Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Syn3'

293868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syn3

Ensembl Gene

ENSMUSG00000059602

Gene Name

synapsin III

Synonyms

Synapsin IIIa

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

86055125-86498896 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86064906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 373 (I373V)

Ref Sequence

ENSEMBL: ENSMUSP00000113720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120638]

AlphaFold

Q8JZP2

Predicted Effect

probably benign
Transcript: ENSMUST00000120638
AA Change: I373V

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: I373V

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	8.7e-22	PFAM
low complexity region	47	66	N/A	INTRINSIC
low complexity region	80	88	N/A	INTRINSIC
Pfam:Synapsin	89	190	1.8e-46	PFAM
Pfam:Synapsin_C	192	394	6.8e-141	PFAM
low complexity region	418	485	N/A	INTRINSIC
low complexity region	535	551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143319

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	probably damaging	Het

Other mutations in Syn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Syn3	APN	10	86354416	missense	probably damaging	1.00
IGL02598:Syn3	APN	10	86467199	missense	probably damaging	0.99
IGL03007:Syn3	APN	10	86064914	missense	possibly damaging	0.57
IGL03379:Syn3	APN	10	86064872	missense	possibly damaging	0.80
R0234:Syn3	UTSW	10	86448886	missense	possibly damaging	0.64
R0234:Syn3	UTSW	10	86448886	missense	possibly damaging	0.64
R1577:Syn3	UTSW	10	86448864	critical splice donor site	probably null
R1597:Syn3	UTSW	10	86135044	missense	probably benign	0.16
R1699:Syn3	UTSW	10	86080211	missense	probably damaging	1.00
R1916:Syn3	UTSW	10	86354344	critical splice donor site	probably null
R2006:Syn3	UTSW	10	86073233	missense	probably benign	0.20
R2025:Syn3	UTSW	10	86466982	missense	probably damaging	0.97
R4413:Syn3	UTSW	10	86055592	unclassified	probably benign
R4904:Syn3	UTSW	10	86467086	missense	possibly damaging	0.91
R5050:Syn3	UTSW	10	86407668	missense	probably benign	0.05
R5286:Syn3	UTSW	10	86351564	missense	possibly damaging	0.93
R5449:Syn3	UTSW	10	86351570	missense	probably damaging	1.00
R5507:Syn3	UTSW	10	86080226	missense	probably benign	0.01
R5792:Syn3	UTSW	10	86294628	makesense	probably null
R6525:Syn3	UTSW	10	86467052	missense	probably damaging	0.99
R6605:Syn3	UTSW	10	86057564	missense	unknown
R7000:Syn3	UTSW	10	86080252	missense	probably damaging	1.00
R7619:Syn3	UTSW	10	86057564	missense	unknown
R7661:Syn3	UTSW	10	86069076	missense	probably damaging	1.00
R7710:Syn3	UTSW	10	86407670	missense	probably damaging	0.98
R7730:Syn3	UTSW	10	86448909	missense	probably benign	0.05
R7798:Syn3	UTSW	10	86080253	missense	probably damaging	1.00
R7819:Syn3	UTSW	10	86055540	unclassified	probably benign
R7899:Syn3	UTSW	10	86064929	missense	possibly damaging	0.94
R8248:Syn3	UTSW	10	86135021	missense	probably benign	0.13
R8342:Syn3	UTSW	10	86467027	missense	probably damaging	0.99
R8494:Syn3	UTSW	10	86354401	missense	probably damaging	1.00
R9000:Syn3	UTSW	10	86057625	missense	unknown
X0023:Syn3	UTSW	10	86354477	missense	probably benign	0.35
Z1177:Syn3	UTSW	10	86080209	nonsense	probably null

Posted On

2015-04-16