Mutagenetix > Incidental Mutation

Incidental Mutation 'R6014:Syt14'

479892

Institutional Source

Beutler Lab

Gene Symbol

Syt14

Ensembl Gene

ENSMUSG00000016200

Gene Name

synaptotagmin XIV

Synonyms

B230320I09Rik

MMRRC Submission

044190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192573541-192718083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192613003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 599 (I599T)

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: I316T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: I316T

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: I316T

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: I316T

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

probably damaging
Transcript: ENSMUST00000215093
AA Change: I599T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1926

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,244,881 (GRCm39)	M157K	probably benign	Het
A2ml1	C	T	6: 128,548,948 (GRCm39)	C278Y	probably damaging	Het
Abcc2	A	T	19: 43,815,174 (GRCm39)	Q1187L	probably benign	Het
Adcy9	A	T	16: 4,236,683 (GRCm39)	Y6N	probably damaging	Het
Adh1	T	C	3: 137,992,559 (GRCm39)	I225T	probably benign	Het
Akap11	A	T	14: 78,749,939 (GRCm39)	I816K	probably benign	Het
Ap1b1	T	A	11: 4,969,364 (GRCm39)	M240K	possibly damaging	Het
Apex1	A	T	14: 51,162,982 (GRCm39)	T17S	probably benign	Het
Arhgap21	C	T	2: 20,886,616 (GRCm39)	G26D	probably damaging	Het
Bahcc1	A	G	11: 120,180,615 (GRCm39)	Y2613C	probably benign	Het
Baz1b	C	T	5: 135,246,248 (GRCm39)	R566W	probably damaging	Het
Casp8ap2	A	T	4: 32,641,400 (GRCm39)	Y818F	probably damaging	Het
Col3a1	T	A	1: 45,360,739 (GRCm39)	C56*	probably null	Het
Coro2a	G	A	4: 46,542,261 (GRCm39)	P371S	probably damaging	Het
Cyp2a22	T	A	7: 26,638,605 (GRCm39)		probably null	Het
Dpysl3	T	A	18: 43,494,132 (GRCm39)	I183F	probably damaging	Het
Drc1	A	T	5: 30,502,993 (GRCm39)	N172I	probably damaging	Het
Dst	T	C	1: 34,303,915 (GRCm39)	Y1378H	probably damaging	Het
Dync2i2	C	T	2: 29,921,763 (GRCm39)	A533T	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l3	A	T	17: 69,590,955 (GRCm39)	T91S	probably damaging	Het
Exoc4	T	C	6: 33,452,932 (GRCm39)	V474A	probably benign	Het
Fam229b	G	A	10: 38,994,989 (GRCm39)	T56I	probably damaging	Het
Gfm2	A	G	13: 97,288,169 (GRCm39)		probably null	Het
Git2	C	T	5: 114,871,938 (GRCm39)	E152K	probably benign	Het
Golt1b	T	A	6: 142,341,943 (GRCm39)	I109N	probably damaging	Het
