Mutagenetix > Incidental Mutations

Incidental Mutation 'R5363:Syt14'

422906

Institutional Source

Beutler Lab

Gene Symbol

Syt14

Ensembl Gene

ENSMUSG00000016200

Gene Name

synaptotagmin XIV

Synonyms

B230320I09Rik

MMRRC Submission

042941-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

192891233-193035775 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 192930663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 610 (T610S)

Ref Sequence

ENSEMBL: ENSMUSP00000151129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016344] [ENSMUST00000195354] [ENSMUST00000195530] [ENSMUST00000215093]

AlphaFold

Q7TN84

Predicted Effect

probably benign
Transcript: ENSMUST00000016344
AA Change: T327S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: T327S

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
C2	276	378	1.41e0	SMART
C2	431	547	1.38e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191907

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195354
AA Change: T327S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: T327S

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	81	94	N/A	INTRINSIC
C2	276	378	1.41e0	SMART
C2	431	547	1.38e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195530

SMART Domains

Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215093
AA Change: T610S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the synaptotagmin family. The encoded protein may be involved in membrane trafficking. Disruption of a similar gene in human has been associated with autosomal recessive spinocerebellar ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Syt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Syt14	APN	1	192930484	missense	possibly damaging	0.88
IGL01535:Syt14	APN	1	192986765	missense	probably damaging	1.00
IGL01935:Syt14	APN	1	192933371	missense	probably damaging	0.99
IGL02531:Syt14	APN	1	192901934	makesense	probably null
IGL02716:Syt14	APN	1	192980535	missense	possibly damaging	0.92
IGL03051:Syt14	APN	1	192933220	missense	probably benign	0.19
IGL03268:Syt14	APN	1	192986834	missense	probably benign	0.25
crumpled	UTSW	1	192901869	missense	possibly damaging	0.82
R0542:Syt14	UTSW	1	192930803	missense	probably damaging	1.00
R0598:Syt14	UTSW	1	192897314	missense	probably damaging	1.00
R1533:Syt14	UTSW	1	192930776	missense	possibly damaging	0.94
R1675:Syt14	UTSW	1	192897482	missense	probably damaging	1.00
R1907:Syt14	UTSW	1	192901835	missense	probably damaging	1.00
R3032:Syt14	UTSW	1	192986751	missense	possibly damaging	0.86
R3828:Syt14	UTSW	1	192901775	missense	probably damaging	1.00
R3965:Syt14	UTSW	1	192901867	missense	probably benign	0.04
R4646:Syt14	UTSW	1	192933325	missense	probably damaging	1.00
R4730:Syt14	UTSW	1	192930786	missense	probably damaging	1.00
R4909:Syt14	UTSW	1	192898859	missense	probably damaging	1.00
R4970:Syt14	UTSW	1	192930977	intron	probably benign
R5039:Syt14	UTSW	1	193026984	missense	probably damaging	1.00
R5593:Syt14	UTSW	1	192930923	missense	probably damaging	1.00
R5980:Syt14	UTSW	1	192980408	missense	possibly damaging	0.89
R6014:Syt14	UTSW	1	192930695	missense	probably damaging	0.99
R6221:Syt14	UTSW	1	192930600	missense	probably damaging	1.00
R6547:Syt14	UTSW	1	192901869	missense	possibly damaging	0.82
R6804:Syt14	UTSW	1	192901853	missense	probably damaging	1.00
R7038:Syt14	UTSW	1	192983658	intron	probably benign
R7179:Syt14	UTSW	1	192933263	missense	probably damaging	1.00
R7196:Syt14	UTSW	1	193035628	missense	probably benign	0.01
R7311:Syt14	UTSW	1	192980550	missense	probably benign
R7577:Syt14	UTSW	1	192983577	missense	unknown
R7769:Syt14	UTSW	1	192984324	missense	unknown
R7779:Syt14	UTSW	1	192984443	missense	unknown
R8213:Syt14	UTSW	1	192986829	missense	probably benign	0.00
R8888:Syt14	UTSW	1	192897558	missense	probably damaging	1.00
R8939:Syt14	UTSW	1	192930588	missense	probably damaging	1.00
R8960:Syt14	UTSW	1	192984207	intron	probably benign
R9109:Syt14	UTSW	1	192930636	nonsense	probably null
R9117:Syt14	UTSW	1	192983818	missense	unknown
R9127:Syt14	UTSW	1	192901823	missense	probably damaging	0.98
R9213:Syt14	UTSW	1	192930506	missense	probably damaging	0.97
R9298:Syt14	UTSW	1	192930636	nonsense	probably null
Z1176:Syt14	UTSW	1	192933198	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAGGTTCCAGTATCACCGGTAAC -3'
(R):5'- AACCTTTTGATCCAGAGCCAG -3'

Sequencing Primer
(F):5'- GGTAACGACATTTTCCCTTGAAG -3'
(R):5'- CATTGGATGTGACTTTCGACTATGAC -3'

Posted On

2016-08-04