Incidental Mutation 'R6130:Syna'
| ID |
487083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syna
|
| Ensembl Gene |
ENSMUSG00000085957 |
| Gene Name |
syncytin a |
| Synonyms |
syncytin-A, Gm52 |
| MMRRC Submission |
044277-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
134587000-134589025 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134587122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 609
(Q609L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000149604]
|
| AlphaFold |
Q5G5D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149604
AA Change: Q609L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: Q609L
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (46/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abi3 |
T |
A |
11: 95,727,921 (GRCm39) |
E90V |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,575,864 (GRCm39) |
V4834G |
probably damaging |
Het |
| Aen |
A |
T |
7: 78,552,387 (GRCm39) |
|
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,454,980 (GRCm39) |
D26G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,152,131 (GRCm39) |
E160G |
possibly damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,061 (GRCm39) |
H528R |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,641,948 (GRCm39) |
T742A |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,895,341 (GRCm39) |
|
probably null |
Het |
| Ctla4 |
T |
C |
1: 60,951,650 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dennd4b |
T |
C |
3: 90,183,566 (GRCm39) |
L935P |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,165,477 (GRCm39) |
T543S |
probably benign |
Het |
| Dnai3 |
A |
C |
3: 145,748,559 (GRCm39) |
Y852D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,683,902 (GRCm39) |
R420* |
probably null |
Het |
| Flg |
A |
G |
3: 93,200,023 (GRCm39) |
|
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,897 (GRCm39) |
I31F |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
A |
9: 78,149,847 (GRCm39) |
F220Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,395,891 (GRCm39) |
|
probably null |
Het |
| Igf2bp1 |
A |
C |
11: 95,864,846 (GRCm39) |
L201R |
probably damaging |
Het |
| Jph3 |
G |
A |
8: 122,479,826 (GRCm39) |
R168H |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,964,623 (GRCm39) |
I1318F |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,523 (GRCm39) |
N717S |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,622,569 (GRCm39) |
S450C |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,501,994 (GRCm39) |
V6535A |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,489,882 (GRCm39) |
T18A |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,103,598 (GRCm39) |
K22E |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,968,771 (GRCm39) |
S2534A |
possibly damaging |
Het |
| Or1j21 |
A |
T |
2: 36,684,055 (GRCm39) |
D269V |
probably benign |
Het |
| Or2ak5 |
A |
G |
11: 58,611,133 (GRCm39) |
V247A |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,580 (GRCm39) |
N545K |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Saxo4 |
G |
A |
19: 10,455,128 (GRCm39) |
P233L |
probably benign |
Het |
| Scap |
A |
G |
9: 110,209,447 (GRCm39) |
T707A |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,565 (GRCm39) |
Q669R |
probably benign |
Het |
| Scin |
T |
C |
12: 40,119,435 (GRCm39) |
D531G |
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,953,626 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,155 (GRCm39) |
S657G |
probably benign |
Het |
| Stil |
T |
A |
4: 114,887,058 (GRCm39) |
|
probably null |
Het |
| Tmem59l |
A |
G |
8: 70,937,255 (GRCm39) |
S271P |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,019,676 (GRCm39) |
E522G |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,219 (GRCm39) |
A149T |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,498 (GRCm39) |
L156H |
possibly damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,309 (GRCm39) |
R714G |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 74,520,460 (GRCm39) |
Q206L |
possibly damaging |
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 |
|
|
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 |
|
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'- GGGGAAACTACCACCGTTTAAG -3'
(R):5'- CTCGAGTTCTTGGATCCAGTGG -3'
Sequencing Primer
(F):5'- GCAAAATGGATTAGTTCTTGCAAGTG -3'
(R):5'- GGCTGCCCTCTTGGTTGAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation