Incidental Mutation 'R5730:Ovch2'
ID |
452718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ovch2
|
Ensembl Gene |
ENSMUSG00000048236 |
Gene Name |
ovochymase 2 |
Synonyms |
9230106D23Rik |
MMRRC Submission |
043191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5730 (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 107392606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 246
(C246R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106755]
|
AlphaFold |
Q7M761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106755
AA Change: C246R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102366 Gene: ENSMUSG00000048236 AA Change: C246R
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,987,617 (GRCm39) |
V2967A |
possibly damaging |
Het |
Apaf1 |
A |
T |
10: 90,856,633 (GRCm39) |
I858K |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,466,498 (GRCm39) |
T466A |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,492,470 (GRCm39) |
S3162T |
possibly damaging |
Het |
Brd1 |
T |
G |
15: 88,601,248 (GRCm39) |
N462T |
probably benign |
Het |
Carm1 |
G |
A |
9: 21,491,636 (GRCm39) |
R235H |
probably benign |
Het |
Cd80 |
T |
C |
16: 38,303,097 (GRCm39) |
|
probably null |
Het |
Clip4 |
A |
G |
17: 72,117,954 (GRCm39) |
Y333C |
probably damaging |
Het |
Col7a1 |
T |
C |
9: 108,801,310 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,235,206 (GRCm39) |
Q1206* |
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,661,095 (GRCm39) |
I63T |
possibly damaging |
Het |
Diaph1 |
A |
G |
18: 38,036,829 (GRCm39) |
Y119H |
unknown |
Het |
Dst |
T |
G |
1: 34,156,607 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,063,827 (GRCm39) |
T785A |
probably damaging |
Het |
Gm1553 |
A |
G |
10: 82,323,945 (GRCm39) |
F94S |
unknown |
Het |
Gpbar1 |
A |
G |
1: 74,318,195 (GRCm39) |
N146S |
probably damaging |
Het |
Gpc5 |
A |
G |
14: 116,025,726 (GRCm39) |
T588A |
possibly damaging |
Het |
Gramd2a |
A |
G |
9: 59,618,489 (GRCm39) |
H9R |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,424,199 (GRCm39) |
S6N |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,419,703 (GRCm39) |
S969P |
probably benign |
Het |
Lyz2 |
G |
T |
10: 117,114,587 (GRCm39) |
A114E |
probably damaging |
Het |
Madd |
T |
C |
2: 90,988,454 (GRCm39) |
D1193G |
probably damaging |
Het |
Mrpl39 |
C |
T |
16: 84,529,322 (GRCm39) |
G107R |
probably damaging |
Het |
Mthfd2 |
C |
T |
6: 83,294,441 (GRCm39) |
R24H |
probably benign |
Het |
Or2q1 |
C |
T |
6: 42,795,094 (GRCm39) |
R230* |
probably null |
Het |
Or4a68 |
T |
C |
2: 89,269,780 (GRCm39) |
N281S |
probably damaging |
Het |
Phf14 |
A |
T |
6: 11,953,319 (GRCm39) |
I353F |
possibly damaging |
Het |
Ppp2r5a |
C |
T |
1: 191,104,732 (GRCm39) |
V105I |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,950,947 (GRCm39) |
T1949A |
probably damaging |
Het |
Prss48 |
T |
G |
3: 85,904,563 (GRCm39) |
M212L |
possibly damaging |
Het |
Pstk |
A |
T |
7: 130,975,503 (GRCm39) |
D152V |
probably damaging |
Het |
Scn2a |
C |
A |
2: 65,512,882 (GRCm39) |
S214* |
probably null |
Het |
Scn3a |
T |
G |
2: 65,325,604 (GRCm39) |
N971T |
probably benign |
Het |
Syne3 |
T |
C |
12: 104,927,713 (GRCm39) |
I250V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,768 (GRCm39) |
D516G |
probably benign |
Het |
Tcea3 |
T |
C |
4: 135,992,204 (GRCm39) |
V209A |
probably benign |
Het |
Tnr |
A |
G |
1: 159,715,892 (GRCm39) |
S885G |
probably benign |
Het |
Trak2 |
T |
C |
1: 58,960,966 (GRCm39) |
D188G |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,562 (GRCm39) |
I415V |
probably benign |
Het |
Virma |
T |
A |
4: 11,542,154 (GRCm39) |
M1580K |
probably benign |
Het |
Vmn1r120 |
A |
T |
7: 20,786,934 (GRCm39) |
I259N |
possibly damaging |
Het |
Vmn1r64 |
G |
A |
7: 5,887,522 (GRCm39) |
T7I |
probably benign |
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 |
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'- TGCTCTTTACCCCGGTAGAAC -3'
(R):5'- TTGTAACCAGATATTCTCCCAGACC -3'
Sequencing Primer
(F):5'- CCCGGTAGAACTGTAGCTGTCTAAG -3'
(R):5'- CAGACCCCTGAGTCTTAATTGTTAG -3'
|
Posted On |
2017-01-03 |