Incidental Mutation 'IGL01109:Cyp2c38'
| ID |
53258 |
| 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 # |
IGL01109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
39379109-39451519 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 39451329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035488]
|
| AlphaFold |
P56655 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035488
|
| SMART Domains |
Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,440,211 (GRCm39) |
D861G |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,005,970 (GRCm39) |
T326A |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,401,593 (GRCm39) |
I1425M |
probably damaging |
Het |
| Bend5 |
T |
C |
4: 111,305,838 (GRCm39) |
L294P |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,425,177 (GRCm39) |
D193E |
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,814,606 (GRCm39) |
V130A |
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,692,354 (GRCm39) |
Y331D |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,237,458 (GRCm39) |
Y1017* |
probably null |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,610 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,750,037 (GRCm39) |
M827V |
probably benign |
Het |
| Ehd1 |
T |
A |
19: 6,348,177 (GRCm39) |
M385K |
possibly damaging |
Het |
| Eya3 |
C |
A |
4: 132,420,311 (GRCm39) |
Y52* |
probably null |
Het |
| Itsn1 |
C |
T |
16: 91,603,089 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,952,178 (GRCm39) |
N983I |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,623,035 (GRCm39) |
N1068K |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,006,001 (GRCm39) |
N156K |
probably damaging |
Het |
| Nedd9 |
T |
A |
13: 41,469,710 (GRCm39) |
H481L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,024,588 (GRCm39) |
D484G |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,298,790 (GRCm39) |
V674A |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,409 (GRCm39) |
D178G |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,864 (GRCm39) |
D84N |
probably benign |
Het |
| Or5b113 |
A |
G |
19: 13,342,063 (GRCm39) |
I24V |
probably benign |
Het |
| Or5d38 |
T |
C |
2: 87,955,023 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or8g53 |
T |
C |
9: 39,683,293 (GRCm39) |
M268V |
probably benign |
Het |
| Or8k32 |
T |
A |
2: 86,368,674 (GRCm39) |
D195V |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,379,871 (GRCm39) |
T154A |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,899,041 (GRCm39) |
V84A |
probably damaging |
Het |
| Pcdh11x |
G |
A |
X: 119,310,611 (GRCm39) |
V685I |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,288 (GRCm39) |
V212E |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,243 (GRCm39) |
D2249G |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,742,254 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,940,111 (GRCm39) |
L822* |
probably null |
Het |
| Swt1 |
A |
G |
1: 151,286,890 (GRCm39) |
S201P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,715,553 (GRCm39) |
M81L |
probably benign |
Het |
| Tex9 |
T |
A |
9: 72,395,349 (GRCm39) |
N39I |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,520,360 (GRCm39) |
Y378C |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,195,155 (GRCm39) |
N1131S |
probably damaging |
Het |
| Ugt2b35 |
C |
T |
5: 87,156,165 (GRCm39) |
T419I |
probably damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,367,354 (GRCm39) |
F366V |
probably damaging |
Het |
| Zfp324 |
A |
G |
7: 12,703,362 (GRCm39) |
T95A |
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 |
|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation