Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02567:Syt9'

298863

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 #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

106969935-107147863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107035868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 295 (Y295C)

Ref Sequence

ENSEMBL: ENSMUSP00000073164 (fasta)

Gene Model

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

AlphaFold

Q9R0N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000073459
AA Change: Y295C

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

SMART Domains

Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: Y295C

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 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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,263,578 (GRCm39)	S199R	possibly damaging	Het
Ano1	A	G	7: 144,165,362 (GRCm39)	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564 (GRCm39)	V404M	probably damaging	Het
Carmil3	A	G	14: 55,736,339 (GRCm39)	S635G	possibly damaging	Het
Ccl12	C	A	11: 81,993,447 (GRCm39)	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr3	T	C	12: 33,088,900 (GRCm39)	N761D	probably benign	Het
Col14a1	T	C	15: 55,208,357 (GRCm39)		probably null	Het
Col28a1	T	C	6: 8,014,819 (GRCm39)	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,175,084 (GRCm39)		probably benign	Het
D5Ertd615e	T	C	5: 45,320,758 (GRCm39)		noncoding transcript	Het
Deup1	T	C	9: 15,486,579 (GRCm39)	E367G	probably damaging	Het
Dpp8	T	G	9: 64,986,058 (GRCm39)	Y849*	probably null	Het
Efhc1	T	A	1: 21,043,188 (GRCm39)	V369E	probably damaging	Het
Entrep2	T	A	7: 64,436,479 (GRCm39)	M101L	possibly damaging	Het
Epg5	A	G	18: 78,076,288 (GRCm39)	Y2562C	probably damaging	Het
Fbln5	A	G	12: 101,728,059 (GRCm39)		probably null	Het
Frem1	A	T	4: 82,918,292 (GRCm39)	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281 (GRCm39)	S889G	probably benign	Het
Golph3	C	T	15: 12,349,507 (GRCm39)	R176*	probably null	Het
Got2	A	T	8: 96,598,829 (GRCm39)	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,241,890 (GRCm39)		probably benign	Het
H4c16	G	A	6: 136,781,272 (GRCm39)	R36W	probably damaging	Het
Hivep3	A	G	4: 119,991,153 (GRCm39)	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,746,611 (GRCm39)	G227D	probably benign	Het
Ifi202b	C	T	1: 173,791,370 (GRCm39)	S436N	possibly damaging	Het
Nf1	T	A	11: 79,437,969 (GRCm39)	V2109D	probably damaging	Het
Opa1	C	A	16: 29,407,104 (GRCm39)	D29E	probably benign	Het
Papln	C	T	12: 83,825,611 (GRCm39)	P631S	probably benign	Het
Pde4c	T	A	8: 71,200,570 (GRCm39)	M352K	probably benign	Het
Pigu	T	C	2: 155,173,112 (GRCm39)	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,079,965 (GRCm39)	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,621,473 (GRCm39)	D642G	probably damaging	Het
Rnf111	T	C	9: 70,366,287 (GRCm39)	T384A	probably damaging	Het
Scn11a	T	C	9: 119,633,555 (GRCm39)	T393A	probably damaging	Het
Sned1	A	T	1: 93,202,069 (GRCm39)	K619M	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Taar7f	T	A	10: 23,926,323 (GRCm39)	Y306N	probably damaging	Het
Tmem107	T	G	11: 68,961,845 (GRCm39)	L25V	possibly damaging	Het
Wdr24	T	G	17: 26,043,322 (GRCm39)	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,848 (GRCm39)	D231G	probably benign	Het
Zfp142	T	C	1: 74,617,309 (GRCm39)	K341E	possibly damaging	Het
Zfp142	T	A	1: 74,617,306 (GRCm39)	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,617,308 (GRCm39)	K341T	possibly damaging	Het
Zfp804b	T	A	5: 6,819,989 (GRCm39)	I989L	probably benign	Het
Zfyve9	A	C	4: 108,531,720 (GRCm39)	V1095G	probably damaging	Het

Other mutations in Syt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Syt9	APN	7	107,024,574 (GRCm39)	nonsense	probably null
IGL00541:Syt9	APN	7	107,101,387 (GRCm39)	missense	probably null	1.00
IGL01161:Syt9	APN	7	107,024,356 (GRCm39)	missense	probably damaging	0.97
IGL01705:Syt9	APN	7	107,035,559 (GRCm39)	missense	probably damaging	0.96
IGL03268:Syt9	APN	7	107,035,612 (GRCm39)	missense	probably benign	0.01
R0684:Syt9	UTSW	7	107,024,343 (GRCm39)	missense	probably damaging	1.00
R0743:Syt9	UTSW	7	107,035,768 (GRCm39)	missense	probably damaging	0.97
R0835:Syt9	UTSW	7	107,105,737 (GRCm39)	missense	probably benign	0.30
R0884:Syt9	UTSW	7	107,035,768 (GRCm39)	missense	probably damaging	0.97
R1114:Syt9	UTSW	7	107,024,562 (GRCm39)	missense	possibly damaging	0.93
R1502:Syt9	UTSW	7	107,035,694 (GRCm39)	missense	probably damaging	1.00
R1885:Syt9	UTSW	7	107,035,736 (GRCm39)	missense	probably damaging	1.00
R1962:Syt9	UTSW	7	107,024,314 (GRCm39)	missense	probably damaging	1.00
R2368:Syt9	UTSW	7	107,035,906 (GRCm39)	missense	probably damaging	1.00
R2421:Syt9	UTSW	7	107,035,988 (GRCm39)	missense	probably benign	0.39
R4134:Syt9	UTSW	7	107,035,630 (GRCm39)	missense	probably benign	0.22
R4477:Syt9	UTSW	7	107,024,428 (GRCm39)	missense	probably damaging	1.00
R4602:Syt9	UTSW	7	107,035,594 (GRCm39)	nonsense	probably null
R4685:Syt9	UTSW	7	107,035,678 (GRCm39)	missense	possibly damaging	0.89
R4977:Syt9	UTSW	7	107,103,479 (GRCm39)	missense	probably damaging	1.00
R5141:Syt9	UTSW	7	107,103,426 (GRCm39)	missense	probably damaging	1.00
R5421:Syt9	UTSW	7	107,024,563 (GRCm39)	missense	probably benign	0.00
R5440:Syt9	UTSW	7	107,101,330 (GRCm39)	missense	possibly damaging	0.46
R5633:Syt9	UTSW	7	107,024,503 (GRCm39)	missense	probably damaging	1.00
R5978:Syt9	UTSW	7	107,035,620 (GRCm39)	missense	probably benign	0.02
R6260:Syt9	UTSW	7	107,035,717 (GRCm39)	missense	possibly damaging	0.93
R6733:Syt9	UTSW	7	107,024,503 (GRCm39)	missense	probably damaging	1.00
R6889:Syt9	UTSW	7	107,024,493 (GRCm39)	missense	probably damaging	0.99
R7572:Syt9	UTSW	7	107,035,784 (GRCm39)	missense	probably damaging	1.00
R8080:Syt9	UTSW	7	107,035,997 (GRCm39)	missense	probably benign
X0018:Syt9	UTSW	7	107,105,781 (GRCm39)	missense	probably benign	0.20

Posted On

2015-04-16