Mutagenetix > Incidental Mutation

Incidental Mutation 'R0701:Syt16'

63025

Institutional Source

Beutler Lab

Gene Symbol

Syt16

Ensembl Gene

ENSMUSG00000044912

Gene Name

synaptotagmin XVI

Synonyms

syt14r, Strep14, Syt14l

MMRRC Submission

038884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0701 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

74044490-74314690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74281886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 337 (V337I)

Ref Sequence

ENSEMBL: ENSMUSP00000152623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110451] [ENSMUST00000221220]

AlphaFold

Q7TN83

Predicted Effect

probably benign
Transcript: ENSMUST00000110451

SMART Domains

Protein: ENSMUSP00000106081
Gene: ENSMUSG00000044912

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
low complexity region	70	83	N/A	INTRINSIC
C2	270	372	8.91e-4	SMART
low complexity region	386	407	N/A	INTRINSIC
C2	425	541	7.07e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189898

Predicted Effect

probably benign
Transcript: ENSMUST00000221220
AA Change: V337I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,571,995 (GRCm39)	V261A	probably benign	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Bach1	G	A	16: 87,516,877 (GRCm39)	E473K	probably damaging	Het
Bsph1	G	T	7: 13,206,181 (GRCm39)	C72F	probably damaging	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
C9	A	C	15: 6,496,902 (GRCm39)	T200P	probably damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Copg1	T	A	6: 87,871,089 (GRCm39)	Y268*	probably null	Het
Csad	A	G	15: 102,087,571 (GRCm39)	S331P	probably benign	Het
Ddx31	G	T	2: 28,748,789 (GRCm39)	R239L	probably null	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Fig4	T	A	10: 41,116,508 (GRCm39)	R628*	probably null	Het
Fmnl3	T	C	15: 99,219,188 (GRCm39)	N778S	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Haus3	G	A	5: 34,323,359 (GRCm39)	T417M	probably benign	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Hoxb3	C	A	11: 96,237,074 (GRCm39)	S384*	probably null	Het
Ifnar2	A	G	16: 91,201,117 (GRCm39)	T453A	possibly damaging	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Lrriq1	A	T	10: 103,069,905 (GRCm39)	V37E	probably benign	Het
Lrrn4	G	A	2: 132,712,080 (GRCm39)	T581M	probably benign	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Mdn1	T	A	4: 32,699,263 (GRCm39)	D1313E	probably benign	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Mlh3	A	T	12: 85,314,677 (GRCm39)	I503K	probably benign	Het
Nckap5	A	G	1: 125,953,094 (GRCm39)	F1089L	probably benign	Het
Or1e35	A	T	11: 73,797,655 (GRCm39)	I221N	probably damaging	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Pdgfd	A	T	9: 6,359,706 (GRCm39)	D259V	probably damaging	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab27b	A	T	18: 70,118,270 (GRCm39)	C216S	probably damaging	Het
Robo2	A	G	16: 73,843,762 (GRCm39)	I151T	probably damaging	Het
Sh2d4a	A	G	8: 68,783,747 (GRCm39)	D227G	probably damaging	Het
Sis	G	T	3: 72,848,378 (GRCm39)	T632K	probably damaging	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Stap1	T	C	5: 86,242,667 (GRCm39)		probably null	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Ttn	A	G	2: 76,728,412 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp6nl	A	G	2: 6,419,829 (GRCm39)	E144G	possibly damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zap70	G	A	1: 36,820,258 (GRCm39)	R513Q	probably damaging	Het

Other mutations in Syt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Syt16	APN	12	74,269,604 (GRCm39)	nonsense	probably null
IGL01287:Syt16	APN	12	74,313,513 (GRCm39)	missense	probably damaging	1.00
IGL01401:Syt16	APN	12	74,269,437 (GRCm39)	missense	possibly damaging	0.66
IGL01780:Syt16	APN	12	74,313,616 (GRCm39)	missense	probably benign	0.15
IGL02350:Syt16	APN	12	74,313,616 (GRCm39)	missense	probably benign	0.15
IGL02353:Syt16	APN	12	74,176,245 (GRCm39)	missense	probably damaging	1.00
IGL02357:Syt16	APN	12	74,313,616 (GRCm39)	missense	probably benign	0.15
IGL02360:Syt16	APN	12	74,176,245 (GRCm39)	missense	probably damaging	1.00
IGL02558:Syt16	APN	12	74,281,832 (GRCm39)	nonsense	probably null
IGL02696:Syt16	APN	12	74,176,185 (GRCm39)	missense	possibly damaging	0.90
R1103:Syt16	UTSW	12	74,313,672 (GRCm39)	missense	probably damaging	1.00
R2002:Syt16	UTSW	12	74,281,977 (GRCm39)	missense	possibly damaging	0.77
R2079:Syt16	UTSW	12	74,285,073 (GRCm39)	missense	probably damaging	1.00
R2124:Syt16	UTSW	12	74,285,009 (GRCm39)	missense	probably damaging	1.00
R3806:Syt16	UTSW	12	74,276,172 (GRCm39)	missense	possibly damaging	0.93
R3807:Syt16	UTSW	12	74,276,172 (GRCm39)	missense	possibly damaging	0.93
R4887:Syt16	UTSW	12	74,176,160 (GRCm39)	missense	probably damaging	0.96
R4889:Syt16	UTSW	12	74,176,269 (GRCm39)	missense	probably damaging	0.98
R5153:Syt16	UTSW	12	74,269,542 (GRCm39)	missense	possibly damaging	0.60
R6038:Syt16	UTSW	12	74,269,309 (GRCm39)	splice site	probably null
R6042:Syt16	UTSW	12	74,313,504 (GRCm39)	missense	probably damaging	1.00
R6328:Syt16	UTSW	12	74,313,467 (GRCm39)	nonsense	probably null
R6752:Syt16	UTSW	12	74,275,987 (GRCm39)	critical splice acceptor site	probably null
R7248:Syt16	UTSW	12	74,313,483 (GRCm39)	missense	probably damaging	1.00
R7275:Syt16	UTSW	12	74,313,483 (GRCm39)	missense	probably damaging	1.00
R7276:Syt16	UTSW	12	74,313,483 (GRCm39)	missense	probably damaging	1.00
R9058:Syt16	UTSW	12	74,282,019 (GRCm39)	missense	probably damaging	0.99
Z1177:Syt16	UTSW	12	74,269,563 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTAACCCAGAAGCTCACTGTGACC -3'
(R):5'- TGTAAATCAAGGGCTGACAATCCCG -3'

Sequencing Primer
(F):5'- CACTGTGACCATTGTGAGAGC -3'
(R):5'- GGTCTTTGAACACACCGC -3'

Posted On

2013-07-30