Incidental Mutation 'R3896:Syna'
ID |
310538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syna
|
Ensembl Gene |
ENSMUSG00000085957 |
Gene Name |
syncytin a |
Synonyms |
syncytin-A, Gm52 |
MMRRC Submission |
040807-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3896 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
134587000-134589025 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 134587165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 595
(K595*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000149604]
|
AlphaFold |
Q5G5D5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000149604
AA Change: K595*
|
SMART Domains |
Protein: ENSMUSP00000116437 Gene: ENSMUSG00000085957 AA Change: K595*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
T |
3: 146,356,868 (GRCm39) |
N13K |
possibly damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Arhgap20 |
A |
T |
9: 51,728,137 (GRCm39) |
I117F |
probably damaging |
Het |
Asz1 |
A |
G |
6: 18,075,766 (GRCm39) |
I269T |
probably benign |
Het |
Atp8a2 |
C |
A |
14: 60,263,589 (GRCm39) |
|
probably null |
Het |
Atp8b2 |
A |
T |
3: 89,864,626 (GRCm39) |
I163K |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,640,980 (GRCm39) |
F700L |
probably damaging |
Het |
Ccdc80 |
A |
G |
16: 44,916,984 (GRCm39) |
D580G |
probably benign |
Het |
Cog7 |
C |
T |
7: 121,540,392 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
T |
C |
19: 39,130,722 (GRCm39) |
V112A |
possibly damaging |
Het |
D130040H23Rik |
T |
A |
8: 69,755,610 (GRCm39) |
C356S |
probably damaging |
Het |
Emb |
A |
G |
13: 117,409,598 (GRCm39) |
*331W |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,653,847 (GRCm39) |
S703R |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,596,008 (GRCm39) |
|
probably benign |
Het |
Foxp1 |
T |
A |
6: 99,052,897 (GRCm39) |
Q97L |
probably benign |
Het |
Gdf10 |
A |
T |
14: 33,656,438 (GRCm39) |
N467Y |
probably damaging |
Het |
Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,192,650 (GRCm39) |
S522P |
possibly damaging |
Het |
Hydin |
T |
A |
8: 111,235,711 (GRCm39) |
F1899I |
possibly damaging |
Het |
Ints1 |
C |
A |
5: 139,743,399 (GRCm39) |
E1658* |
probably null |
Het |
Jakmip2 |
A |
T |
18: 43,682,751 (GRCm39) |
F691Y |
probably benign |
Het |
Klhl28 |
A |
G |
12: 65,004,333 (GRCm39) |
F60S |
probably damaging |
Het |
Loxhd1 |
C |
T |
18: 77,469,719 (GRCm39) |
S992L |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,812,440 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,364,987 (GRCm39) |
I3258N |
possibly damaging |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Matcap1 |
T |
A |
8: 106,009,920 (GRCm39) |
H343L |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,812,420 (GRCm39) |
V739E |
probably damaging |
Het |
Naa35 |
C |
T |
13: 59,755,109 (GRCm39) |
T185I |
probably damaging |
Het |
Or10v9 |
T |
C |
19: 11,832,951 (GRCm39) |
D122G |
probably damaging |
Het |
Or4c15b |
A |
G |
2: 89,113,441 (GRCm39) |
F33S |
possibly damaging |
Het |
Reg4 |
A |
T |
3: 98,132,082 (GRCm39) |
|
probably benign |
Het |
Rnaseh2b |
A |
C |
14: 62,597,906 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,946,302 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,933,379 (GRCm39) |
M1528L |
probably benign |
Het |
Sdr16c5 |
T |
A |
4: 4,006,609 (GRCm39) |
T228S |
probably damaging |
Het |
Sgo2a |
T |
C |
1: 58,052,805 (GRCm39) |
C202R |
probably damaging |
Het |
Slc25a46 |
A |
G |
18: 31,716,725 (GRCm39) |
L259P |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,345,625 (GRCm39) |
|
probably benign |
Het |
Sox14 |
G |
T |
9: 99,757,636 (GRCm39) |
H34Q |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,573,807 (GRCm39) |
V687A |
probably benign |
Het |
Tmbim7 |
C |
T |
5: 3,711,916 (GRCm39) |
H54Y |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,068,067 (GRCm39) |
M89V |
probably benign |
Het |
Vmn1r86 |
T |
C |
7: 12,836,093 (GRCm39) |
Y261C |
probably benign |
Het |
Xkr4 |
A |
G |
1: 3,286,414 (GRCm39) |
I592T |
probably damaging |
Het |
Ywhah |
A |
G |
5: 33,184,349 (GRCm39) |
Y184C |
probably damaging |
Het |
Zkscan16 |
C |
T |
4: 58,946,125 (GRCm39) |
|
probably benign |
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 |
IGL03183:Syna
|
APN |
5 |
134,587,144 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAACTACCACCGTTTAAGC -3'
(R):5'- AAGCTCGAGTTCTTGGATCC -3'
Sequencing Primer
(F):5'- AAATGGATTAGTTCTTGCAAGTGGC -3'
(R):5'- CGAGTTCTTGGATCCAGTGGC -3'
|
Posted On |
2015-04-17 |