging |
Het |
| Skil |
C |
A |
3: 31,111,638 (GRCm38) |
S368* |
probably null |
Het |
| Slc1a5 |
G |
T |
7: 16,785,719 (GRCm38) |
|
probably null |
Het |
| Trpm7 |
A |
C |
2: 126,819,891 (GRCm38) |
V1079G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,358,659 (GRCm38) |
F2L |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,125,050 (GRCm38) |
|
noncoding transcript |
Het |
| Zbtb17 |
A |
G |
4: 141,461,913 (GRCm38) |
Y48C |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,127,640 (GRCm38) |
I208N |
possibly 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 |
|
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 |
|
|
R6939:Cyp2c67
|
UTSW |
19 |
39,643,334 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation