Incidental Mutation 'IGL02954:Cyp2c38'
| ID |
365023 |
| 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 # |
IGL02954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39379109-39451519 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39379520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 443
(M443T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035488]
|
| AlphaFold |
P56655 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035488
AA Change: M443T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: M443T
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,782,341 (GRCm39) |
R908L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,592,007 (GRCm39) |
N774S |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,439,207 (GRCm39) |
V729I |
probably benign |
Het |
| Atf3 |
T |
C |
1: 190,903,852 (GRCm39) |
N125D |
probably damaging |
Het |
| Bcat1 |
C |
T |
6: 144,964,945 (GRCm39) |
G215D |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,945,575 (GRCm39) |
Q2555K |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,389 (GRCm39) |
|
probably benign |
Het |
| D6Wsu163e |
C |
T |
6: 126,951,441 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,441,003 (GRCm39) |
E3D |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,923,809 (GRCm39) |
R1259L |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,009,793 (GRCm39) |
L698P |
probably damaging |
Het |
| Ebag9 |
A |
C |
15: 44,493,601 (GRCm39) |
H141P |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,563,526 (GRCm39) |
R840G |
probably benign |
Het |
| Faap100 |
A |
T |
11: 120,262,957 (GRCm39) |
H800Q |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,437,301 (GRCm39) |
I266N |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,239,302 (GRCm39) |
|
probably benign |
Het |
| Gm17334 |
A |
G |
11: 53,663,654 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
G |
T |
3: 93,680,358 (GRCm39) |
W10L |
probably benign |
Het |
| Gng13 |
T |
C |
17: 25,937,726 (GRCm39) |
Y18H |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,990,838 (GRCm39) |
S2113P |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,748,248 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
C |
10: 120,012,147 (GRCm39) |
L206V |
probably damaging |
Het |
| Kcng4 |
C |
T |
8: 120,359,792 (GRCm39) |
A195T |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Nars2 |
T |
G |
7: 96,689,100 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,648 (GRCm39) |
V234A |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,353 (GRCm39) |
K80* |
probably null |
Het |
| Or1o4 |
T |
A |
17: 37,591,195 (GRCm39) |
N39Y |
probably damaging |
Het |
| Patz1 |
A |
G |
11: 3,241,761 (GRCm39) |
Y383C |
probably damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,089 (GRCm39) |
Y152C |
probably damaging |
Het |
| Phkg1 |
A |
G |
5: 129,894,910 (GRCm39) |
W214R |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,301,649 (GRCm39) |
L1459P |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,217 (GRCm39) |
P206S |
probably benign |
Het |
| St7 |
A |
T |
6: 17,848,030 (GRCm39) |
N198I |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,349,015 (GRCm39) |
D249G |
probably damaging |
Het |
| Taf1c |
T |
C |
8: 120,327,225 (GRCm39) |
Y418C |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,938,153 (GRCm39) |
V965A |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,180 (GRCm39) |
N458S |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,315 (GRCm39) |
Y122C |
probably benign |
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 |
|
|
IGL01521:Cyp2c38
|
APN |
19 |
39,449,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation