Mutagenetix > Incidental Mutation

Incidental Mutation 'R6945:Syna'

540838

Institutional Source

Beutler Lab

Gene Symbol

Syna

Ensembl Gene

ENSMUSG00000085957

Gene Name

syncytin a

Synonyms

syncytin-A, Gm52

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134558146-134560171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134558961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 378 (V378A)

Ref Sequence

ENSEMBL: ENSMUSP00000116437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000149604]

AlphaFold

Q5G5D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000149604
AA Change: V378A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: V378A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:TLV_coat	333	578	1.9e-59	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het

Other mutations in Syna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Syna	APN	5	134559717	missense	possibly damaging	0.94
IGL01128:Syna	APN	5	134559480	missense	probably damaging	0.99
IGL03183:Syna	APN	5	134558290	missense	probably benign	0.03
R0051:Syna	UTSW	5	134559543	missense	probably damaging	1.00
R0051:Syna	UTSW	5	134559543	missense	probably damaging	0.99
R0137:Syna	UTSW	5	134559460	missense	possibly damaging	0.93
R0920:Syna	UTSW	5	134559102	missense	probably benign	0.12
R1525:Syna	UTSW	5	134559258	missense	probably benign
R1801:Syna	UTSW	5	134560089	missense	probably benign	0.02
R1813:Syna	UTSW	5	134559152	missense	probably benign	0.06
R1866:Syna	UTSW	5	134559915	missense	probably damaging	1.00
R1887:Syna	UTSW	5	134559252	missense	probably benign
R1896:Syna	UTSW	5	134559152	missense	probably benign	0.06
R2139:Syna	UTSW	5	134559252	nonsense	probably null
R3896:Syna	UTSW	5	134558311	nonsense	probably null
R4674:Syna	UTSW	5	134558355	missense	probably damaging	0.99
R4730:Syna	UTSW	5	134558586	missense	probably damaging	1.00
R5124:Syna	UTSW	5	134559570	missense	possibly damaging	0.65
R5482:Syna	UTSW	5	134559174	missense	possibly damaging	0.94
R6130:Syna	UTSW	5	134558268	missense	possibly damaging	0.72
R6196:Syna	UTSW	5	134559612	missense	probably benign	0.14
R6243:Syna	UTSW	5	134560114	start gained	probably benign
R7999:Syna	UTSW	5	134559192	missense	probably benign
R8320:Syna	UTSW	5	134559720	missense	possibly damaging	0.86
R8783:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8784:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8785:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8786:Syna	UTSW	5	134559869	missense	probably benign	0.01
R8787:Syna	UTSW	5	134559869	missense	probably benign	0.01
X0022:Syna	UTSW	5	134559573	missense	probably benign	0.01
Z1088:Syna	UTSW	5	134558529	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGTTGAGGTGGTGATACCCG -3'
(R):5'- TTCAGTACCAGCCCCTCATG -3'

Sequencing Primer
(F):5'- GTGATACCCGCGATGCCTAAC -3'
(R):5'- CTCTCTGGACAATATTCAATCTGGG -3'

Posted On

2018-11-28