Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Syt9'

216984

Institutional Source

Beutler Lab

Gene Symbol

Syt9

Ensembl Gene

ENSMUSG00000062542

Gene Name

synaptotagmin IX

Synonyms

Sytv

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107370728-107548656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107425107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 69 (V69D)

Ref Sequence

ENSEMBL: ENSMUSP00000122049 (fasta)

Gene Model

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

AlphaFold

Q9R0N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000073459
AA Change: V69D

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

SMART Domains

Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: V69D

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: V69D

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

SMART Domains

Protein: ENSMUSP00000122049
Gene: ENSMUSG00000062542
AA Change: V69D

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,341,245	I354M	probably damaging	Het
Abca8a	T	C	11: 110,026,905		probably null	Het
Abca8b	T	C	11: 109,979,898	R143G	probably benign	Het
Actn4	T	C	7: 28,894,622	D840G	probably damaging	Het
Agpat5	T	C	8: 18,878,010	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,536,048	V93A	probably benign	Het
Arap2	T	C	5: 62,676,664	K820R	possibly damaging	Het
Armc9	T	A	1: 86,207,974	C551S	probably damaging	Het
Atg7	T	C	6: 114,706,230	L418P	probably damaging	Het
Awat2	G	A	X: 100,404,559	P148S	probably damaging	Het
Brms1	C	T	19: 5,045,999	R34W	probably damaging	Het
Cbx2	A	G	11: 119,028,569	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,059,540	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,339,791	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,306,855	V47E	probably damaging	Het
Cep170b	C	T	12: 112,738,061	S751L	probably damaging	Het
Cfap46	A	T	7: 139,667,041	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,589,931	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,618,608	V139A	probably benign	Het
Dchs1	A	G	7: 105,764,201	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,487,603	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,242,103	K2775E	possibly damaging	Het
Dst	C	A	1: 34,191,016	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,297,372		probably null	Het
Dusp16	G	T	6: 134,718,136	Y577*	probably null	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eml5	A	G	12: 98,876,311	F176S	probably damaging	Het
Esco2	C	A	14: 65,831,533	R109S	probably damaging	Het
Galnt7	C	T	8: 57,532,714	E541K	probably benign	Het
Gbf1	C	T	19: 46,267,219	T707I	probably damaging	Het
Gdf5	A	G	2: 155,941,752	C427R	probably damaging	Het
Glyctk	T	C	9: 106,157,865	M1V	probably null	Het
Gm5478	T	C	15: 101,644,395	E367G	probably damaging	Het
Gm9268	T	C	7: 43,047,400	V620A	probably benign	Het
Golga7b	G	A	19: 42,263,329	V5I	probably benign	Het
Gpt2	T	C	8: 85,493,135	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,858,466	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,304,092	E160G	probably benign	Het
Ift81	A	T	5: 122,560,709	Y532N	probably benign	Het
Igf1	G	A	10: 87,864,864	C66Y	probably damaging	Het
Igf1r	T	C	7: 68,207,275	V995A	probably damaging	Het
Ip6k1	T	C	9: 108,041,088		probably null	Het
Jaml	T	C	9: 45,104,197	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,307,016		probably benign	Het
Kdm6b	T	C	11: 69,401,365		probably benign	Het
Krt6a	C	T	15: 101,691,465	R404H	probably damaging	Het
Larp4b	C	A	13: 9,136,842	H69N	probably benign	Het
Lcat	A	T	8: 105,941,723	W222R	probably damaging	Het
Lrrc40	T	A	3: 158,040,449	C54S	probably benign	Het
Mcpt9	T	A	14: 56,027,567	H159L	probably benign	Het
Megf8	T	C	7: 25,363,551	V2444A	probably damaging	Het
Memo1	T	C	17: 74,245,008	T98A	possibly damaging	Het
Micalcl	A	T	7: 112,412,844	I634L	probably benign	Het
Mov10	C	T	3: 104,796,977	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,548,826	L546Q	probably damaging	Het
Myo6	T	C	9: 80,260,835	V427A	probably damaging	Het
Myom2	T	A	8: 15,132,599		probably null	Het
Mzt2	G	A	16: 15,848,679	R125C	probably damaging	Het
Neb	T	A	2: 52,272,937	R2031*	probably null	Het
Nphp3	T	C	9: 104,021,338	S447P	probably benign	Het
Nrp2	T	A	1: 62,718,931	D25E	probably benign	Het
Nts	A	G	10: 102,485,057	L57S	probably damaging	Het
Nudt9	G	A	5: 104,065,105	R348H	probably benign	Het
Olfr1299	T	C	2: 111,664,889	I221T	probably damaging	Het
Olfr198	T	A	16: 59,201,908	I173F	possibly damaging	Het
Olfr211	C	T	6: 116,493,764	P52S	probably benign	Het
Olfr401	C	A	11: 74,121,824	D178E	probably benign	Het
Olfr976	T	C	9: 39,956,683	Y84C	probably benign	Het
Pafah1b1	T	C	11: 74,699,351		probably benign	Het
Piezo2	C	A	18: 63,078,840	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,443,867	F486S	probably benign	Het
Podnl1	C	T	8: 84,127,297	H99Y	probably benign	Het
Prdm6	A	T	18: 53,568,161	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,758,509		probably null	Het
Psmd4	G	T	3: 95,036,701	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 180,280,874	T242M	probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,906		probably benign	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Scfd1	T	C	12: 51,422,986	V438A	probably benign	Het
Scn9a	A	G	2: 66,484,311	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,892,028	H34L	probably damaging	Het
Shank1	T	A	7: 44,344,323		probably null	Het
Smarca2	G	T	19: 26,672,724	E24*	probably null	Het
Sncaip	C	T	18: 52,871,362	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,943,309	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,642,672	R575S	probably benign	Het
Tanc2	A	G	11: 105,798,732	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,164,468	L70S	probably benign	Het
Tmem44	C	T	16: 30,543,401		probably null	Het
Tor1b	A	G	2: 30,956,919	R293G	probably benign	Het
Trim29	T	C	9: 43,311,318	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378	Y271*	probably null	Het
Ubqln5	A	T	7: 104,128,888	V243E	possibly damaging	Het
Ubqln5	T	C	7: 104,128,927	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,254,334	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,871,402	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,553,923	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,223,834	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,749,161	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,390,722	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,065,333	Y138*	probably null	Het
Xrra1	A	C	7: 99,911,020	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,335,080	C688*	probably null	Het
Zfp3	T	A	11: 70,772,128	Y304*	probably null	Het
Zfp407	A	T	18: 84,559,336	D1217E	probably benign	Het
Zfp658	T	C	7: 43,573,821	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,522,744	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,902,670	K820N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCATTGTCAGGTAACACTG -3'
(R):5'- GCTTATCTTCATGGAGGAGTCAGG -3'

Sequencing Primer
(F):5'- GTCAGGTAACACTGCAGAATCTTC -3'
(R):5'- TCAGGGCAGGGTGTAGG -3'

Posted On

2014-08-01