Incidental Mutation 'R2254:Ovch2'
ID |
241874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ovch2
|
Ensembl Gene |
ENSMUSG00000048236 |
Gene Name |
ovochymase 2 |
Synonyms |
9230106D23Rik |
MMRRC Submission |
040254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
107380751-107400386 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107389402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 342
(V342A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
AlphaFold |
Q7M761 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106755
AA Change: V342A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102366 Gene: ENSMUSG00000048236 AA Change: V342A
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,311,365 (GRCm39) |
E260G |
probably benign |
Het |
AI429214 |
G |
T |
8: 37,460,920 (GRCm39) |
D23Y |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,596,830 (GRCm39) |
Y1021C |
probably damaging |
Het |
Ang5 |
A |
G |
14: 44,200,074 (GRCm39) |
D46G |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,683,003 (GRCm39) |
D635V |
probably benign |
Het |
Apob |
C |
T |
12: 8,061,256 (GRCm39) |
T3246I |
possibly damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,390 (GRCm39) |
E63G |
probably benign |
Het |
B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,824,634 (GRCm39) |
C243F |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,776,985 (GRCm39) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,958,405 (GRCm39) |
V255I |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,979 (GRCm39) |
S2711T |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,939,707 (GRCm39) |
K137* |
probably null |
Het |
Gdi2 |
T |
A |
13: 3,604,400 (GRCm39) |
|
probably null |
Het |
Glyr1 |
A |
G |
16: 4,836,877 (GRCm39) |
V429A |
probably benign |
Het |
Gm5938 |
T |
A |
X: 77,172,161 (GRCm39) |
|
probably null |
Het |
Golt1b |
T |
C |
6: 142,341,979 (GRCm39) |
L121P |
probably damaging |
Het |
Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
Ifi204 |
G |
A |
1: 173,589,296 (GRCm39) |
T45M |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,530,380 (GRCm39) |
N369S |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 192,187,722 (GRCm39) |
|
probably null |
Het |
Kitl |
G |
A |
10: 99,915,993 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
Lax1 |
A |
G |
1: 133,607,971 (GRCm39) |
S257P |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,309 (GRCm39) |
I1111T |
probably benign |
Het |
Lrrcc1 |
G |
A |
3: 14,612,315 (GRCm39) |
R356H |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
Med11 |
T |
C |
11: 70,342,921 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 94,954,485 (GRCm39) |
|
probably null |
Het |
Or51ag1 |
A |
G |
7: 103,155,271 (GRCm39) |
V294A |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,894,228 (GRCm39) |
|
probably benign |
Het |
Oxtr |
A |
T |
6: 112,466,067 (GRCm39) |
L231Q |
probably damaging |
Het |
Prap1 |
A |
G |
7: 139,676,075 (GRCm39) |
T30A |
probably damaging |
Het |
Scg2 |
G |
A |
1: 79,414,217 (GRCm39) |
P169S |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,424,666 (GRCm39) |
V549A |
possibly damaging |
Het |
Slc22a12 |
A |
T |
19: 6,592,571 (GRCm39) |
V57D |
possibly damaging |
Het |
Slc22a28 |
A |
C |
19: 8,041,858 (GRCm39) |
C450G |
probably benign |
Het |
Tas2r120 |
A |
T |
6: 132,634,572 (GRCm39) |
Q218L |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,259,190 (GRCm39) |
T354A |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,935,612 (GRCm39) |
T868A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
Wdr20rt |
T |
A |
12: 65,273,007 (GRCm39) |
W56R |
probably damaging |
Het |
Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp40 |
T |
C |
17: 23,397,344 (GRCm39) |
D51G |
possibly damaging |
Het |
Zfp64 |
G |
A |
2: 168,768,662 (GRCm39) |
H317Y |
probably 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 |
|
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 |
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'- TGAGGAGACTGCTGCATTTACG -3'
(R):5'- GAGCTGCACTTCCCAGAAAG -3'
Sequencing Primer
(F):5'- CTCCATGTCAGACATATTGTGACCAG -3'
(R):5'- GCCTCCACCTGTACTATGAGAG -3'
|
Posted On |
2014-10-16 |