Incidental Mutation 'R5767:Ovch2'
| ID |
446328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ovch2
|
| Ensembl Gene |
ENSMUSG00000048236 |
| Gene Name |
ovochymase 2 |
| Synonyms |
9230106D23Rik |
| MMRRC Submission |
043367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107380751-107400386 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107381185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 571
(E571G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
| AlphaFold |
Q7M761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106755
AA Change: E571G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: E571G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208448
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,117,070 (GRCm39) |
V224E |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
| Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,731,468 (GRCm39) |
I242N |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,041,090 (GRCm39) |
H394R |
probably damaging |
Het |
| Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
| Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
| Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
| Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,443,230 (GRCm39) |
C303S |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,249,190 (GRCm39) |
A260T |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
| Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
| Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
| Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
probably null |
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 |
|
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 |
|
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'- ACAAATGTGTCACCCATTTCTGG -3'
(R):5'- ACCTGTTTACTGAAGTGTCTCC -3'
Sequencing Primer
(F):5'- TTCAGAAGACCACTGTCAATAGCTGG -3'
(R):5'- GTGTCTCCACAGTTCAGACAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation