Incidental Mutation 'R3885:Ovch2'
| ID |
308712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ovch2
|
| Ensembl Gene |
ENSMUSG00000048236 |
| Gene Name |
ovochymase 2 |
| Synonyms |
9230106D23Rik |
| MMRRC Submission |
040905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107380751-107400386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107395775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 81
(I81T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
| AlphaFold |
Q7M761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106755
AA Change: I81T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: I81T
| 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 |
|
| Meta Mutation Damage Score |
0.4898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak8 |
G |
A |
2: 28,623,897 (GRCm39) |
V161I |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,734,866 (GRCm39) |
I792F |
probably damaging |
Het |
| B930094E09Rik |
G |
A |
18: 31,742,742 (GRCm39) |
S59N |
unknown |
Het |
| Boc |
T |
C |
16: 44,307,976 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
A |
11: 106,965,339 (GRCm39) |
T1170M |
probably damaging |
Het |
| Ccdc85a |
T |
A |
11: 28,526,677 (GRCm39) |
E310D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,881,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,479 (GRCm39) |
Q265L |
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,927,999 (GRCm39) |
I225N |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,498,345 (GRCm39) |
G245S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,243,066 (GRCm39) |
|
probably null |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Gck |
T |
C |
11: 5,860,318 (GRCm39) |
Y108C |
probably damaging |
Het |
| Gjc3 |
T |
A |
5: 137,956,105 (GRCm39) |
N60I |
possibly damaging |
Het |
| Gm5145 |
A |
T |
17: 20,791,272 (GRCm39) |
T217S |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,657 (GRCm39) |
Q96R |
probably damaging |
Het |
| H2ac22 |
A |
G |
13: 21,971,039 (GRCm39) |
L117P |
probably damaging |
Het |
| H2ac8 |
G |
T |
13: 23,755,053 (GRCm39) |
T77K |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,005,835 (GRCm39) |
H448Q |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,967 (GRCm39) |
I262V |
probably damaging |
Het |
| Mgst3 |
G |
T |
1: 167,200,131 (GRCm39) |
Q135K |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 90,930,899 (GRCm39) |
T766S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,326 (GRCm39) |
I38F |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,789,091 (GRCm39) |
N236Y |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,442 (GRCm39) |
E922G |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,894,991 (GRCm39) |
L843Q |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,596 (GRCm39) |
L164F |
possibly damaging |
Het |
| Wiz |
G |
T |
17: 32,576,012 (GRCm39) |
A798E |
possibly damaging |
Het |
|
| Other mutations in Ovch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Ovch2
|
APN |
7 |
107,388,297 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02198:Ovch2
|
APN |
7 |
107,394,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02200:Ovch2
|
APN |
7 |
107,394,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Ovch2
|
APN |
7 |
107,395,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02531:Ovch2
|
APN |
7 |
107,389,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02862:Ovch2
|
APN |
7 |
107,394,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0401:Ovch2
|
UTSW |
7 |
107,400,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0413:Ovch2
|
UTSW |
7 |
107,381,243 (GRCm39) |
missense |
probably benign |
|
|
R0631:Ovch2
|
UTSW |
7 |
107,381,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1028:Ovch2
|
UTSW |
7 |
107,395,755 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1329:Ovch2
|
UTSW |
7 |
107,384,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1809:Ovch2
|
UTSW |
7 |
107,389,412 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2254:Ovch2
|
UTSW |
7 |
107,389,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2265:Ovch2
|
UTSW |
7 |
107,383,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Ovch2
|
UTSW |
7 |
107,394,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Ovch2
|
UTSW |
7 |
107,389,596 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2923:Ovch2
|
UTSW |
7 |
107,389,596 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3034:Ovch2
|
UTSW |
7 |
107,384,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Ovch2
|
UTSW |
7 |
107,388,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4687:Ovch2
|
UTSW |
7 |
107,395,755 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5307:Ovch2
|
UTSW |
7 |
107,391,341 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5353:Ovch2
|
UTSW |
7 |
107,393,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Ovch2
|
UTSW |
7 |
107,393,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Ovch2
|
UTSW |
7 |
107,392,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Ovch2
|
UTSW |
7 |
107,381,185 (GRCm39) |
missense |
probably benign |
|
|
R5979:Ovch2
|
UTSW |
7 |
107,393,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6039:Ovch2
|
UTSW |
7 |
107,388,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6039:Ovch2
|
UTSW |
7 |
107,388,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6064:Ovch2
|
UTSW |
7 |
107,395,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6247:Ovch2
|
UTSW |
7 |
107,384,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6638:Ovch2
|
UTSW |
7 |
107,388,301 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6877:Ovch2
|
UTSW |
7 |
107,389,315 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7040:Ovch2
|
UTSW |
7 |
107,395,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Ovch2
|
UTSW |
7 |
107,393,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Ovch2
|
UTSW |
7 |
107,393,577 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7824:Ovch2
|
UTSW |
7 |
107,388,295 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7841:Ovch2
|
UTSW |
7 |
107,393,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7908:Ovch2
|
UTSW |
7 |
107,388,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Ovch2
|
UTSW |
7 |
107,393,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Ovch2
|
UTSW |
7 |
107,389,584 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8812:Ovch2
|
UTSW |
7 |
107,393,251 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Ovch2
|
UTSW |
7 |
107,392,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Ovch2
|
UTSW |
7 |
107,392,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Ovch2
|
UTSW |
7 |
107,395,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Ovch2
|
UTSW |
7 |
107,389,560 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9703:Ovch2
|
UTSW |
7 |
107,383,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Ovch2
|
UTSW |
7 |
107,393,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAATACAGCATCTTGCCTCTGC -3'
(R):5'- ACTGTCGTGATGCCTGAGTC -3'
Sequencing Primer
(F):5'- ACCTGAGAATTAGCCTACAATGTC -3'
(R):5'- CGTGATGCCTGAGTCATGATCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation