Incidental Mutation 'R4075:Svs5'
| ID |
316501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Svs5
|
| Ensembl Gene |
ENSMUSG00000017004 |
| Gene Name |
seminal vesicle secretory protein 5 |
| Synonyms |
seminal vesicle protein F, Svp-1, Svp1, SVS V, Svp5 |
| MMRRC Submission |
040974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164174685-164176314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164079238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 223
(E223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044953]
[ENSMUST00000109374]
|
| AlphaFold |
P30933 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044953
AA Change: E223G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: E223G
| 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 |
probably benign
Transcript: ENSMUST00000109374
AA Change: E223G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: E223G
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
| Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
| Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
| Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
| Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
| Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
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 |
|
IGL01722:Svs5
|
APN |
2 |
164,079,446 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGCACTTGTGACATACC -3'
(R):5'- AGCCTTTGGACAAGTGAAATCC -3'
Sequencing Primer
(F):5'- CCATGGCAAATCCTTTATGCTGAG -3'
(R):5'- TTGGACAAGTGAAATCCCAAGAATC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation