Incidental Mutation 'IGL03378:Svs5'
ID |
420573 |
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: 0.055)
|
Stock # |
IGL03378
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
164174685-164176314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 164175260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 37
(H37Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017148]
|
AlphaFold |
P30933 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017148
AA Change: H37Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000017148 Gene: ENSMUSG00000017004 AA Change: H37Q
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430069I07Rik |
T |
A |
15: 34,355,778 (GRCm39) |
I261N |
probably benign |
Het |
Bace1 |
T |
A |
9: 45,770,199 (GRCm39) |
|
probably null |
Het |
Caprin2 |
G |
T |
6: 148,779,352 (GRCm39) |
Q152K |
probably benign |
Het |
Cdh16 |
C |
T |
8: 105,345,917 (GRCm39) |
D285N |
probably benign |
Het |
Cnnm2 |
G |
A |
19: 46,866,473 (GRCm39) |
A874T |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,285,722 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
C |
7: 105,362,940 (GRCm39) |
E3834A |
possibly damaging |
Het |
Erc2 |
A |
C |
14: 27,733,680 (GRCm39) |
S585R |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,819,005 (GRCm39) |
E269G |
probably damaging |
Het |
Gpr161 |
T |
C |
1: 165,138,077 (GRCm39) |
L204P |
probably damaging |
Het |
Hp |
A |
G |
8: 110,302,339 (GRCm39) |
V203A |
probably damaging |
Het |
Krtap6-5 |
A |
T |
16: 88,844,677 (GRCm39) |
C19S |
unknown |
Het |
Lce1i |
A |
T |
3: 92,685,033 (GRCm39) |
S48T |
unknown |
Het |
Lrp2 |
A |
T |
2: 69,261,496 (GRCm39) |
S4482T |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,337,285 (GRCm39) |
|
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,886,915 (GRCm39) |
F31S |
probably damaging |
Het |
Or4c100 |
T |
A |
2: 88,356,498 (GRCm39) |
Y190* |
probably null |
Het |
Or8k18 |
T |
A |
2: 86,085,363 (GRCm39) |
I225L |
possibly damaging |
Het |
Papola |
G |
T |
12: 105,775,692 (GRCm39) |
|
probably null |
Het |
Prss23 |
T |
C |
7: 89,159,352 (GRCm39) |
D239G |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,382,220 (GRCm39) |
T83A |
unknown |
Het |
Sh3pxd2b |
T |
G |
11: 32,331,443 (GRCm39) |
L56V |
probably damaging |
Het |
Ski |
A |
G |
4: 155,245,329 (GRCm39) |
S300P |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,053,989 (GRCm39) |
S17P |
probably damaging |
Het |
Tbx21 |
A |
G |
11: 97,005,567 (GRCm39) |
S133P |
probably benign |
Het |
Tgfbr3 |
G |
T |
5: 107,257,568 (GRCm39) |
S830R |
probably damaging |
Het |
Thsd1 |
A |
T |
8: 22,733,794 (GRCm39) |
K280N |
probably benign |
Het |
Tnfrsf13c |
T |
A |
15: 82,108,513 (GRCm39) |
M1L |
probably benign |
Het |
Ttll7 |
T |
C |
3: 146,615,408 (GRCm39) |
F291L |
probably benign |
Het |
Ttn |
A |
G |
2: 76,599,907 (GRCm39) |
V10762A |
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 |
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 |
2016-08-02 |