Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Syt14'

636235

Institutional Source

Beutler Lab

Gene Symbol

Syt14

Ensembl Gene

ENSMUSG00000016200

Gene Name

synaptotagmin XIV

Synonyms

B230320I09Rik

MMRRC Submission

067655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192573541-192718083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 192669137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 39 (M39V)

Ref Sequence

ENSEMBL: ENSMUSP00000016344 (fasta)

Gene Model

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

AlphaFold

Q7TN84

Predicted Effect

probably benign
Transcript: ENSMUST00000016344
AA Change: M39V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016344
Gene: ENSMUSG00000016200
AA Change: M39V

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: ENSMUST00000195354
AA Change: M39V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142190
Gene: ENSMUSG00000016200
AA Change: M39V

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

possibly damaging
Transcript: ENSMUST00000195530
AA Change: M39V

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141563
Gene: ENSMUSG00000016200
AA Change: M39V

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

Meta Mutation Damage Score

0.0799

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Acss1	T	A	2: 150,461,630 (GRCm39)	D651V	possibly damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or10a49	C	A	7: 108,467,726 (GRCm39)	V212L	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,073,256 (GRCm39)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,594,536 (GRCm39)	I228V	probably benign	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zfp397	T	A	18: 24,093,779 (GRCm39)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	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
R6014:Syt14	UTSW	1	192,613,003 (GRCm39)	missense	probably damaging	0.99
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
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'- CCAGGCTATTTCTCTTAATGCAGTATC -3'
(R):5'- CACTTTGTGGGGTTTCTTACAAAC -3'

Sequencing Primer
(F):5'- AAAGTTGGCCTTCTCATAGCAC -3'
(R):5'- GCGTATACTGGGAAATTCCT -3'

Posted On

2020-07-13