Incidental Mutation 'R3103:Svs5'
| ID |
262884 |
| 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 |
040577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3103 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164174685-164176314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164175313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 55
(E55V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017148]
|
| AlphaFold |
P30933 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017148
AA Change: E55V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000017148
Gene: ENSMUSG00000017004
AA Change: E55V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149370
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
| Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
| Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
| Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,630,127 (GRCm39) |
E122G |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
| Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
| Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
| Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
| Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
| Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
| Gcm1 |
A |
G |
9: 77,971,734 (GRCm39) |
N225S |
probably damaging |
Het |
| Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
| Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
| Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
| Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
| Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
| Lrrfip2 |
A |
T |
9: 111,051,278 (GRCm39) |
E293D |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
| Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
| Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
| Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
| Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
| Skor2 |
A |
T |
18: 76,946,973 (GRCm39) |
K232* |
probably null |
Het |
| Slc13a5 |
A |
T |
11: 72,148,214 (GRCm39) |
W231R |
probably damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
| Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTGATGCACCACTGAC -3'
(R):5'- TCTAGTCTTCAGATGGCCAGG -3'
Sequencing Primer
(F):5'- TGATGCACCACTGACCCAGAG -3'
(R):5'- CCAGGGAACACGTTATTTGAGTATCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation