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 |
Incidental Mutation