Incidental Mutation 'R7040:Ovch2'
| ID |
546997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ovch2
|
| Ensembl Gene |
ENSMUSG00000048236 |
| Gene Name |
ovochymase 2 |
| Synonyms |
|
| MMRRC Submission |
045013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107781544-107801208 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107796565 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 82
(I82N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
| AlphaFold |
Q7M761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106755
AA Change: I82N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: I82N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 128,236,725 (GRCm38) |
L232P |
possibly damaging |
Het |
| Acaa1a |
T |
C |
9: 119,349,038 (GRCm38) |
V312A |
probably damaging |
Het |
| Bmp2 |
A |
G |
2: 133,561,684 (GRCm38) |
D385G |
probably damaging |
Het |
| C1qtnf9 |
T |
C |
14: 60,779,792 (GRCm38) |
V257A |
probably damaging |
Het |
| Cd3d |
G |
A |
9: 44,985,693 (GRCm38) |
V122I |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,142,223 (GRCm38) |
E199G |
probably damaging |
Het |
| Crb2 |
T |
A |
2: 37,787,684 (GRCm38) |
D326E |
probably benign |
Het |
| Cyp2c29 |
A |
C |
19: 39,330,337 (GRCm38) |
K420N |
possibly damaging |
Het |
| Cyp2g1 |
A |
C |
7: 26,820,759 (GRCm38) |
D472A |
probably damaging |
Het |
| Dab2 |
A |
C |
15: 6,422,251 (GRCm38) |
H116P |
probably damaging |
Het |
| Dnah7b |
G |
C |
1: 46,236,809 (GRCm38) |
E2619Q |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,451,852 (GRCm38) |
M208L |
probably benign |
Het |
| Eif4enif1 |
T |
G |
11: 3,234,040 (GRCm38) |
V521G |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,372,486 (GRCm38) |
N340Y |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,182,934 (GRCm38) |
M55T |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,985,362 (GRCm38) |
S101G |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 123,011,614 (GRCm38) |
D33E |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,850,378 (GRCm38) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 39,060,162 (GRCm38) |
Q611R |
possibly damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,020,452 (GRCm38) |
*123R |
probably null |
Het |
| Map4k3 |
A |
C |
17: 80,680,915 (GRCm38) |
V36G |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,368,923 (GRCm38) |
I707N |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,751,457 (GRCm38) |
E166G |
unknown |
Het |
| Mucl1 |
T |
A |
15: 103,753,578 (GRCm38) |
T108S |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,359,744 (GRCm38) |
D53V |
possibly damaging |
Het |
| Naa15 |
T |
A |
3: 51,472,784 (GRCm38) |
L811Q |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,287,855 (GRCm38) |
T1487A |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,694,328 (GRCm38) |
L87H |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,568,378 (GRCm38) |
V245A |
probably damaging |
Het |
| Nt5c2 |
A |
T |
19: 46,893,535 (GRCm38) |
F291Y |
possibly damaging |
Het |
| Ooep |
T |
C |
9: 78,378,401 (GRCm38) |
N43S |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,781,986 (GRCm38) |
M200V |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,463,475 (GRCm38) |
D178G |
possibly damaging |
Het |
| Or52i2 |
A |
T |
7: 102,670,730 (GRCm38) |
Q270L |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,925,510 (GRCm38) |
C85S |
probably benign |
Het |
| Palb2 |
A |
T |
7: 122,114,399 (GRCm38) |
M524K |
possibly damaging |
Het |
| Patj |
T |
C |
4: 98,441,080 (GRCm38) |
S524P |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,929,954 (GRCm38) |
Y401N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,504,717 (GRCm38) |
T99S |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,932,262 (GRCm38) |
A155T |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,679,112 (GRCm38) |
V585A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,494,382 (GRCm38) |
T302S |
unknown |
Het |
| Tenm4 |
G |
A |
7: 96,553,496 (GRCm38) |
R106H |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,541,860 (GRCm38) |
E760G |
probably benign |
Het |
| Uimc1 |
T |
A |
13: 55,075,454 (GRCm38) |
|
probably null |
Het |
| Usp16 |
C |
T |
16: 87,480,929 (GRCm38) |
A689V |
probably damaging |
Het |
| Vmn2r60 |
G |
A |
7: 42,142,242 (GRCm38) |
A530T |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,575,022 (GRCm38) |
M1185K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 78,912,205 (GRCm38) |
S136P |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,834,462 (GRCm38) |
N175S |
