Incidental Mutation 'IGL01521:Cyp2c38'
ID |
90518 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2c38
|
Ensembl Gene |
ENSMUSG00000032808 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 38 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL01521
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39379109-39451519 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39449114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 80
(Y80H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035488]
|
AlphaFold |
P56655 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035488
AA Change: Y80H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044722 Gene: ENSMUSG00000032808 AA Change: Y80H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1.5e-161 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cyp2c38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Cyp2c38
|
APN |
19 |
39,449,169 (GRCm39) |
nonsense |
probably null |
|
IGL01109:Cyp2c38
|
APN |
19 |
39,451,329 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02036:Cyp2c38
|
APN |
19 |
39,448,760 (GRCm39) |
missense |
probably null |
0.97 |
IGL02187:Cyp2c38
|
APN |
19 |
39,424,649 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02954:Cyp2c38
|
APN |
19 |
39,379,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R0479:Cyp2c38
|
UTSW |
19 |
39,451,449 (GRCm39) |
missense |
probably damaging |
0.99 |
R0684:Cyp2c38
|
UTSW |
19 |
39,379,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R0919:Cyp2c38
|
UTSW |
19 |
39,393,113 (GRCm39) |
missense |
probably benign |
0.07 |
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R1462:Cyp2c38
|
UTSW |
19 |
39,380,632 (GRCm39) |
missense |
probably damaging |
0.96 |
R1642:Cyp2c38
|
UTSW |
19 |
39,390,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R1715:Cyp2c38
|
UTSW |
19 |
39,393,239 (GRCm39) |
missense |
probably benign |
0.25 |
R1900:Cyp2c38
|
UTSW |
19 |
39,426,756 (GRCm39) |
missense |
probably benign |
0.40 |
R1954:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R1955:Cyp2c38
|
UTSW |
19 |
39,393,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R2860:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R2861:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R2862:Cyp2c38
|
UTSW |
19 |
39,449,138 (GRCm39) |
missense |
probably benign |
0.01 |
R3084:Cyp2c38
|
UTSW |
19 |
39,390,145 (GRCm39) |
missense |
probably benign |
0.00 |
R3727:Cyp2c38
|
UTSW |
19 |
39,380,739 (GRCm39) |
splice site |
probably benign |
|
R4648:Cyp2c38
|
UTSW |
19 |
39,449,132 (GRCm39) |
missense |
probably benign |
0.05 |
R5119:Cyp2c38
|
UTSW |
19 |
39,449,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5636:Cyp2c38
|
UTSW |
19 |
39,426,750 (GRCm39) |
nonsense |
probably null |
|
R5651:Cyp2c38
|
UTSW |
19 |
39,449,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R6263:Cyp2c38
|
UTSW |
19 |
39,380,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6384:Cyp2c38
|
UTSW |
19 |
39,380,737 (GRCm39) |
splice site |
probably null |
|
R6853:Cyp2c38
|
UTSW |
19 |
39,426,748 (GRCm39) |
missense |
probably benign |
0.02 |
R6915:Cyp2c38
|
UTSW |
19 |
39,424,512 (GRCm39) |
missense |
probably damaging |
0.99 |
R7201:Cyp2c38
|
UTSW |
19 |
39,390,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Cyp2c38
|
UTSW |
19 |
39,393,187 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7625:Cyp2c38
|
UTSW |
19 |
39,451,368 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7666:Cyp2c38
|
UTSW |
19 |
39,426,686 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8681:Cyp2c38
|
UTSW |
19 |
39,390,135 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Posted On |
2013-12-09 |