Incidental Mutation 'R8433:Svop'
| ID |
653853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Svop
|
| Ensembl Gene |
ENSMUSG00000042078 |
| Gene Name |
SV2 related protein |
| Synonyms |
msvop, 1110030H18Rik |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114164974-114229441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114170822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 406
(C406R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058472]
|
| AlphaFold |
Q8BFT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058472
AA Change: C406R
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
AA Change: C406R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
66 |
347 |
2.2e-26 |
PFAM |
|
Pfam:MFS_1
|
86 |
346 |
2e-23 |
PFAM |
|
Pfam:MFS_1
|
376 |
541 |
2.5e-16 |
PFAM |
|
Pfam:Sugar_tr
|
377 |
523 |
2.9e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
| Other mutations in Svop |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Svop
|
APN |
5 |
114,203,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02612:Svop
|
APN |
5 |
114,166,321 (GRCm39) |
makesense |
probably null |
|
|
R0254:Svop
|
UTSW |
5 |
114,176,600 (GRCm39) |
missense |
probably benign |
|
|
R1705:Svop
|
UTSW |
5 |
114,180,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Svop
|
UTSW |
5 |
114,198,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3084:Svop
|
UTSW |
5 |
114,180,299 (GRCm39) |
missense |
probably benign |
|
|
R4494:Svop
|
UTSW |
5 |
114,183,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4575:Svop
|
UTSW |
5 |
114,203,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Svop
|
UTSW |
5 |
114,203,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Svop
|
UTSW |
5 |
114,203,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Svop
|
UTSW |
5 |
114,203,546 (GRCm39) |
unclassified |
probably benign |
|
|
R5433:Svop
|
UTSW |
5 |
114,198,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5731:Svop
|
UTSW |
5 |
114,198,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5783:Svop
|
UTSW |
5 |
114,202,996 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5889:Svop
|
UTSW |
5 |
114,203,692 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8134:Svop
|
UTSW |
5 |
114,180,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8848:Svop
|
UTSW |
5 |
114,183,687 (GRCm39) |
missense |
|
|
|
R8851:Svop
|
UTSW |
5 |
114,192,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Svop
|
UTSW |
5 |
114,170,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8965:Svop
|
UTSW |
5 |
114,173,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9109:Svop
|
UTSW |
5 |
114,168,231 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9298:Svop
|
UTSW |
5 |
114,168,231 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9715:Svop
|
UTSW |
5 |
114,198,169 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9732:Svop
|
UTSW |
5 |
114,201,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGTTCTTAGAGACACATGG -3'
(R):5'- CCAGAGTCTGAATGTCTGAAAGCTG -3'
Sequencing Primer
(F):5'- GACACATGGTCCCTTGCTG -3'
(R):5'- CTGAGTTGGACCAGAACCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation