Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Syna'

64285

Institutional Source

Beutler Lab

Gene Symbol

Syna

Ensembl Gene

ENSMUSG00000085957

Gene Name

syncytin a

Synonyms

syncytin-A, Gm52

MMRRC Submission

038345-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0051 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

134558146-134560171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134559543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 184 (L184H)

Ref Sequence

ENSEMBL: ENSMUSP00000116437 (fasta)

Gene Model

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

AlphaFold

Q5G5D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000149604
AA Change: L184H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: L184H

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

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
4930432E11Rik	A	G	7: 29,579,101		noncoding transcript	Het
Abr	T	A	11: 76,472,502	Q163L	probably benign	Het
AI314180	A	G	4: 58,832,729	L877S	probably damaging	Het
Ankrd11	C	A	8: 122,889,742	C2457F	probably damaging	Het
Anks3	G	C	16: 4,947,749	T163S	probably benign	Het
Cacna1d	G	A	14: 30,111,095	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,316,904	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,794,774	A348E	probably damaging	Het
Cfap46	A	G	7: 139,676,035	C300R	probably damaging	Het
Coq2	T	C	5: 100,663,685	N146S	probably benign	Het
Dalrd3	T	C	9: 108,572,215	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,405,374		probably benign	Het
Ddx39	A	G	8: 83,720,622	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,037,454		probably null	Het
Dmbt1	G	T	7: 131,119,496	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,521,086		probably benign	Het
Dpp7	A	G	2: 25,356,095	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,320,614	S317G	probably benign	Het
Ecsit	C	T	9: 22,076,288	V152I	probably benign	Het
Emc1	T	A	4: 139,375,163	M923K	possibly damaging	Het
Fam102a	G	A	2: 32,558,053	R58Q	possibly damaging	Het
Fcrl6	A	T	1: 172,598,753	L159Q	probably benign	Het
Frrs1	T	C	3: 116,885,297		probably benign	Het
Hspd1	A	G	1: 55,082,046		probably benign	Het
Impg2	T	A	16: 56,258,048	S458T	probably damaging	Het
Klf17	T	C	4: 117,760,392	Y256C	probably damaging	Het
Lnx2	A	G	5: 147,029,353	F319L	probably damaging	Het
Mafg	G	T	11: 120,629,604	R57S	probably damaging	Het
Med13l	T	A	5: 118,742,655	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,447,214	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Naip1	T	C	13: 100,411,001	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,369,664	S320P	probably damaging	Het
Nek11	A	G	9: 105,218,539		probably benign	Het
Nlrp2	A	T	7: 5,322,334		probably benign	Het
Odf3	C	A	7: 140,850,221		probably benign	Het
Rbm26	A	C	14: 105,152,540	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,785,022	D178G	probably damaging	Het
Rtel1	C	T	2: 181,350,656	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,537,365		probably benign	Het
Ryr3	T	C	2: 112,869,075	D890G	probably damaging	Het
Scarb1	C	A	5: 125,281,100		probably null	Het
Serpina10	A	G	12: 103,626,897		probably benign	Het
Slc12a5	T	A	2: 164,986,663	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,562,850	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,864,859	F440L	probably damaging	Het
Stac3	G	A	10: 127,508,148	R305H	probably damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Tmprss7	T	C	16: 45,673,939	N401S	probably damaging	Het
Yeats2	T	A	16: 20,193,724	Y557*	probably null	Het
Zcchc11	T	G	4: 108,527,004	S1089R	probably damaging	Het
Zfp352	T	C	4: 90,224,285	S221P	probably damaging	Het
Zfp575	A	G	7: 24,586,087	V43A	probably benign	Het
Zfp775	A	G	6: 48,620,772	T527A	probably benign	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	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
R6945:Syna	UTSW	5	134558961	missense	probably damaging	0.97
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'- GCTCGAATTGTCCGGCTCGAATAG -3'
(R):5'- GCGTGACAGGCATACTTCCCATAC -3'

Sequencing Primer
(F):5'- ATGTCATCTATCGGGCAGGAG -3'
(R):5'- ATACTTTCTCGGATCACCTCGG -3'

Posted On

2013-08-06