Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Syna'

502912

Institutional Source

Beutler Lab

Gene Symbol

Syna

Ensembl Gene

ENSMUSG00000085957

Gene Name

syncytin a

Synonyms

syncytin-A, Gm52

MMRRC Submission

044336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134587000-134589025 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134588466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 161 (T161N)

Ref Sequence

ENSEMBL: ENSMUSP00000116437 (fasta)

Gene Model

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

AlphaFold

Q5G5D5

Predicted Effect

probably benign
Transcript: ENSMUST00000149604
AA Change: T161N

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116437
Gene: ENSMUSG00000085957
AA Change: T161N

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bend6	A	G	1: 33,917,509 (GRCm39)	Y44H	probably damaging	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Ctsr	A	T	13: 61,308,345 (GRCm39)	H266Q	probably benign	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or10d1	G	A	9: 39,483,776 (GRCm39)	P260S	possibly damaging	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,695,762 (GRCm39)	D99G	probably benign	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Vwc2l	T	A	1: 70,768,180 (GRCm39)	D34E	probably damaging	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	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
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
R6130:Syna	UTSW	5	134,587,122 (GRCm39)	missense	possibly damaging	0.72
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'- TCTCCATTTAGACCCTGGCATG -3'
(R):5'- AGAGGCGCCTCCAGAATTTC -3'

Sequencing Primer
(F):5'- TAGCTGGAGGACAGATCT -3'
(R):5'- GCCTCCAGAATTTCCAACCATTG -3'

Posted On

2018-02-27