Incidental Mutation 'IGL02442:Ovch2'
| ID |
293474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ovch2
|
| Ensembl Gene |
ENSMUSG00000048236 |
| Gene Name |
ovochymase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
107781544-107801208 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107796548 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 88
(I88F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
| AlphaFold |
Q7M761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106755
AA Change: I88F
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: I88F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
51 |
294 |
6.58e-93 |
SMART |
|
CUB
|
314 |
421 |
1.68e-17 |
SMART |
|
CUB
|
431 |
543 |
5.02e-25 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006E09Rik |
T |
C |
11: 101,990,826 (GRCm38) |
V116A |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,177,206 (GRCm38) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 9,004,016 (GRCm38) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Csde1 |
T |
C |
3: 103,054,819 (GRCm38) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,214,285 (GRCm38) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,287,878 (GRCm38) |
I1911N |
probably damaging |
Het |
| Fam60a |
A |
T |
6: 148,928,507 (GRCm38) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 44,950,323 (GRCm38) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,436,806 (GRCm38) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,335,438 (GRCm38) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,458,937 (GRCm38) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,209,165 (GRCm38) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm38) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,089,042 (GRCm38) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,298,716 (GRCm38) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,216,317 (GRCm38) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,606,654 (GRCm38) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,832,387 (GRCm38) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,508,198 (GRCm38) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 8,967,678 (GRCm38) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm38) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,314,375 (GRCm38) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,447,736 (GRCm38) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 34,934,469 (GRCm38) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,190,068 (GRCm38) |
T341S |
probably benign |
Het |
| Olfr1303 |
G |
A |
2: 111,813,991 (GRCm38) |
T245I |
probably benign |
Het |
| Olfr1466 |
T |
A |
19: 13,342,120 (GRCm38) |
C121S |
probably benign |
Het |
| Olfr1469 |
T |
A |
19: 13,410,987 (GRCm38) |
N139K |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,565,226 (GRCm38) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,578,353 (GRCm38) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,801,143 (GRCm38) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,176,888 (GRCm38) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,641,995 (GRCm38) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,110,380 (GRCm38) |
I81L |
possibly damaging |
Het |
| Sri |
T |
A |
5: 8,062,411 (GRCm38) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,808,868 (GRCm38) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,037,901 (GRCm38) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,309,662 (GRCm38) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,581,729 (GRCm38) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,734,784 (GRCm38) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,821,367 (GRCm38) |
Q212H |
probably benign |
Het |
|
| Other mutations in Ovch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Ovch2
|
APN |
7 |
107,789,090 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL02198:Ovch2
|
APN |
7 |
107,794,834 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02200:Ovch2
|
APN |
7 |
107,794,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02531:Ovch2
|
APN |
7 |
107,790,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02862:Ovch2
|
APN |
7 |
107,794,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0401:Ovch2
|
UTSW |
7 |
107,801,136 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0413:Ovch2
|
UTSW |
7 |
107,782,036 (GRCm38) |
missense |
probably benign |
|
|
R0631:Ovch2
|
UTSW |
7 |
107,782,021 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1028:Ovch2
|
UTSW |
7 |
107,796,548 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1329:Ovch2
|
UTSW |
7 |
107,785,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Ovch2
|
UTSW |
7 |
107,790,205 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2254:Ovch2
|
UTSW |
7 |
107,790,195 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2265:Ovch2
|
UTSW |
7 |
107,784,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2358:Ovch2
|
UTSW |
7 |
107,794,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2922:Ovch2
|
UTSW |
7 |
107,790,389 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2923:Ovch2
|
UTSW |
7 |
107,790,389 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3034:Ovch2
|
UTSW |
7 |
107,785,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3885:Ovch2
|
UTSW |
7 |
107,796,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3957:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4687:Ovch2
|
UTSW |
7 |
107,796,548 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5307:Ovch2
|
UTSW |
7 |
107,792,134 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5353:Ovch2
|
UTSW |
7 |
107,794,424 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5688:Ovch2
|
UTSW |
7 |
107,793,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5730:Ovch2
|
UTSW |
7 |
107,793,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5767:Ovch2
|
UTSW |
7 |
107,781,978 (GRCm38) |
missense |
probably benign |
|
|
R5979:Ovch2
|
UTSW |
7 |
107,794,388 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6039:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6039:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6064:Ovch2
|
UTSW |
7 |
107,796,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6247:Ovch2
|
UTSW |
7 |
107,785,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6638:Ovch2
|
UTSW |
7 |
107,789,094 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6877:Ovch2
|
UTSW |
7 |
107,790,108 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7040:Ovch2
|
UTSW |
7 |
107,796,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7257:Ovch2
|
UTSW |
7 |
107,794,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7282:Ovch2
|
UTSW |
7 |
107,794,370 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7824:Ovch2
|
UTSW |
7 |
107,789,088 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7841:Ovch2
|
UTSW |
7 |
107,794,091 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7908:Ovch2
|
UTSW |
7 |
107,789,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8427:Ovch2
|
UTSW |
7 |
107,794,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8745:Ovch2
|
UTSW |
7 |
107,790,377 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8812:Ovch2
|
UTSW |
7 |
107,794,044 (GRCm38) |
nonsense |
probably null |
|
|
R8812:Ovch2
|
UTSW |
7 |
107,793,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9250:Ovch2
|
UTSW |
7 |
107,793,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9301:Ovch2
|
UTSW |
7 |
107,796,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9308:Ovch2
|
UTSW |
7 |
107,790,353 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9703:Ovch2
|
UTSW |
7 |
107,784,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9717:Ovch2
|
UTSW |
7 |
107,794,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation