Incidental Mutation 'R5706:Svs5'
ID |
451956 |
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 |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5706 (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 164079589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 106
(K106R)
|
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: K106R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000042389 Gene: ENSMUSG00000040132 AA Change: K106R
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: K106R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104999 Gene: ENSMUSG00000040132 AA Change: K106R
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: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
probably benign |
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 |
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'- TTGTCCAAAGGCTGGTCCTC -3'
(R):5'- AAAGGCCACTTCCAGAGCAG -3'
Sequencing Primer
(F):5'- GGTCCTCCAGATTTCAACTGAC -3'
(R):5'- AGAAAGGCCGTCTCAGTTTC -3'
|
Posted On |
2017-01-03 |