Incidental Mutation 'IGL02279:Svs3b'
| ID |
289776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Svs3b
|
| Ensembl Gene |
ENSMUSG00000050383 |
| Gene Name |
seminal vesicle secretory protein 3B |
| Synonyms |
SVS III, 9530004A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164096283-164098560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 164098124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 66
(Q66K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063132]
|
| AlphaFold |
Q8BZH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063132
AA Change: Q66K
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000062011
Gene: ENSMUSG00000050383
AA Change: Q66K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Semenogelin
|
1 |
146 |
7.4e-10 |
PFAM |
|
low complexity region
|
210 |
225 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,681,100 (GRCm39) |
S699G |
probably benign |
Het |
| Ak2 |
C |
T |
4: 128,893,030 (GRCm39) |
A63V |
probably benign |
Het |
| Bckdha |
T |
C |
7: 25,330,534 (GRCm39) |
Y354C |
probably damaging |
Het |
| Ess2 |
T |
C |
16: 17,720,775 (GRCm39) |
E357G |
possibly damaging |
Het |
| Fmod |
T |
A |
1: 133,968,235 (GRCm39) |
C92S |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,964,727 (GRCm39) |
Y26C |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,633 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,675,072 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,881,391 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
C |
T |
2: 87,613,576 (GRCm39) |
R231C |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,957 (GRCm39) |
L31Q |
probably null |
Het |
| Or8c16 |
T |
C |
9: 38,130,389 (GRCm39) |
V90A |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,239,599 (GRCm39) |
D1296G |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,151,207 (GRCm39) |
I8N |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,781,771 (GRCm39) |
N538S |
probably damaging |
Het |
| Srrm2 |
T |
G |
17: 24,034,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,640,634 (GRCm39) |
K11959* |
probably null |
Het |
|
| Other mutations in Svs3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Svs3b
|
APN |
2 |
164,098,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01584:Svs3b
|
APN |
2 |
164,097,943 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01978:Svs3b
|
APN |
2 |
164,098,541 (GRCm39) |
start codon destroyed |
probably benign |
0.16 |
|
IGL03205:Svs3b
|
APN |
2 |
164,098,181 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0078:Svs3b
|
UTSW |
2 |
164,097,881 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0097:Svs3b
|
UTSW |
2 |
164,098,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1920:Svs3b
|
UTSW |
2 |
164,097,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1921:Svs3b
|
UTSW |
2 |
164,097,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7938:Svs3b
|
UTSW |
2 |
164,097,567 (GRCm39) |
nonsense |
probably null |
|
|
R8118:Svs3b
|
UTSW |
2 |
164,097,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8209:Svs3b
|
UTSW |
2 |
164,098,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8226:Svs3b
|
UTSW |
2 |
164,098,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation