Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Syn1'

284543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syn1

Ensembl Gene

ENSMUSG00000037217

Gene Name

synapsin I

Synonyms

Synapsin Ia, Syn-1, Synapsin Ib

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

20726750-20787157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20731376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 321 (Q321R)

Ref Sequence

ENSEMBL: ENSMUSP00000111002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001155] [ENSMUST00000081893] [ENSMUST00000115345] [ENSMUST00000136451]

AlphaFold

O88935

Predicted Effect

probably benign
Transcript: ENSMUST00000001155

SMART Domains

Protein: ENSMUSP00000001155
Gene: ENSMUSG00000001127

Domain	Start	End	E-Value	Type
RBD	19	91	1.46e-28	SMART
C1	99	144	7.68e-12	SMART
low complexity region	243	268	N/A	INTRINSIC
Pfam:Pkinase_Tyr	308	565	1.9e-61	PFAM
Pfam:Pkinase	308	566	1.7e-56	PFAM
Pfam:Kinase-like	388	555	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081893
AA Change: Q321R

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080568
Gene: ENSMUSG00000037217
AA Change: Q321R

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	1.3e-23	PFAM
low complexity region	87	94	N/A	INTRINSIC
Pfam:Synapsin	111	212	7.8e-47	PFAM
Pfam:Synapsin_C	214	416	3.2e-124	PFAM
low complexity region	427	440	N/A	INTRINSIC
low complexity region	450	491	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	579	600	N/A	INTRINSIC
low complexity region	608	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115345
AA Change: Q321R

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111002
Gene: ENSMUSG00000037217
AA Change: Q321R

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	1.3e-23	PFAM
low complexity region	87	94	N/A	INTRINSIC
Pfam:Synapsin	110	212	3.2e-60	PFAM
Pfam:Synapsin_C	214	416	1.1e-132	PFAM
Pfam:RimK	229	409	3.3e-8	PFAM
low complexity region	427	440	N/A	INTRINSIC
low complexity region	450	491	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	579	600	N/A	INTRINSIC
low complexity region	608	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128250

SMART Domains

Protein: ENSMUSP00000119544
Gene: ENSMUSG00000001127

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	5	109	3.8e-15	PFAM
Pfam:Pkinase	16	109	2.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136451

SMART Domains

Protein: ENSMUSP00000115793
Gene: ENSMUSG00000001127

Domain	Start	End	E-Value	Type
RBD	56	128	1.46e-28	SMART
C1	136	181	7.68e-12	SMART
low complexity region	280	305	N/A	INTRINSIC
Pfam:Pkinase_Tyr	345	401	2.3e-7	PFAM
Pfam:Pkinase	345	403	7.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176786

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. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired CNS synapse formation and synaptic vesicle (SV) clustering, and may lead to altered SV recycling and inhibitory postsynaptic currents, convulsive seizures, increased response to electrical stimulation,and enhanced paired-pulse facilitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	Het

Other mutations in Syn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Z1177:Syn1	UTSW	X	20,775,600 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16