Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Syna'

203126

Institutional Source

Beutler Lab

Gene Symbol

Syna

Ensembl Gene

ENSMUSG00000085957

Gene Name

syncytin a

Synonyms

syncytin-A, Gm52

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134587000-134589025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134588943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2 (V2A)

Ref Sequence

ENSEMBL: ENSMUSP00000116437 (fasta)

Gene Model

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

AlphaFold

Q5G5D5

Predicted Effect

probably benign
Transcript: ENSMUST00000149604
AA Change: V2A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: V2A

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

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
C7	C	T	15: 5,041,503 (GRCm39)	V468I	possibly damaging	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Ezr	T	C	17: 7,009,771 (GRCm39)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gnb3	A	C	6: 124,812,599 (GRCm39)	F286V	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hip1r	G	A	5: 124,136,871 (GRCm39)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pak4	G	A	7: 28,264,615 (GRCm39)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTGTCCAAGTCCTTAGTGG -3'
(R):5'- TCAAAGCTCAAAAGTGGGGC -3'

Sequencing Primer
(F):5'- CCAAGTCCTTAGTGGGGCTG -3'
(R):5'- GACTAGCCCCTGATGACCCTC -3'

Posted On

2014-06-23