Mutagenetix > Incidental Mutations

Incidental Mutation 'R0568:Syngr3'

46277

Institutional Source

Beutler Lab

Gene Symbol

Syngr3

Ensembl Gene

ENSMUSG00000007021

Gene Name

synaptogyrin 3

Synonyms

MMRRC Submission

038759-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0568 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

24685092-24689955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24686581 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 140 (A140T)

Ref Sequence

ENSEMBL: ENSMUSP00000007236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007236] [ENSMUST00000047179]

Predicted Effect

probably benign
Transcript: ENSMUST00000007236
AA Change: A140T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021
AA Change: A140T

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: ENSMUST00000047179

SMART Domains

Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
RING	27	66	4.73e-1	SMART
ZnF_C2H2	115	140	9.46e0	SMART
low complexity region	144	153	N/A	INTRINSIC
ZnF_C2H2	185	208	5.2e0	SMART
ZnF_C2H2	209	237	7.11e0	SMART
ZnF_C2H2	238	268	6.47e1	SMART
low complexity region	311	331	N/A	INTRINSIC
low complexity region	344	356	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC
low complexity region	445	454	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC
low complexity region	526	544	N/A	INTRINSIC
low complexity region	581	589	N/A	INTRINSIC
low complexity region	645	663	N/A	INTRINSIC
low complexity region	668	683	N/A	INTRINSIC
low complexity region	694	748	N/A	INTRINSIC
ZnF_C2H2	869	890	8.84e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130936

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,983,038	T181I	possibly damaging	Het
1810043G02Rik	A	T	10: 77,984,547	*250C	probably null	Het
Acnat1	G	A	4: 49,451,003	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,291,713		probably benign	Het
Adamtsl1	T	C	4: 86,418,552	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,464,629		probably null	Het
Bag2	T	C	1: 33,746,978	M88V	probably benign	Het
Brms1l	A	G	12: 55,861,388		probably null	Het
C8b	A	G	4: 104,793,380	I462V	probably benign	Het
Cnpy4	A	G	5: 138,192,577	E167G	probably damaging	Het
Copa	T	C	1: 172,112,137	V624A	possibly damaging	Het
Gm4553	G	T	7: 142,165,620	P24T	unknown	Het
Gna12	A	G	5: 140,760,883	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,211,242	E302*	probably null	Het
Hmcn2	C	A	2: 31,415,236	S3140R	probably benign	Het
Hspa4	A	G	11: 53,262,876		probably benign	Het
Hspbp1	A	T	7: 4,684,432	L60*	probably null	Het
Lats1	A	T	10: 7,712,528	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,582,042		probably benign	Het
Lrrc3	T	A	10: 77,901,585	R6W	probably damaging	Het
Lxn	C	T	3: 67,461,002	A143T	probably damaging	Het
Mga	T	C	2: 119,935,422	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,423,215	I286N	probably damaging	Het
Olfr1212	T	A	2: 88,959,043	Y192*	probably null	Het
Papd4	A	G	13: 93,154,992	S381P	probably benign	Het
Pitpnm2	A	G	5: 124,140,517		probably benign	Het
Plxna2	T	C	1: 194,751,386	V581A	probably benign	Het
Polr3d	A	T	14: 70,439,519	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,489,765	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tprn	T	C	2: 25,264,321	V545A	probably damaging	Het
Trim66	T	C	7: 109,460,695	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,137,365		probably benign	Het
Vps9d1	A	G	8: 123,246,748	V432A	probably damaging	Het
Zswim9	A	T	7: 13,261,026	D401E	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
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
R4094:Syngr3	UTSW	17	24689843	unclassified	probably benign
R5755:Syngr3	UTSW	17	24686535	missense	probably damaging	1.00
R8033:Syngr3	UTSW	17	24686605	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGGTAGGACCCAGAAAAGGTCTC -3'
(R):5'- CAGAATCTCTTTAGGGCACGCCAG -3'

Sequencing Primer
(F):5'- TACCTAGCTGATCTGTGGCAAAG -3'
(R):5'- CATGTGAATGGCAATTTGCTGG -3'

Posted On

2013-06-11