Incidental Mutation 'IGL03183:Syna'
| ID |
412338 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syna
|
| Ensembl Gene |
ENSMUSG00000085957 |
| Gene Name |
syncytin a |
| Synonyms |
syncytin-A, Gm52 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03183
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
134587000-134589025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134587144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 602
(S602P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000149604]
|
| AlphaFold |
Q5G5D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149604
AA Change: S602P
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: S602P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:TLV_coat
|
333 |
578 |
1.9e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202523
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of a mouse endogenous retrovirus provirus on chromosome 5 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between E11.5 and E14.5 associated with defective placental layrinth formation, impaired placental transport, and increased trophoblast cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
| Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
| B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
| Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
| Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
| Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
| Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
| Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
| Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
| Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
| Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
| Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,143 (GRCm39) |
T690A |
probably benign |
Het |
| Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
| Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
| Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
| Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
| Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
| Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Syna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Syna
|
APN |
5 |
134,588,571 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01128:Syna
|
APN |
5 |
134,588,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0051:Syna
|
UTSW |
5 |
134,588,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Syna
|
UTSW |
5 |
134,588,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0137:Syna
|
UTSW |
5 |
134,588,314 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0920:Syna
|
UTSW |
5 |
134,587,956 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1525:Syna
|
UTSW |
5 |
134,588,112 (GRCm39) |
missense |
probably benign |
|
|
R1801:Syna
|
UTSW |
5 |
134,588,943 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1813:Syna
|
UTSW |
5 |
134,588,006 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1866:Syna
|
UTSW |
5 |
134,588,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Syna
|
UTSW |
5 |
134,588,106 (GRCm39) |
missense |
probably benign |
|
|
R1896:Syna
|
UTSW |
5 |
134,588,006 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2139:Syna
|
UTSW |
5 |
134,588,106 (GRCm39) |
nonsense |
probably null |
|
|
R3896:Syna
|
UTSW |
5 |
134,587,165 (GRCm39) |
nonsense |
probably null |
|
|
R4674:Syna
|
UTSW |
5 |
134,587,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4730:Syna
|
UTSW |
5 |
134,587,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Syna
|
UTSW |
5 |
134,588,424 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5482:Syna
|
UTSW |
5 |
134,588,028 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6130:Syna
|
UTSW |
5 |
134,587,122 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6196:Syna
|
UTSW |
5 |
134,588,466 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6243:Syna
|
UTSW |
5 |
134,588,968 (GRCm39) |
start gained |
probably benign |
|
|
R6945:Syna
|
UTSW |
5 |
134,587,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7999:Syna
|
UTSW |
5 |
134,588,046 (GRCm39) |
missense |
probably benign |
|
|
R8320:Syna
|
UTSW |
5 |
134,588,574 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8783:Syna
|
UTSW |
5 |
134,588,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8784:Syna
|
UTSW |
5 |
134,588,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8785:Syna
|
UTSW |
5 |
134,588,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8786:Syna
|
UTSW |
5 |
134,588,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8787:Syna
|
UTSW |
5 |
134,588,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0022:Syna
|
UTSW |
5 |
134,588,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Syna
|
UTSW |
5 |
134,587,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation