Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01135:Syt17'

51633

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt17

Ensembl Gene

ENSMUSG00000058420

Gene Name

synaptotagmin XVII

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

118380717-118448222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118382047 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 351 (G351S)

Ref Sequence

ENSEMBL: ENSMUSP00000145087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203796]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081574
AA Change: G408S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: G408S

Domain	Start	End	E-Value	Type
low complexity region	90	102	N/A	INTRINSIC
low complexity region	103	118	N/A	INTRINSIC
low complexity region	159	172	N/A	INTRINSIC
C2	196	305	7.92e-19	SMART
low complexity region	315	328	N/A	INTRINSIC
C2	333	448	2.8e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203465
AA Change: G407S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203796
AA Change: G351S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: G351S

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
low complexity region	46	61	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
C2	139	248	5.2e-21	SMART
low complexity region	258	271	N/A	INTRINSIC
C2	276	391	1.9e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Syt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Syt17	APN	7	118434290	missense	probably damaging	0.98
IGL01331:Syt17	APN	7	118408166	missense	probably damaging	0.99
IGL01610:Syt17	APN	7	118433993	missense	possibly damaging	0.90
IGL01776:Syt17	APN	7	118409953	missense	probably damaging	0.99
IGL02125:Syt17	APN	7	118409974	missense	probably benign	0.01
IGL02819:Syt17	APN	7	118409920	splice site	probably benign
H8562:Syt17	UTSW	7	118408069	missense	probably benign	0.01
R0127:Syt17	UTSW	7	118409941	missense	probably damaging	0.98
R0328:Syt17	UTSW	7	118381993	missense	probably benign	0.28
R1789:Syt17	UTSW	7	118436838	missense	probably benign	0.00
R1872:Syt17	UTSW	7	118408118	missense	probably benign	0.00
R1878:Syt17	UTSW	7	118434245	missense	probably benign	0.01
R1918:Syt17	UTSW	7	118433985	missense	possibly damaging	0.54
R2133:Syt17	UTSW	7	118382047	missense	possibly damaging	0.92
R3777:Syt17	UTSW	7	118433957	missense	probably damaging	1.00
R4471:Syt17	UTSW	7	118436817	splice site	probably null
R4472:Syt17	UTSW	7	118436817	splice site	probably null
R4567:Syt17	UTSW	7	118434272	missense	probably benign	0.06
R5211:Syt17	UTSW	7	118442403	missense	probably benign	0.19
R5905:Syt17	UTSW	7	118436918	missense	probably benign	0.10
R6054:Syt17	UTSW	7	118408133	missense	possibly damaging	0.91
R6276:Syt17	UTSW	7	118434290	missense	probably damaging	0.98
R6332:Syt17	UTSW	7	118434243	missense	probably benign	0.00
R7022:Syt17	UTSW	7	118408019	missense	probably benign	0.00
R7440:Syt17	UTSW	7	118381884	missense	probably damaging	1.00

Posted On

2013-06-21