Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00541:Syt9'

14334

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt9

Ensembl Gene

ENSMUSG00000062542

Gene Name

synaptotagmin IX

Synonyms

Sytv

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00541

Quality Score

Status

Chromosome

Chromosomal Location

107370728-107548656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107502180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 378 (N378Y)

Ref Sequence

ENSEMBL: ENSMUSP00000073164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073459] [ENSMUST00000130414]

AlphaFold

Q9R0N9

Predicted Effect

probably null
Transcript: ENSMUST00000073459
AA Change: N378Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: N378Y

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
Blast:C2	53	166	7e-54	BLAST
C2	236	339	1.8e-26	SMART
C2	368	482	1.6e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127444

Predicted Effect

probably benign
Transcript: ENSMUST00000130414

SMART Domains

Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
Blast:C2	53	166	3e-57	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144003

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit 50% embryonic lethality while cre-mediated removal of a conditional allele impairs inhibitions of postsynaptic currents. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp2k	G	A	5: 97,063,548		probably null	Het
Col6a3	T	C	1: 90,802,142	H1207R	possibly damaging	Het
Efl1	T	C	7: 82,658,111	S72P	probably damaging	Het
Fbxw9	A	T	8: 85,066,590	I435F	probably damaging	Het
Gm14548	T	A	7: 3,897,386		probably benign	Het
Gm9837	G	A	11: 53,470,252		probably benign	Het
Lama2	C	A	10: 27,188,306	L1226F	probably benign	Het
Nbea	G	A	3: 55,968,089	P1720L	probably benign	Het
Slco1a6	G	T	6: 142,096,299	T517K	possibly damaging	Het
Sult2a2	T	C	7: 13,734,759	L50P	probably damaging	Het
Tchh	A	G	3: 93,446,250	E999G	unknown	Het
Usp9x	A	G	X: 13,141,746	T1425A	probably benign	Het

Other mutations in Syt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Syt9	APN	7	107425367	nonsense	probably null
IGL01161:Syt9	APN	7	107425149	missense	probably damaging	0.97
IGL01705:Syt9	APN	7	107436352	missense	probably damaging	0.96
IGL02567:Syt9	APN	7	107436661	missense	probably damaging	1.00
IGL03268:Syt9	APN	7	107436405	missense	probably benign	0.01
R0684:Syt9	UTSW	7	107425136	missense	probably damaging	1.00
R0743:Syt9	UTSW	7	107436561	missense	probably damaging	0.97
R0835:Syt9	UTSW	7	107506530	missense	probably benign	0.30
R0884:Syt9	UTSW	7	107436561	missense	probably damaging	0.97
R1114:Syt9	UTSW	7	107425355	missense	possibly damaging	0.93
R1502:Syt9	UTSW	7	107436487	missense	probably damaging	1.00
R1885:Syt9	UTSW	7	107436529	missense	probably damaging	1.00
R1962:Syt9	UTSW	7	107425107	missense	probably damaging	1.00
R2368:Syt9	UTSW	7	107436699	missense	probably damaging	1.00
R2421:Syt9	UTSW	7	107436781	missense	probably benign	0.39
R4134:Syt9	UTSW	7	107436423	missense	probably benign	0.22
R4477:Syt9	UTSW	7	107425221	missense	probably damaging	1.00
R4602:Syt9	UTSW	7	107436387	nonsense	probably null
R4685:Syt9	UTSW	7	107436471	missense	possibly damaging	0.89
R4977:Syt9	UTSW	7	107504272	missense	probably damaging	1.00
R5141:Syt9	UTSW	7	107504219	missense	probably damaging	1.00
R5421:Syt9	UTSW	7	107425356	missense	probably benign	0.00
R5440:Syt9	UTSW	7	107502123	missense	possibly damaging	0.46
R5633:Syt9	UTSW	7	107425296	missense	probably damaging	1.00
R5978:Syt9	UTSW	7	107436413	missense	probably benign	0.02
R6260:Syt9	UTSW	7	107436510	missense	possibly damaging	0.93
R6733:Syt9	UTSW	7	107425296	missense	probably damaging	1.00
R6889:Syt9	UTSW	7	107425286	missense	probably damaging	0.99
R7572:Syt9	UTSW	7	107436577	missense	probably damaging	1.00
R8080:Syt9	UTSW	7	107436790	missense	probably benign
X0018:Syt9	UTSW	7	107506574	missense	probably benign	0.20

Posted On

2012-12-06