Incidental Mutation 'IGL01128:Syna'
ID |
51159 |
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 # |
IGL01128
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
134587000-134589025 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134588334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 205
(D205G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000149604]
|
AlphaFold |
Q5G5D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149604
AA Change: D205G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116437 Gene: ENSMUSG00000085957 AA Change: D205G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,950,332 (GRCm39) |
T128A |
probably benign |
Het |
Bves |
T |
A |
10: 45,229,944 (GRCm39) |
F249L |
probably damaging |
Het |
Capns1 |
T |
C |
7: 29,889,558 (GRCm39) |
I214V |
probably benign |
Het |
Cgnl1 |
G |
T |
9: 71,631,843 (GRCm39) |
Q503K |
possibly damaging |
Het |
Ep300 |
A |
G |
15: 81,514,207 (GRCm39) |
|
probably benign |
Het |
Fam117b |
T |
A |
1: 60,008,177 (GRCm39) |
F337Y |
probably damaging |
Het |
Fam178b |
A |
T |
1: 36,683,435 (GRCm39) |
V95E |
probably damaging |
Het |
Gak |
T |
A |
5: 108,740,236 (GRCm39) |
M560L |
probably damaging |
Het |
Gna11 |
C |
A |
10: 81,366,718 (GRCm39) |
A331S |
probably damaging |
Het |
Gtf3c3 |
A |
C |
1: 54,468,035 (GRCm39) |
F201V |
possibly damaging |
Het |
Kat6b |
G |
A |
14: 21,710,928 (GRCm39) |
R734H |
probably benign |
Het |
Lag3 |
T |
C |
6: 124,886,380 (GRCm39) |
D191G |
probably damaging |
Het |
Mttp |
T |
A |
3: 137,839,758 (GRCm39) |
|
probably null |
Het |
Nlgn3 |
A |
T |
X: 100,363,698 (GRCm39) |
T790S |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,406 (GRCm39) |
D179G |
probably damaging |
Het |
Or5b123 |
G |
A |
19: 13,597,110 (GRCm39) |
E195K |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,550,068 (GRCm39) |
Y238N |
probably damaging |
Het |
Plg |
A |
T |
17: 12,615,586 (GRCm39) |
|
probably benign |
Het |
Ptprm |
A |
T |
17: 67,349,096 (GRCm39) |
C376S |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,385,573 (GRCm39) |
D495G |
probably benign |
Het |
Rims1 |
A |
T |
1: 22,573,256 (GRCm39) |
V315D |
probably damaging |
Het |
Ros1 |
G |
A |
10: 52,018,424 (GRCm39) |
Q745* |
probably null |
Het |
Satb1 |
A |
G |
17: 52,112,317 (GRCm39) |
V99A |
probably damaging |
Het |
Sema3e |
C |
T |
5: 14,282,129 (GRCm39) |
P422S |
probably damaging |
Het |
Stkld1 |
G |
T |
2: 26,841,483 (GRCm39) |
W476L |
probably benign |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,027,650 (GRCm39) |
T880A |
probably benign |
Het |
Uckl1 |
T |
C |
2: 181,212,130 (GRCm39) |
E363G |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 19,980,718 (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 |
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 |
|
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 |
2013-06-21 |