Mutagenetix > Incidental Mutation

Incidental Mutation 'R4889:Syt16'

377208

Institutional Source

Beutler Lab

Gene Symbol

Syt16

Ensembl Gene

ENSMUSG00000044912

Gene Name

synaptotagmin XVI

Synonyms

syt14r, Strep14, Syt14l

MMRRC Submission

042494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74044490-74314690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74176269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 46 (E46G)

Ref Sequence

ENSEMBL: ENSMUSP00000106081 (fasta)

Gene Model

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

AlphaFold

Q7TN83

Predicted Effect

probably damaging
Transcript: ENSMUST00000110451
AA Change: E46G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106081
Gene: ENSMUSG00000044912
AA Change: E46G

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: ENSMUST00000221073

Predicted Effect

probably benign
Transcript: ENSMUST00000221220
AA Change: E46G

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221973

Meta Mutation Damage Score

0.1578

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	G	C	10: 67,384,135 (GRCm39)	R157G	probably benign	Het
Akap12	C	A	10: 4,306,535 (GRCm39)	A1115E	probably damaging	Het
Ankhd1	A	G	18: 36,711,787 (GRCm39)	M196V	probably null	Het
Appl2	G	A	10: 83,476,922 (GRCm39)	T34I	probably damaging	Het
Arhgap21	T	C	2: 20,885,279 (GRCm39)	S472G	probably benign	Het
Asmt	G	T	X: 169,110,764 (GRCm39)	R250L	possibly damaging	Het
Baz2b	A	T	2: 59,767,070 (GRCm39)	I870N	probably damaging	Het
Card11	T	C	5: 140,871,700 (GRCm39)	Q667R	possibly damaging	Het
Cercam	A	G	2: 29,771,845 (GRCm39)	D555G	probably damaging	Het
Cop1	A	T	1: 159,112,159 (GRCm39)	R284S	probably damaging	Het
Cr2	A	G	1: 194,858,893 (GRCm39)	V9A	possibly damaging	Het
Ctsm	A	G	13: 61,686,215 (GRCm39)	F106S	probably damaging	Het
Dhx9	A	T	1: 153,356,895 (GRCm39)	L118Q	probably damaging	Het
Dnah5	G	T	15: 28,235,938 (GRCm39)	C355F	probably benign	Het
Dock1	C	A	7: 134,346,705 (GRCm39)	N212K	probably benign	Het
Efemp2	T	A	19: 5,525,148 (GRCm39)	L18Q	probably null	Het
Flvcr1	A	G	1: 190,757,764 (GRCm39)	L176P	probably damaging	Het
Gm16505	A	T	13: 3,411,125 (GRCm39)		noncoding transcript	Het
Gm6457	A	T	18: 14,703,501 (GRCm39)		noncoding transcript	Het
Gnptab	A	G	10: 88,269,775 (GRCm39)	N826S	probably benign	Het
Hdc	T	G	2: 126,436,053 (GRCm39)	N606T	probably benign	Het
Itga3	T	C	11: 94,959,127 (GRCm39)	D113G	probably benign	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Mkrn1	A	T	6: 39,396,939 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,723,238 (GRCm39)	V720A	probably damaging	Het
Nkx3-1	G	A	14: 69,428,447 (GRCm39)		probably null	Het
Npat	T	C	9: 53,473,507 (GRCm39)	I433T	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10ag53	A	T	2: 87,082,991 (GRCm39)	I237F	probably damaging	Het
Or1l4	A	G	2: 37,092,057 (GRCm39)	Y268C	probably damaging	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Pde6c	T	A	19: 38,121,599 (GRCm39)	M69K	probably benign	Het
Pde7b	T	C	10: 20,423,823 (GRCm39)	T18A	probably benign	Het
Plcz1	T	C	6: 139,953,474 (GRCm39)	K381R	probably benign	Het
Ppfia4	A	C	1: 134,228,252 (GRCm39)	F1095V	probably damaging	Het
Sfxn3	T	C	19: 45,038,254 (GRCm39)	F78S	probably damaging	Het
Sim1	A	T	10: 50,857,420 (GRCm39)	Y390F	probably benign	Het
Slc25a31	A	G	3: 40,675,975 (GRCm39)	I174V	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco1b2	T	G	6: 141,602,469 (GRCm39)		probably benign	Het
Smarca5	C	A	8: 81,431,326 (GRCm39)	D964Y	possibly damaging	Het
Sptbn2	T	A	19: 4,779,458 (GRCm39)	S338R	possibly damaging	Het
Srcap	T	C	7: 127,137,719 (GRCm39)	V1023A	possibly damaging	Het
Tas2r114	A	T	6: 131,666,758 (GRCm39)	I90K	probably damaging	Het
Tlx1	G	T	19: 45,139,418 (GRCm39)	D22Y	probably damaging	Het
Vamp8	G	A	6: 72,362,522 (GRCm39)	L93F	possibly damaging	Het
Vill	T	C	9: 118,892,409 (GRCm39)	S347P	possibly damaging	Het
Zfp974	A	G	7: 27,610,244 (GRCm39)	Y494H	possibly 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
R0701:Syt16	UTSW	12	74,281,886 (GRCm39)	missense	probably benign	0.01
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
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'- TTTGGGTCCCTATAATAGTGATGAC -3'
(R):5'- GCTAATGTACCCTTTAGAGGTGC -3'

Sequencing Primer
(F):5'- GGCTTCCTGTCTGCAATT -3'
(R):5'- GTACCCTTTAGAGGTGCCATTTATC -3'

Posted On

2016-03-17