Incidental Mutation 'R5353:Ovch2'
| ID |
423903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ovch2
|
| Ensembl Gene |
ENSMUSG00000048236 |
| Gene Name |
ovochymase 2 |
| Synonyms |
9230106D23Rik |
| MMRRC Submission |
042932-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107380751-107400386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107393631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 165
(E165V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
| AlphaFold |
Q7M761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106755
AA Change: E165V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: E165V
| 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 |
0.2648 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,934,470 (GRCm39) |
S649P |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,496 (GRCm39) |
M35L |
probably benign |
Het |
| Adgrg3 |
A |
T |
8: 95,762,556 (GRCm39) |
H202L |
probably damaging |
Het |
| Anln |
G |
T |
9: 22,271,813 (GRCm39) |
R681S |
probably damaging |
Het |
| Aprt |
A |
T |
8: 123,302,147 (GRCm39) |
M1K |
probably null |
Het |
| Arid3b |
G |
T |
9: 57,702,320 (GRCm39) |
|
probably null |
Het |
| Cbl |
A |
G |
9: 44,084,620 (GRCm39) |
F172L |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,617,521 (GRCm39) |
V1340L |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,928,593 (GRCm39) |
Y148H |
probably damaging |
Het |
| Cog7 |
A |
C |
7: 121,540,470 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
A |
T |
15: 76,486,771 (GRCm39) |
I255N |
probably damaging |
Het |
| Crebzf |
G |
A |
7: 90,092,622 (GRCm39) |
G134R |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,849,661 (GRCm39) |
S1705G |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,726,082 (GRCm39) |
H1409Q |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,478,632 (GRCm39) |
D232G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,489,168 (GRCm39) |
V3480L |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,330,572 (GRCm39) |
G321W |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,738,567 (GRCm39) |
Y1465* |
probably null |
Het |
| Hdac9 |
G |
A |
12: 34,443,392 (GRCm39) |
Q330* |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,354,639 (GRCm39) |
T298I |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,464 (GRCm39) |
D1055G |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,946,660 (GRCm39) |
S487P |
probably damaging |
Het |
| Naa38 |
G |
A |
11: 69,287,408 (GRCm39) |
V110I |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,969,557 (GRCm39) |
H303R |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,222,125 (GRCm38) |
C49R |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,099 (GRCm39) |
V103A |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,324 (GRCm39) |
Y200H |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,947,012 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
G |
A |
9: 105,545,137 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
C |
2: 121,142,201 (GRCm39) |
V1416G |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,537 (GRCm39) |
V139A |
probably benign |
Het |
| Ppp1r12a |
T |
G |
10: 108,097,077 (GRCm39) |
|
probably null |
Het |
| Pramel20 |
A |
G |
4: 143,297,807 (GRCm39) |
T76A |
probably benign |
Het |
| Psmc5 |
G |
T |
11: 106,152,327 (GRCm39) |
A115S |
probably damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,731,642 (GRCm39) |
E409V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 11,554,235 (GRCm38) |
|
probably benign |
Het |
| Qrich1 |
G |
T |
9: 108,422,164 (GRCm39) |
V593F |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,385,741 (GRCm39) |
I175V |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,493,387 (GRCm39) |
F88S |
possibly damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spred2 |
A |
G |
11: 19,968,155 (GRCm39) |
D208G |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,204 (GRCm39) |
T197A |
probably benign |
Het |
| Taco1 |
G |
A |
11: 105,963,539 (GRCm39) |
|
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,594 (GRCm39) |
V112A |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,319,182 (GRCm39) |
I280T |
probably benign |
Het |
| Yipf2 |
A |
G |
9: 21,503,228 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,548,178 (GRCm39) |
V120A |
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 |
|
R3885:Ovch2
|
UTSW |
7 |
107,395,775 (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 |
|
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'- TAAGCGCATTGTGAAGTTCTCTG -3'
(R):5'- AATGCCTTCCTTATGGTTCTGG -3'
Sequencing Primer
(F):5'- CTCTGACTTTTGAAATGTTTGCCTG -3'
(R):5'- CCTTCCTTATGGTTCTGGATGTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation