Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02125:Syt17'

280829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt17

Ensembl Gene

ENSMUSG00000058420

Gene Name

synaptotagmin XVII

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02125

Quality Score

Status

Chromosome

Chromosomal Location

117979940-118047445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118009197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 341 (D341G)

Ref Sequence

ENSEMBL: ENSMUSP00000144987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081574] [ENSMUST00000203465] [ENSMUST00000203485] [ENSMUST00000203796]

AlphaFold

Q920M7

Predicted Effect

probably benign
Transcript: ENSMUST00000081574
AA Change: D337G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: D337G

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

probably benign
Transcript: ENSMUST00000203465
AA Change: D336G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000203485
AA Change: D341G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: D341G

Domain	Start	End	E-Value	Type
low complexity region	94	106	N/A	INTRINSIC
low complexity region	107	122	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
C2	200	309	5.2e-21	SMART
low complexity region	319	332	N/A	INTRINSIC
C2	337	419	3.1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203796
AA Change: D280G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: D280G

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,324,974 (GRCm39)	C493*	probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd12	A	G	17: 66,277,139 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,506,413 (GRCm39)	T213I	probably damaging	Het
Baz2b	A	G	2: 59,798,984 (GRCm39)	L380S	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cacna2d2	C	T	9: 107,391,103 (GRCm39)	Q411*	probably null	Het
Cdh19	A	G	1: 110,857,614 (GRCm39)	V240A	possibly damaging	Het
Cltc	A	T	11: 86,595,636 (GRCm39)		probably benign	Het
Dclk3	T	A	9: 111,298,175 (GRCm39)	V573E	probably damaging	Het
Dhx29	T	C	13: 113,091,834 (GRCm39)		probably benign	Het
Dip2b	T	C	15: 100,084,131 (GRCm39)	L918P	possibly damaging	Het
Dzip3	A	T	16: 48,747,959 (GRCm39)	N1150K	probably damaging	Het
Fgf5	T	C	5: 98,402,391 (GRCm39)	S41P	possibly damaging	Het
Galc	A	T	12: 98,197,768 (GRCm39)	Y120N	probably damaging	Het
Gldc	T	C	19: 30,124,641 (GRCm39)	N219S	probably benign	Het
Gm11563	A	T	11: 99,549,631 (GRCm39)	V41E	unknown	Het
Gpatch11	T	A	17: 79,147,538 (GRCm39)	N106K	probably benign	Het
Gpx3	A	G	11: 54,798,068 (GRCm39)	N68S	probably damaging	Het
Ibtk	T	C	9: 85,617,123 (GRCm39)	N150D	probably damaging	Het
Iglc2	G	A	16: 19,017,462 (GRCm39)	P48S	probably benign	Het
Itih5	G	A	2: 10,245,798 (GRCm39)	R629H	probably benign	Het
Kank1	T	A	19: 25,388,067 (GRCm39)	V552E	possibly damaging	Het
Kmt2a	T	A	9: 44,759,983 (GRCm39)	H655L	probably damaging	Het
Mme	A	T	3: 63,256,070 (GRCm39)	N510I	probably damaging	Het
Mrtfb	A	G	16: 13,218,047 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,913,188 (GRCm39)	I6943T	probably damaging	Het
Obscn	G	T	11: 58,984,152 (GRCm39)	Q1768K	possibly damaging	Het
Or51k2	T	A	7: 103,596,279 (GRCm39)	C169S	probably damaging	Het
Or5ac25	T	C	16: 59,181,879 (GRCm39)	N234S	probably benign	Het
Otud3	A	T	4: 138,624,025 (GRCm39)		probably null	Het
Parp4	A	G	14: 56,827,959 (GRCm39)	K237E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pttg1ip2	T	C	5: 5,500,644 (GRCm39)	*151W	probably null	Het
Rbbp6	T	C	7: 122,570,352 (GRCm39)		probably null	Het
Rdh16	G	T	10: 127,647,188 (GRCm39)		probably benign	Het
Ropn1	A	G	16: 34,487,147 (GRCm39)	T28A	probably benign	Het
Sec24d	T	C	3: 123,152,607 (GRCm39)	V873A	probably damaging	Het
Serpinb3b	T	A	1: 107,082,474 (GRCm39)	L263F	probably damaging	Het
Shq1	T	C	6: 100,607,967 (GRCm39)	T315A	probably benign	Het
Slc13a4	T	C	6: 35,255,223 (GRCm39)	E355G	probably benign	Het
Slc26a9	T	C	1: 131,687,175 (GRCm39)	S445P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc4a10	A	T	2: 62,098,515 (GRCm39)	M550L	probably benign	Het
Spata31e5	T	C	1: 28,815,419 (GRCm39)	N871S	possibly damaging	Het
Tmem62	A	G	2: 120,826,993 (GRCm39)	Y430C	probably benign	Het
Upp1	A	G	11: 9,075,650 (GRCm39)		probably benign	Het
Vmn1r91	T	G	7: 19,835,429 (GRCm39)	V116G	probably damaging	Het
Vmn2r101	A	T	17: 19,809,963 (GRCm39)	I250F	possibly damaging	Het
Vmn2r116	T	G	17: 23,616,601 (GRCm39)		probably benign	Het
Vmn2r72	C	T	7: 85,399,919 (GRCm39)	V377I	probably benign	Het
Zfp592	G	T	7: 80,687,932 (GRCm39)	A953S	probably benign	Het

Other mutations in Syt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Syt17	APN	7	118,033,513 (GRCm39)	missense	probably damaging	0.98
IGL01135:Syt17	APN	7	117,981,270 (GRCm39)	missense	possibly damaging	0.92
IGL01331:Syt17	APN	7	118,007,389 (GRCm39)	missense	probably damaging	0.99
IGL01610:Syt17	APN	7	118,033,216 (GRCm39)	missense	possibly damaging	0.90
IGL01776:Syt17	APN	7	118,009,176 (GRCm39)	missense	probably damaging	0.99
IGL02819:Syt17	APN	7	118,009,143 (GRCm39)	splice site	probably benign
H8562:Syt17	UTSW	7	118,007,292 (GRCm39)	missense	probably benign	0.01
R0127:Syt17	UTSW	7	118,009,164 (GRCm39)	missense	probably damaging	0.98
R0328:Syt17	UTSW	7	117,981,216 (GRCm39)	missense	probably benign	0.28
R1789:Syt17	UTSW	7	118,036,061 (GRCm39)	missense	probably benign	0.00
R1872:Syt17	UTSW	7	118,007,341 (GRCm39)	missense	probably benign	0.00
R1878:Syt17	UTSW	7	118,033,468 (GRCm39)	missense	probably benign	0.01
R1918:Syt17	UTSW	7	118,033,208 (GRCm39)	missense	possibly damaging	0.54
R2133:Syt17	UTSW	7	117,981,270 (GRCm39)	missense	possibly damaging	0.92
R3777:Syt17	UTSW	7	118,033,180 (GRCm39)	missense	probably damaging	1.00
R4471:Syt17	UTSW	7	118,036,040 (GRCm39)	splice site	probably null
R4472:Syt17	UTSW	7	118,036,040 (GRCm39)	splice site	probably null
R4567:Syt17	UTSW	7	118,033,495 (GRCm39)	missense	probably benign	0.06
R5211:Syt17	UTSW	7	118,041,626 (GRCm39)	missense	probably benign	0.19
R5905:Syt17	UTSW	7	118,036,141 (GRCm39)	missense	probably benign	0.10
R6054:Syt17	UTSW	7	118,007,356 (GRCm39)	missense	possibly damaging	0.91
R6276:Syt17	UTSW	7	118,033,513 (GRCm39)	missense	probably damaging	0.98
R6332:Syt17	UTSW	7	118,033,466 (GRCm39)	missense	probably benign	0.00
R7022:Syt17	UTSW	7	118,007,242 (GRCm39)	missense	probably benign	0.00
R7440:Syt17	UTSW	7	117,981,107 (GRCm39)	missense	probably damaging	1.00
R7610:Syt17	UTSW	7	118,033,682 (GRCm39)	splice site	probably null
R7845:Syt17	UTSW	7	118,009,194 (GRCm39)	missense	possibly damaging	0.79
R8294:Syt17	UTSW	7	118,009,228 (GRCm39)	missense	probably damaging	0.99
R8296:Syt17	UTSW	7	118,036,069 (GRCm39)	missense	probably damaging	0.97
R8429:Syt17	UTSW	7	118,033,564 (GRCm39)	missense	probably benign
R8949:Syt17	UTSW	7	118,033,054 (GRCm39)	critical splice donor site	probably null
R9278:Syt17	UTSW	7	118,033,480 (GRCm39)	missense	probably damaging	1.00
R9622:Syt17	UTSW	7	118,036,191 (GRCm39)	missense	probably benign
R9629:Syt17	UTSW	7	118,007,379 (GRCm39)	missense	probably damaging	0.96
Z1177:Syt17	UTSW	7	118,033,446 (GRCm39)	missense	possibly damaging	0.53

Posted On

2015-04-16