Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01780:Syt16'

154142

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 #

IGL01780

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Aopep	A	G	13: 63,357,939 (GRCm39)	N648D	probably benign	Het
BC024139	C	A	15: 76,005,343 (GRCm39)	L506F	probably benign	Het
Bltp3a	T	C	17: 28,112,474 (GRCm39)	L1221P	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
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Eml6	T	C	11: 29,755,175 (GRCm39)	M867V	probably benign	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
Gmds	A	T	13: 32,409,145 (GRCm39)	Y106*	probably null	Het
Homez	T	C	14: 55,095,355 (GRCm39)	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,667,507 (GRCm39)	T344I	probably benign	Het
Kcnt2	A	G	1: 140,279,007 (GRCm39)	I53V	probably benign	Het
Krt13	A	T	11: 100,010,539 (GRCm39)	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,316,528 (GRCm39)	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mrgpra6	T	C	7: 46,838,497 (GRCm39)	T234A	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
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or8w1	T	C	2: 87,465,424 (GRCm39)	I222M	possibly damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Patl2	A	C	2: 121,952,327 (GRCm39)	S468R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,575 (GRCm39)	S509P	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
Rasgrp1	A	G	2: 117,115,359 (GRCm39)	L743P	probably benign	Het
Rpusd4	G	A	9: 35,179,720 (GRCm39)	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,313,977 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,725 (GRCm39)	T280A	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tenm2	A	G	11: 35,937,768 (GRCm39)	M1635T	probably benign	Het
Vmn1r195	A	G	13: 22,463,255 (GRCm39)	T242A	probably benign	Het
Zfp423	A	G	8: 88,508,136 (GRCm39)	V736A	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
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
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

2014-02-04