probably benign |
Het |
| Zfp160 |
A |
T |
17: 21,026,532 (GRCm38) |
H448L |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 106,425,009 (GRCm38) |
C451* |
probably null |
Het |
| Zfp945 |
A |
G |
17: 22,852,290 (GRCm38) |
C212R |
probably damaging |
Het |
|
| Other mutations in Ovch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Ovch2
|
APN |
7 |
107,789,090 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL02198:Ovch2
|
APN |
7 |
107,794,834 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02200:Ovch2
|
APN |
7 |
107,794,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02442:Ovch2
|
APN |
7 |
107,796,548 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02531:Ovch2
|
APN |
7 |
107,790,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02862:Ovch2
|
APN |
7 |
107,794,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0401:Ovch2
|
UTSW |
7 |
107,801,136 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0413:Ovch2
|
UTSW |
7 |
107,782,036 (GRCm38) |
missense |
probably benign |
|
|
R0631:Ovch2
|
UTSW |
7 |
107,782,021 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1028:Ovch2
|
UTSW |
7 |
107,796,548 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1329:Ovch2
|
UTSW |
7 |
107,785,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Ovch2
|
UTSW |
7 |
107,790,205 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2254:Ovch2
|
UTSW |
7 |
107,790,195 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2265:Ovch2
|
UTSW |
7 |
107,784,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2358:Ovch2
|
UTSW |
7 |
107,794,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2922:Ovch2
|
UTSW |
7 |
107,790,389 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2923:Ovch2
|
UTSW |
7 |
107,790,389 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3034:Ovch2
|
UTSW |
7 |
107,785,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3885:Ovch2
|
UTSW |
7 |
107,796,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3957:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4687:Ovch2
|
UTSW |
7 |
107,796,548 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5307:Ovch2
|
UTSW |
7 |
107,792,134 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5353:Ovch2
|
UTSW |
7 |
107,794,424 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5688:Ovch2
|
UTSW |
7 |
107,793,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5730:Ovch2
|
UTSW |
7 |
107,793,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5767:Ovch2
|
UTSW |
7 |
107,781,978 (GRCm38) |
missense |
probably benign |
|
|
R5979:Ovch2
|
UTSW |
7 |
107,794,388 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6039:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6039:Ovch2
|
UTSW |
7 |
107,789,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6064:Ovch2
|
UTSW |
7 |
107,796,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6247:Ovch2
|
UTSW |
7 |
107,785,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6638:Ovch2
|
UTSW |
7 |
107,789,094 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6877:Ovch2
|
UTSW |
7 |
107,790,108 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7257:Ovch2
|
UTSW |
7 |
107,794,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7282:Ovch2
|
UTSW |
7 |
107,794,370 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7824:Ovch2
|
UTSW |
7 |
107,789,088 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7841:Ovch2
|
UTSW |
7 |
107,794,091 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7908:Ovch2
|
UTSW |
7 |
107,789,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8427:Ovch2
|
UTSW |
7 |
107,794,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8745:Ovch2
|
UTSW |
7 |
107,790,377 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8812:Ovch2
|
UTSW |
7 |
107,794,044 (GRCm38) |
nonsense |
probably null |
|
|
R8812:Ovch2
|
UTSW |
7 |
107,793,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9250:Ovch2
|
UTSW |
7 |
107,793,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9301:Ovch2
|
UTSW |
7 |
107,796,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9308:Ovch2
|
UTSW |
7 |
107,790,353 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9703:Ovch2
|
UTSW |
7 |
107,784,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9717:Ovch2
|
UTSW |
7 |
107,794,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAATACAGCATCTTGCCTCTGC -3'
(R):5'- CGTGATGCCTGAGTCATGATC -3'
Sequencing Primer
(F):5'- ACCTGAGAATTAGCCTACAATGTC -3'
(R):5'- ATGCCTGAGTCATGATCACTGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation