Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02072:Sytl5'

185879

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sytl5

Ensembl Gene

ENSMUSG00000054453

Gene Name

synaptotagmin-like 5

Synonyms

ENSMUSG00000054453

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02072

Quality Score

Status

Chromosome

Chromosomal Location

9751861-9860782 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 9829825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067529] [ENSMUST00000086165]

AlphaFold

Q80T23

Predicted Effect

probably benign
Transcript: ENSMUST00000067529

SMART Domains

Protein: ENSMUSP00000064826
Gene: ENSMUSG00000054453

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	11	124	6.9e-21	PFAM
low complexity region	224	237	N/A	INTRINSIC
low complexity region	313	332	N/A	INTRINSIC
C2	445	549	1.51e-15	SMART
low complexity region	593	610	N/A	INTRINSIC
C2	611	728	1.86e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086165

SMART Domains

Protein: ENSMUSP00000083339
Gene: ENSMUSG00000054453

Domain	Start	End	E-Value	Type
Pfam:FYVE_2	11	124	2.1e-21	PFAM
low complexity region	224	237	N/A	INTRINSIC
low complexity region	313	332	N/A	INTRINSIC
C2	423	527	1.51e-15	SMART
low complexity region	571	588	N/A	INTRINSIC
C2	589	706	1.86e-15	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,371,096 (GRCm39)	S2251P	probably benign	Het
C1qtnf6	T	A	15: 78,411,551 (GRCm39)	K42*	probably null	Het
Ddx20	A	T	3: 105,587,943 (GRCm39)	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,644,986 (GRCm39)	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,926,788 (GRCm39)	N179K	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fancg	A	C	4: 43,007,062 (GRCm39)	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,721,031 (GRCm39)	I110V	probably damaging	Het
G6pd2	A	T	5: 61,966,753 (GRCm39)	D176V	probably damaging	Het
Gm5114	A	G	7: 39,060,826 (GRCm39)	S8P	probably benign	Het
Hoxa1	T	A	6: 52,133,878 (GRCm39)	M283L	probably damaging	Het
Hspbp1	A	T	7: 4,680,720 (GRCm39)	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,231,808 (GRCm39)	D319E	probably benign	Het
Kdm6a	A	G	X: 18,120,528 (GRCm39)	T737A	probably benign	Het
Kmt2c	A	T	5: 25,610,430 (GRCm39)	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,359,107 (GRCm39)	Y274*	probably null	Het
Lratd2	A	G	15: 60,695,302 (GRCm39)	L148P	probably damaging	Het
Mamdc4	A	G	2: 25,458,351 (GRCm39)	L353P	probably damaging	Het
Mid2	T	A	X: 139,637,201 (GRCm39)	H258Q	probably damaging	Het
Msh3	A	C	13: 92,436,803 (GRCm39)	N502K	probably damaging	Het
Nalcn	T	C	14: 123,560,770 (GRCm39)	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Notch3	G	A	17: 32,366,048 (GRCm39)	Q1018*	probably null	Het
Oas1e	A	G	5: 120,929,846 (GRCm39)		probably null	Het
Or4f14d	A	T	2: 111,960,426 (GRCm39)	H243Q	probably damaging	Het
Or7g34	A	G	9: 19,478,245 (GRCm39)	I145T	probably benign	Het
Plekha4	T	A	7: 45,187,722 (GRCm39)	F265I	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc9a3	T	C	13: 74,313,978 (GRCm39)	I762T	probably benign	Het
Spag1	C	A	15: 36,190,658 (GRCm39)	P158Q	probably damaging	Het
Spout1	G	A	2: 30,067,938 (GRCm39)	Q26*	probably null	Het
Sulf1	T	C	1: 12,918,432 (GRCm39)	Y50H	probably damaging	Het
Tcof1	T	C	18: 60,964,637 (GRCm39)	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,265,148 (GRCm39)	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,244,860 (GRCm39)	C183F	probably damaging	Het
Ubqln3	A	T	7: 103,790,506 (GRCm39)	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,848,368 (GRCm39)	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,009,144 (GRCm39)	V70A	probably benign	Het

Other mutations in Sytl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Sytl5	APN	X	9,771,834 (GRCm39)	missense	probably benign
IGL03366:Sytl5	APN	X	9,829,939 (GRCm39)	missense	probably damaging	1.00
H8562:Sytl5	UTSW	X	9,826,335 (GRCm39)	missense	probably benign	0.35
R0729:Sytl5	UTSW	X	9,860,736 (GRCm39)	missense	probably damaging	1.00
R4429:Sytl5	UTSW	X	9,826,262 (GRCm39)	missense	probably damaging	1.00
R4430:Sytl5	UTSW	X	9,826,262 (GRCm39)	missense	probably damaging	1.00
R4431:Sytl5	UTSW	X	9,826,262 (GRCm39)	missense	probably damaging	1.00
R4910:Sytl5	UTSW	X	9,781,841 (GRCm39)	missense	possibly damaging	0.51
R4911:Sytl5	UTSW	X	9,781,841 (GRCm39)	missense	possibly damaging	0.51

Posted On

2014-05-07