Incidental Mutation 'IGL02611:Cyp2c37'
ID |
300468 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2c37
|
Ensembl Gene |
ENSMUSG00000042248 |
Gene Name |
cytochrome P450, family 2. subfamily c, polypeptide 37 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL02611
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
39980868-40000687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 39982309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 103
(F103L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049178]
|
AlphaFold |
P56654 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049178
AA Change: F103L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000045362 Gene: ENSMUSG00000042248 AA Change: F103L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
5e-160 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chac1 |
T |
A |
2: 119,183,934 (GRCm39) |
Y179N |
probably damaging |
Het |
Dmp1 |
A |
T |
5: 104,360,380 (GRCm39) |
D352V |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,963,075 (GRCm39) |
I443T |
probably benign |
Het |
Furin |
G |
A |
7: 80,041,526 (GRCm39) |
A544V |
probably benign |
Het |
Galntl6 |
A |
G |
8: 58,411,450 (GRCm39) |
M260T |
probably damaging |
Het |
Gm17654 |
G |
A |
14: 43,816,462 (GRCm39) |
T47I |
possibly damaging |
Het |
Hadha |
A |
G |
5: 30,333,941 (GRCm39) |
|
probably benign |
Het |
Itfg2 |
T |
A |
6: 128,401,688 (GRCm39) |
N30I |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,950,128 (GRCm39) |
L1977H |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,551 (GRCm39) |
F779L |
possibly damaging |
Het |
Ltbp4 |
T |
C |
7: 27,010,080 (GRCm39) |
Y1160C |
probably damaging |
Het |
Mcm7 |
C |
A |
5: 138,165,701 (GRCm39) |
S401I |
probably damaging |
Het |
Or2ag1b |
G |
T |
7: 106,287,996 (GRCm39) |
T314K |
probably benign |
Het |
Or52n20 |
A |
T |
7: 104,320,614 (GRCm39) |
D235V |
possibly damaging |
Het |
Pcdh8 |
C |
T |
14: 80,005,107 (GRCm39) |
V876I |
probably benign |
Het |
Pfpl |
T |
C |
19: 12,407,647 (GRCm39) |
S633P |
probably benign |
Het |
Psg29 |
G |
A |
7: 16,942,716 (GRCm39) |
R239Q |
probably benign |
Het |
St18 |
T |
A |
1: 6,839,114 (GRCm39) |
|
probably benign |
Het |
Syt2 |
G |
A |
1: 134,669,620 (GRCm39) |
C87Y |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,131,967 (GRCm39) |
T2300A |
probably damaging |
Het |
|
Other mutations in Cyp2c37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Cyp2c37
|
APN |
19 |
39,990,441 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01307:Cyp2c37
|
APN |
19 |
39,981,023 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01959:Cyp2c37
|
APN |
19 |
39,984,277 (GRCm39) |
nonsense |
probably null |
|
IGL02580:Cyp2c37
|
APN |
19 |
39,982,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R0124:Cyp2c37
|
UTSW |
19 |
39,982,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0391:Cyp2c37
|
UTSW |
19 |
39,982,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Cyp2c37
|
UTSW |
19 |
39,984,238 (GRCm39) |
missense |
probably benign |
0.00 |
R0782:Cyp2c37
|
UTSW |
19 |
39,982,269 (GRCm39) |
missense |
probably benign |
0.00 |
R1413:Cyp2c37
|
UTSW |
19 |
39,982,542 (GRCm39) |
missense |
probably benign |
0.21 |
R1637:Cyp2c37
|
UTSW |
19 |
39,990,426 (GRCm39) |
nonsense |
probably null |
|
R1688:Cyp2c37
|
UTSW |
19 |
39,982,887 (GRCm39) |
splice site |
probably null |
|
R2258:Cyp2c37
|
UTSW |
19 |
39,984,303 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4353:Cyp2c37
|
UTSW |
19 |
39,988,989 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4640:Cyp2c37
|
UTSW |
19 |
40,000,276 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4965:Cyp2c37
|
UTSW |
19 |
40,000,206 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5053:Cyp2c37
|
UTSW |
19 |
39,990,331 (GRCm39) |
missense |
probably benign |
0.00 |
R5645:Cyp2c37
|
UTSW |
19 |
39,982,596 (GRCm39) |
missense |
probably benign |
0.04 |
R5847:Cyp2c37
|
UTSW |
19 |
40,000,176 (GRCm39) |
missense |
probably damaging |
0.98 |
R6487:Cyp2c37
|
UTSW |
19 |
39,983,025 (GRCm39) |
missense |
probably benign |
|
R6631:Cyp2c37
|
UTSW |
19 |
39,998,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Cyp2c37
|
UTSW |
19 |
39,983,990 (GRCm39) |
splice site |
probably null |
|
R7937:Cyp2c37
|
UTSW |
19 |
39,982,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R9640:Cyp2c37
|
UTSW |
19 |
40,000,180 (GRCm39) |
missense |
probably benign |
0.01 |
R9779:Cyp2c37
|
UTSW |
19 |
39,998,323 (GRCm39) |
missense |
probably benign |
0.09 |
R9784:Cyp2c37
|
UTSW |
19 |
39,988,943 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Posted On |
2015-04-16 |