Mutagenetix > Incidental Mutations

Incidental Mutation 'R4094:Syngr3'

317830

Institutional Source

Beutler Lab

Gene Symbol

Syngr3

Ensembl Gene

ENSMUSG00000007021

Gene Name

synaptogyrin 3

Synonyms

MMRRC Submission

041628-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24685092-24689955 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 24689843 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007236] [ENSMUST00000046839]

Predicted Effect

probably benign
Transcript: ENSMUST00000007236

SMART Domains

Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:MARVEL	20	166	4.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046839

SMART Domains

Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	48	54	N/A	INTRINSIC
Pfam:Evr1_Alr	97	189	2.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130936

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,180,366	C1500R	probably damaging	Het
Amz1	A	T	5: 140,752,166	M93L	probably damaging	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,916,835	P335Q	probably damaging	Het
Bsn	A	C	9: 108,113,870	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,882,797	N49K	probably damaging	Het
Cct8	T	G	16: 87,487,628	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,189,117	M121V	probably benign	Het
Cpne4	A	G	9: 104,686,535	D37G	probably damaging	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
Dhx35	T	A	2: 158,842,356	I517N	probably damaging	Het
Ehf	T	C	2: 103,290,750		probably benign	Het
Erp29	A	G	5: 121,452,282		probably benign	Het
Fam160a2	T	C	7: 105,388,218	D386G	probably damaging	Het
Fgd6	C	A	10: 94,043,434	P50Q	probably damaging	Het
Foxn3	G	T	12: 99,196,441	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,611,032	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,396,416	I355N	probably damaging	Het
Hgs	T	A	11: 120,469,033	L21*	probably null	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Itga2	T	C	13: 114,870,625	D389G	probably benign	Het
Kdm1b	T	C	13: 47,063,020	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,311,678	D237E	probably benign	Het
Lilr4b	A	T	10: 51,481,410	E114V	probably damaging	Het
Loxl1	G	A	9: 58,312,456	T144I	probably damaging	Het
Macf1	C	T	4: 123,459,269	R1784Q	probably benign	Het
Maml2	G	A	9: 13,620,153	S221N	probably benign	Het
Map3k1	A	G	13: 111,756,162	M853T	possibly damaging	Het
Micu3	T	G	8: 40,335,888	S147A	probably null	Het
Nccrp1	T	C	7: 28,544,226	Y261C	possibly damaging	Het
Olfr1030	A	G	2: 85,984,218	Y126C	probably damaging	Het
Olfr1049	T	C	2: 86,255,330	D121G	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr611	T	A	7: 103,518,037	I116F	possibly damaging	Het
Pclo	C	A	5: 14,855,645	T4963N	unknown	Het
Pdxk	T	C	10: 78,464,810	H13R	probably damaging	Het
Plcg1	A	G	2: 160,747,841	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,490,064	N276S	possibly damaging	Het
Prr12	A	G	7: 45,047,947	L848P	unknown	Het
Ptcd2	A	G	13: 99,332,449	I202T	probably damaging	Het
Rab27a	A	C	9: 73,075,544	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,132,725	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,928,658	F337L	probably damaging	Het
Samd8	T	C	14: 21,793,045	I414T	probably damaging	Het
Sema3e	A	G	5: 14,233,690	I478V	probably benign	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,735,568	I239N	probably benign	Het
Spc25	G	A	2: 69,202,631	S50L	probably damaging	Het
St8sia4	A	T	1: 95,627,686	S206R	possibly damaging	Het
Tigd4	A	G	3: 84,594,640	D288G	probably damaging	Het
Trim34b	A	G	7: 104,334,588	M251V	probably benign	Het
Ttll5	A	T	12: 85,956,602	R214*	probably null	Het
Ttn	T	C	2: 76,900,516		probably benign	Het
Vmp1	A	G	11: 86,643,580	I167T	probably benign	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,401,258	N197I	probably damaging	Het

Other mutations in Syngr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02554:Syngr3	APN	17	24686328	missense	probably benign	0.00
IGL02739:Syngr3	APN	17	24686398	missense	probably damaging	0.99
R0568:Syngr3	UTSW	17	24686581	missense	probably benign	0.00
R1019:Syngr3	UTSW	17	24687560	missense	possibly damaging	0.88
R1398:Syngr3	UTSW	17	24686440	missense	probably benign	0.00
R1547:Syngr3	UTSW	17	24687724	missense	probably damaging	0.98
R1564:Syngr3	UTSW	17	24686668	splice site	probably null
R1819:Syngr3	UTSW	17	24687722	missense	possibly damaging	0.85
R1946:Syngr3	UTSW	17	24687706	missense	probably benign	0.26
R5755:Syngr3	UTSW	17	24686535	missense	probably damaging	1.00
R8033:Syngr3	UTSW	17	24686605	nonsense	probably null

Predicted Primers

Posted On

2015-05-15