Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01161:Syt9'

53648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt9

Ensembl Gene

ENSMUSG00000062542

Gene Name

synaptotagmin IX

Synonyms

Sytv

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

107370728-107548656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107425149 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 83 (R83L)

Ref Sequence

ENSEMBL: ENSMUSP00000122049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073459] [ENSMUST00000130414] [ENSMUST00000137663]

Predicted Effect

probably benign
Transcript: ENSMUST00000073459
AA Change: R83L

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: R83L

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

probably damaging
Transcript: ENSMUST00000130414
AA Change: R83L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542
AA Change: R83L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137663

SMART Domains

Protein: ENSMUSP00000117969
Gene: ENSMUSG00000062542

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,705,118	D543E	probably benign	Het
Acad9	A	C	3: 36,090,125	N583T	possibly damaging	Het
Arhgap5	G	A	12: 52,516,860	V205M	probably damaging	Het
Arid1b	G	A	17: 5,342,399	R2068Q	probably damaging	Het
Bex3	T	C	X: 136,271,469	F60S	probably damaging	Het
Casd1	C	T	6: 4,619,833	P193S	possibly damaging	Het
Ceacam11	A	T	7: 17,978,510	I295F	possibly damaging	Het
Ceacam3	T	A	7: 17,151,857	N128K	probably benign	Het
Cyp1a2	C	T	9: 57,679,893	E372K	probably damaging	Het
Ddb1	T	G	19: 10,605,707	M1R	probably null	Het
Ecel1	T	C	1: 87,153,193	D329G	possibly damaging	Het
Fat2	T	C	11: 55,284,191	N1899D	probably benign	Het
Gli3	A	G	13: 15,548,398		probably null	Het
Gm20507	A	T	17: 33,644,753		probably benign	Het
Gml	T	G	15: 74,813,839	Y99S	probably damaging	Het
Gpr119	G	T	X: 48,673,248		probably benign	Het
Hcn1	T	C	13: 117,656,922	Y237H	unknown	Het
Hook2	G	A	8: 84,994,931	V273I	probably benign	Het
Il12rb2	T	C	6: 67,361,865		probably benign	Het
Kdm2a	A	G	19: 4,319,251	F1112S	probably benign	Het
Lpl	A	T	8: 68,892,625	K94*	probably null	Het
Lrrc8a	T	A	2: 30,255,810	L212Q	probably damaging	Het
Me2	A	T	18: 73,770,816		probably benign	Het
Mmp11	A	T	10: 75,926,821	M266K	probably benign	Het
Mprip	T	A	11: 59,731,573	V162E	possibly damaging	Het
Nsf	C	T	11: 103,861,885		probably benign	Het
Olfr661	T	C	7: 104,688,381	V122A	probably benign	Het
Pcif1	T	A	2: 164,885,788	L167H	probably damaging	Het
Reps1	T	C	10: 18,093,895	S249P	probably damaging	Het
Sdf4	T	A	4: 156,009,306	M299K	probably benign	Het
Slc30a7	A	G	3: 115,954,110	V344A	possibly damaging	Het
Svep1	G	A	4: 58,146,569	P358S	probably damaging	Het
Tbc1d15	T	C	10: 115,202,530	I593V	probably benign	Het
Trio	T	A	15: 27,749,781	N1134I	probably damaging	Het
Trpv3	A	G	11: 73,296,718		probably benign	Het
Ugp2	T	A	11: 21,323,273	I449L	possibly damaging	Het
Usp24	C	A	4: 106,436,844	H2595N	probably benign	Het
Vat1l	A	G	8: 114,369,889	N370S	possibly damaging	Het
Wwc1	C	A	11: 35,867,276	D748Y	probably damaging	Het
Zfyve9	G	A	4: 108,681,064	H1002Y	probably damaging	Het

Other mutations in Syt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Syt9	APN	7	107425367	nonsense	probably null
IGL00541:Syt9	APN	7	107502180	missense	probably null	1.00
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

2013-06-28