Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02357:Syt16'

290567

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt16

Ensembl Gene

ENSMUSG00000044912

Gene Name

synaptotagmin XVI

Synonyms

syt14r, Strep14, Syt14l

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

74044490-74314690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74313616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 514 (V514A)

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

probably benign
Transcript: ENSMUST00000221220
AA Change: V514A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Adamts16	T	A	13: 70,886,704 (GRCm39)	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,418,974 (GRCm39)	C6007F	probably benign	Het
Ak8	A	T	2: 28,590,225 (GRCm39)	H8L	probably benign	Het
Apol7b	A	G	15: 77,307,832 (GRCm39)	V221A	probably benign	Het
BC005624	G	A	2: 30,863,779 (GRCm39)	P235S	probably benign	Het
Casp9	C	A	4: 141,532,783 (GRCm39)	D226E	probably benign	Het
Cd96	A	G	16: 45,890,139 (GRCm39)		probably benign	Het
Celf1	A	T	2: 90,828,933 (GRCm39)	K27I	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,016,152 (GRCm39)	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,237,067 (GRCm39)	N645K	possibly damaging	Het
Fes	T	C	7: 80,033,578 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,790,702 (GRCm39)	I27F	probably damaging	Het
Hecw1	A	G	13: 14,422,923 (GRCm39)		probably null	Het
Hook2	C	T	8: 85,721,614 (GRCm39)	Q291*	probably null	Het
Jakmip2	T	C	18: 43,680,192 (GRCm39)	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Ngdn	T	A	14: 55,259,393 (GRCm39)	V179E	probably damaging	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or10am5	T	A	7: 6,518,225 (GRCm39)	M68L	probably damaging	Het
Or2b7	A	G	13: 21,739,772 (GRCm39)	L140P	probably damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Plcb3	A	C	19: 6,935,546 (GRCm39)	L789R	probably damaging	Het
Plek	C	T	11: 16,931,846 (GRCm39)	R335H	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Prss1	C	A	6: 41,440,139 (GRCm39)	Q159K	probably damaging	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351 (GRCm39)	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Slc22a22	A	G	15: 57,110,844 (GRCm39)	V461A	probably benign	Het
Slc35e4	C	T	11: 3,862,640 (GRCm39)	R183Q	probably benign	Het
Spen	T	C	4: 141,204,890 (GRCm39)	T1246A	unknown	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,511,593 (GRCm39)	D245G	probably benign	Het
Ttn	A	G	2: 76,539,963 (GRCm39)	V34341A	probably benign	Het
Vxn	T	C	1: 9,683,544 (GRCm39)	I44T	possibly damaging	Het
Wwox	T	C	8: 115,438,882 (GRCm39)	V316A	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
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
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

Posted On

2015-04-16