Incidental Mutation 'R6936:Svs5'
| ID |
540279 |
| 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 |
045050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6936 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164174685-164176314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 164079548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 120
(S120P)
|
| 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: S120P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042389
Gene: ENSMUSG00000040132
AA Change: S120P
| 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: S120P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104999
Gene: ENSMUSG00000040132
AA Change: S120P
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
| Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
| Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
| Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
| Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
| Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
| Cbfa2t3 |
C |
G |
8: 123,374,478 (GRCm39) |
R89P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,741 (GRCm39) |
D202N |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
| Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
| Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
| Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
| Gpatch2 |
A |
G |
1: 186,965,433 (GRCm39) |
D313G |
probably benign |
Het |
| Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
| Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
| Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
| Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
| Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
| Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,798,148 (GRCm39) |
T46S |
probably benign |
Het |
| Tbpl2 |
T |
C |
2: 23,984,953 (GRCm39) |
T64A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
| Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
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 |
|
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'- TTGTCCAAAGGCCGATCCTC -3'
(R):5'- CAGCTGAAGAAAGCCTTTTCATG -3'
Sequencing Primer
(F):5'- AGGCCGATCCTCCAGATTTCAG -3'
(R):5'- GCTGAAGAAAGCCTTTTCATGCAATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation