Incidental Mutation 'IGL02198:Ovca2'
| ID |
284136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ovca2
|
| Ensembl Gene |
ENSMUSG00000038268 |
| Gene Name |
candidate tumor suppressor in ovarian cancer 2 |
| Synonyms |
9030414M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75066769-75069634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75069596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 9
(V9A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044949]
[ENSMUST00000071562]
[ENSMUST00000139958]
|
| AlphaFold |
Q9D7E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044949
|
| SMART Domains |
Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthamide_syn
|
76 |
377 |
5.3e-123 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071562
AA Change: V9A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268
AA Change: V9A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FSH1
|
1 |
216 |
1.2e-57 |
PFAM |
|
Pfam:Abhydrolase_2
|
60 |
225 |
2.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134252
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139958
|
| SMART Domains |
Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthamide_syn
|
62 |
276 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156489
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
G |
2: 131,388,412 (GRCm39) |
I381T |
probably damaging |
Het |
| Armt1 |
T |
A |
10: 4,404,064 (GRCm39) |
F383Y |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,932,445 (GRCm39) |
V486A |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,933,733 (GRCm39) |
L615S |
probably damaging |
Het |
| Clec2h |
C |
A |
6: 128,650,979 (GRCm39) |
C86* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,508,262 (GRCm39) |
T1258I |
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,628 (GRCm39) |
M262K |
possibly damaging |
Het |
| Dmpk |
C |
A |
7: 18,822,117 (GRCm39) |
F332L |
probably damaging |
Het |
| Dnaaf4 |
G |
A |
9: 72,876,348 (GRCm39) |
V308I |
probably benign |
Het |
| Fap |
A |
G |
2: 62,385,142 (GRCm39) |
F73L |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,233,399 (GRCm39) |
I1778N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,797,655 (GRCm39) |
T71A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,224,725 (GRCm39) |
A1389S |
probably damaging |
Het |
| Mob3b |
T |
C |
4: 35,083,983 (GRCm39) |
N69D |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,023,070 (GRCm39) |
W21R |
probably damaging |
Het |
| Or4f56 |
A |
T |
2: 111,703,593 (GRCm39) |
N202K |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,394,041 (GRCm39) |
K137N |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,536 (GRCm39) |
N112S |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,899,496 (GRCm39) |
N99I |
probably damaging |
Het |
| Recql5 |
A |
C |
11: 115,785,499 (GRCm39) |
S666A |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,338,833 (GRCm39) |
H615Q |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,141 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,590,258 (GRCm39) |
S328T |
probably damaging |
Het |
| Taok1 |
T |
C |
11: 77,466,503 (GRCm39) |
|
probably benign |
Het |
| Tsnax |
T |
A |
8: 125,759,451 (GRCm39) |
Y237* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,974 (GRCm39) |
K24382N |
probably damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,165 (GRCm39) |
V205E |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,569,145 (GRCm39) |
D933E |
possibly damaging |
Het |
| Vnn1 |
A |
T |
10: 23,779,323 (GRCm39) |
T411S |
probably benign |
Het |
| Wdr27 |
C |
A |
17: 15,128,860 (GRCm39) |
G531V |
possibly damaging |
Het |
| Zfp760 |
G |
T |
17: 21,941,193 (GRCm39) |
V123L |
probably benign |
Het |
|
| Other mutations in Ovca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01893:Ovca2
|
APN |
11 |
75,069,133 (GRCm39) |
missense |
probably benign |
|
|
R1561:Ovca2
|
UTSW |
11 |
75,068,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:Ovca2
|
UTSW |
11 |
75,069,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7220:Ovca2
|
UTSW |
11 |
75,069,501 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9192:Ovca2
|
UTSW |
11 |
75,068,862 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1186:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Ovca2
|
UTSW |
11 |
75,069,528 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation