Incidental Mutation 'IGL01722:Svs5'
| ID |
105136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Svs5
|
| Ensembl Gene |
ENSMUSG00000017004 |
| Gene Name |
seminal vesicle secretory protein 5 |
| Synonyms |
seminal vesicle protein F, Svp-1, Svp1, SVS V, Svp5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164174685-164176314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164079446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 154
(K154E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044953]
[ENSMUST00000109374]
|
| AlphaFold |
P30933 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044953
AA Change: K154E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: K154E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:SVS_QK
|
110 |
121 |
1.2e-6 |
PFAM |
|
Pfam:SVS_QK
|
122 |
137 |
3.9e-3 |
PFAM |
|
Pfam:SVS_QK
|
139 |
149 |
1.3e-5 |
PFAM |
|
Pfam:SVS_QK
|
151 |
166 |
8.4e-4 |
PFAM |
|
Pfam:SVS_QK
|
168 |
179 |
5.3e-6 |
PFAM |
|
Pfam:SVS_QK
|
180 |
195 |
3.9e-3 |
PFAM |
|
Pfam:SVS_QK
|
197 |
207 |
1.3e-5 |
PFAM |
|
Pfam:SVS_QK
|
210 |
221 |
8.8e-5 |
PFAM |
|
Pfam:SVS_QK
|
225 |
236 |
7.7e-6 |
PFAM |
|
Pfam:SVS_QK
|
238 |
249 |
6.1e-6 |
PFAM |
|
Pfam:SVS_QK
|
249 |
260 |
5.2e-4 |
PFAM |
|
Pfam:SVS_QK
|
262 |
272 |
3.1e-5 |
PFAM |
|
Pfam:SVS_QK
|
323 |
334 |
6.7e-5 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109374
AA Change: K154E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: K154E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:SVS_QK
|
110 |
121 |
1.2e-6 |
PFAM |
|
Pfam:SVS_QK
|
122 |
137 |
3.9e-3 |
PFAM |
|
Pfam:SVS_QK
|
139 |
149 |
1.3e-5 |
PFAM |
|
Pfam:SVS_QK
|
151 |
166 |
8.4e-4 |
PFAM |
|
Pfam:SVS_QK
|
168 |
179 |
5.3e-6 |
PFAM |
|
Pfam:SVS_QK
|
180 |
195 |
3.9e-3 |
PFAM |
|
Pfam:SVS_QK
|
197 |
207 |
1.3e-5 |
PFAM |
|
Pfam:SVS_QK
|
210 |
221 |
8.8e-5 |
PFAM |
|
Pfam:SVS_QK
|
225 |
236 |
7.7e-6 |
PFAM |
|
Pfam:SVS_QK
|
238 |
249 |
6.1e-6 |
PFAM |
|
Pfam:SVS_QK
|
249 |
260 |
5.2e-4 |
PFAM |
|
Pfam:SVS_QK
|
262 |
272 |
3.1e-5 |
PFAM |
|
Pfam:SVS_QK
|
323 |
334 |
6.7e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
| Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
| Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
| Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
| Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
| Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
| Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
| Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
| Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
| Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
| Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
| Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
| Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
| Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
| Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
| Other mutations in Svs5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Svs5
|
APN |
2 |
164,078,962 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03189:Svs5
|
APN |
2 |
164,079,032 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03378:Svs5
|
APN |
2 |
164,175,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0781:Svs5
|
UTSW |
2 |
164,175,507 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1110:Svs5
|
UTSW |
2 |
164,175,507 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1276:Svs5
|
UTSW |
2 |
164,079,168 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1541:Svs5
|
UTSW |
2 |
164,078,929 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1590:Svs5
|
UTSW |
2 |
164,079,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3103:Svs5
|
UTSW |
2 |
164,175,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3946:Svs5
|
UTSW |
2 |
164,079,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3965:Svs5
|
UTSW |
2 |
164,079,662 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4075:Svs5
|
UTSW |
2 |
164,079,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4632:Svs5
|
UTSW |
2 |
164,079,667 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4732:Svs5
|
UTSW |
2 |
164,079,043 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4733:Svs5
|
UTSW |
2 |
164,079,043 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4839:Svs5
|
UTSW |
2 |
164,078,806 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5706:Svs5
|
UTSW |
2 |
164,079,589 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6936:Svs5
|
UTSW |
2 |
164,079,548 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7052:Svs5
|
UTSW |
2 |
164,080,126 (GRCm39) |
missense |
unknown |
|
|
R7338:Svs5
|
UTSW |
2 |
164,174,728 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7836:Svs5
|
UTSW |
2 |
164,079,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8017:Svs5
|
UTSW |
2 |
164,175,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8019:Svs5
|
UTSW |
2 |
164,175,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8035:Svs5
|
UTSW |
2 |
164,079,053 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8100:Svs5
|
UTSW |
2 |
164,079,712 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8187:Svs5
|
UTSW |
2 |
164,079,692 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8310:Svs5
|
UTSW |
2 |
164,080,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Svs5
|
UTSW |
2 |
164,080,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Svs5
|
UTSW |
2 |
164,079,341 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9156:Svs5
|
UTSW |
2 |
164,079,509 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9545:Svs5
|
UTSW |
2 |
164,079,313 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9790:Svs5
|
UTSW |
2 |
164,078,918 (GRCm39) |
nonsense |
probably null |
|
|
R9791:Svs5
|
UTSW |
2 |
164,078,918 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Svs5
|
UTSW |
2 |
164,174,711 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2014-01-21 |
Incidental Mutation