Grid2ip	T	A	5: 143,373,578 (GRCm39)	M783K	possibly damaging	Het
Inpp5a	A	G	7: 139,154,898 (GRCm39)	Y339C	probably damaging	Het
Isoc2a	T	C	7: 4,894,625 (GRCm39)	S103P	probably damaging	Het
Itih4	C	A	14: 30,614,586 (GRCm39)	Q483K	probably benign	Het
Kansl2	A	G	15: 98,418,197 (GRCm39)		probably null	Het
Kdm5d	G	A	Y: 921,528 (GRCm39)	A509T	probably benign	Het
Krt13	A	T	11: 100,008,437 (GRCm39)	D433E	unknown	Het
Lat2	C	T	5: 134,632,308 (GRCm39)	V142M	probably damaging	Het
Lemd1	A	C	1: 132,184,463 (GRCm39)	*102S	probably null	Het
Lrfn2	T	C	17: 49,376,934 (GRCm39)	L5P	possibly damaging	Het
Lrrc4c	T	G	2: 97,459,557 (GRCm39)		probably null	Het
Lypla1	T	A	1: 4,878,594 (GRCm39)		probably null	Het
Magi2	G	A	5: 20,816,091 (GRCm39)	G744R	probably damaging	Het
Myh14	T	A	7: 44,274,502 (GRCm39)	E948V	probably null	Het
Myo5a	C	A	9: 75,074,489 (GRCm39)	Y799*	probably null	Het
Nacc1	A	C	8: 85,401,700 (GRCm39)	M371R	possibly damaging	Het
Nlrp5	T	G	7: 23,109,372 (GRCm39)	M106R	probably benign	Het
Oas1h	C	T	5: 121,005,229 (GRCm39)	H226Y	possibly damaging	Het
Obscn	A	C	11: 58,929,690 (GRCm39)	I5175R	probably damaging	Het
Pcdh7	T	A	5: 57,878,497 (GRCm39)	I684N	probably damaging	Het
Pcdhb3	T	A	18: 37,435,706 (GRCm39)	N557K	probably damaging	Het
Pde3b	T	C	7: 114,015,675 (GRCm39)	L297S	probably damaging	Het
Pigv	G	T	4: 133,392,740 (GRCm39)	H143Q	probably benign	Het
Ptk2	T	G	15: 73,176,293 (GRCm39)	Y251S	possibly damaging	Het
Ralgds	A	G	2: 28,433,673 (GRCm39)	N219S	probably damaging	Het
Sardh	C	A	2: 27,087,540 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,356 (GRCm39)	K212N	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,971 (GRCm39)	N461D	probably benign	Het
Shisa2	A	T	14: 59,867,357 (GRCm39)	Q203L	probably damaging	Het
Shmt1	C	A	11: 60,688,383 (GRCm39)	G255V	probably damaging	Het
Socs1	T	A	16: 10,602,357 (GRCm39)	I127F	possibly damaging	Het
Srcap	A	T	7: 127,137,922 (GRCm39)	T1091S	probably benign	Het
Tep1	A	T	14: 51,084,457 (GRCm39)	N907K	probably benign	Het
Themis2	A	G	4: 132,513,291 (GRCm39)	Y312H	probably benign	Het
Tubgcp5	T	G	7: 55,473,357 (GRCm39)	S812A	probably benign	Het
Ush2a	A	T	1: 188,582,237 (GRCm39)	I3767F	probably damaging	Het
Usp40	T	A	1: 87,907,738 (GRCm39)	E626V	probably damaging	Het
Utrn	T	C	10: 12,566,620 (GRCm39)	R1181G	probably benign	Het
Vmn2r117	T	A	17: 23,698,535 (GRCm39)	I13F	probably damaging	Het
Wdr48	G	T	9: 119,753,775 (GRCm39)	V646F	probably damaging	Het
Wdr64	T	C	1: 175,633,556 (GRCm39)	F936L	possibly damaging	Het

Other mutations in Syt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Syt14	APN	1	192,612,792 (GRCm39)	missense	possibly damaging	0.88
IGL01535:Syt14	APN	1	192,669,073 (GRCm39)	missense	probably damaging	1.00
IGL01935:Syt14	APN	1	192,615,679 (GRCm39)	missense	probably damaging	0.99
IGL02531:Syt14	APN	1	192,584,242 (GRCm39)	makesense	probably null
IGL02716:Syt14	APN	1	192,662,843 (GRCm39)	missense	possibly damaging	0.92
IGL03051:Syt14	APN	1	192,615,528 (GRCm39)	missense	probably benign	0.19
IGL03268:Syt14	APN	1	192,669,142 (GRCm39)	missense	probably benign	0.25
crumpled	UTSW	1	192,584,177 (GRCm39)	missense	possibly damaging	0.82
R0542:Syt14	UTSW	1	192,613,111 (GRCm39)	missense	probably damaging	1.00
R0598:Syt14	UTSW	1	192,579,622 (GRCm39)	missense	probably damaging	1.00
R1533:Syt14	UTSW	1	192,613,084 (GRCm39)	missense	possibly damaging	0.94
R1675:Syt14	UTSW	1	192,579,790 (GRCm39)	missense	probably damaging	1.00
R1907:Syt14	UTSW	1	192,584,143 (GRCm39)	missense	probably damaging	1.00
R3032:Syt14	UTSW	1	192,669,059 (GRCm39)	missense	possibly damaging	0.86
R3828:Syt14	UTSW	1	192,584,083 (GRCm39)	missense	probably damaging	1.00
R3965:Syt14	UTSW	1	192,584,175 (GRCm39)	missense	probably benign	0.04
R4646:Syt14	UTSW	1	192,615,633 (GRCm39)	missense	probably damaging	1.00
R4730:Syt14	UTSW	1	192,613,094 (GRCm39)	missense	probably damaging	1.00
R4909:Syt14	UTSW	1	192,581,167 (GRCm39)	missense	probably damaging	1.00
R4970:Syt14	UTSW	1	192,613,285 (GRCm39)	intron	probably benign
R5039:Syt14	UTSW	1	192,709,292 (GRCm39)	missense	probably damaging	1.00
R5363:Syt14	UTSW	1	192,612,971 (GRCm39)	missense	possibly damaging	0.94
R5593:Syt14	UTSW	1	192,613,231 (GRCm39)	missense	probably damaging	1.00
R5980:Syt14	UTSW	1	192,662,716 (GRCm39)	missense	possibly damaging	0.89
R6221:Syt14	UTSW	1	192,612,908 (GRCm39)	missense	probably damaging	1.00
R6547:Syt14	UTSW	1	192,584,177 (GRCm39)	missense	possibly damaging	0.82
R6804:Syt14	UTSW	1	192,584,161 (GRCm39)	missense	probably damaging	1.00
R7038:Syt14	UTSW	1	192,665,966 (GRCm39)	intron	probably benign
R7179:Syt14	UTSW	1	192,615,571 (GRCm39)	missense	probably damaging	1.00
R7196:Syt14	UTSW	1	192,717,936 (GRCm39)	missense	probably benign	0.01
R7311:Syt14	UTSW	1	192,662,858 (GRCm39)	missense	probably benign
R7577:Syt14	UTSW	1	192,665,885 (GRCm39)	missense	unknown
R7769:Syt14	UTSW	1	192,666,632 (GRCm39)	missense	unknown
R7779:Syt14	UTSW	1	192,666,751 (GRCm39)	missense	unknown
R8213:Syt14	UTSW	1	192,669,137 (GRCm39)	missense	probably benign	0.00
R8888:Syt14	UTSW	1	192,579,866 (GRCm39)	missense	probably damaging	1.00
R8939:Syt14	UTSW	1	192,612,896 (GRCm39)	missense	probably damaging	1.00
R8960:Syt14	UTSW	1	192,666,515 (GRCm39)	intron	probably benign
R9109:Syt14	UTSW	1	192,612,944 (GRCm39)	nonsense	probably null
R9117:Syt14	UTSW	1	192,666,126 (GRCm39)	missense	unknown
R9127:Syt14	UTSW	1	192,584,131 (GRCm39)	missense	probably damaging	0.98
R9213:Syt14	UTSW	1	192,612,814 (GRCm39)	missense	probably damaging	0.97
R9298:Syt14	UTSW	1	192,612,944 (GRCm39)	nonsense	probably null
R9741:Syt14	UTSW	1	192,666,449 (GRCm39)	missense	unknown
Z1176:Syt14	UTSW	1	192,615,506 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TATGAAGGTTCCAGTATCACCGG -3'
(R):5'- CTTTTGATCCAGAGCCAGAAGC -3'

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

Posted On

2017-06-26