Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01975:Stx17'

182630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stx17

Ensembl Gene

ENSMUSG00000061455

Gene Name

syntaxin 17

Synonyms

9030425C21Rik, 4833418L03Rik, 6330411F21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01975

Quality Score

Status

Chromosome

Chromosomal Location

48124915-48186507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48180670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 172 (S172P)

Ref Sequence

ENSEMBL: ENSMUSP00000103349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064765] [ENSMUST00000107720] [ENSMUST00000107721]

AlphaFold

Q9D0I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000064765
AA Change: S194P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: S194P

Domain	Start	End	E-Value	Type
low complexity region	74	88	N/A	INTRINSIC
t_SNARE	156	223	9.65e-13	SMART
transmembrane domain	228	250	N/A	INTRINSIC
transmembrane domain	255	274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107720
AA Change: S194P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: S194P

Domain	Start	End	E-Value	Type
low complexity region	74	88	N/A	INTRINSIC
t_SNARE	156	223	9.65e-13	SMART
transmembrane domain	228	250	N/A	INTRINSIC
transmembrane domain	255	274	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107721
AA Change: S172P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455
AA Change: S172P

Domain	Start	End	E-Value	Type
low complexity region	52	66	N/A	INTRINSIC
t_SNARE	134	201	9.65e-13	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,217,396 (GRCm39)	C133Y	probably damaging	Het
Akap3	G	T	6: 126,850,963 (GRCm39)	S827I	probably damaging	Het
Arhgap20	C	T	9: 51,761,097 (GRCm39)	Q947*	probably null	Het
Csf2rb2	A	G	15: 78,173,086 (GRCm39)	I258T	probably benign	Het
Egln2	T	C	7: 26,859,745 (GRCm39)	I323V	possibly damaging	Het
Erlin1	C	A	19: 44,025,370 (GRCm39)	G348V	probably damaging	Het
Fbxo38	C	T	18: 62,648,484 (GRCm39)	A685T	probably damaging	Het
Gm10272	G	A	10: 77,542,608 (GRCm39)	C50Y	probably damaging	Het
Gm11559	G	T	11: 99,755,682 (GRCm39)	Q110H	unknown	Het
Gpr75	T	C	11: 30,841,835 (GRCm39)	S247P	probably benign	Het
Grid1	A	T	14: 35,045,383 (GRCm39)	M409L	probably benign	Het
Herc3	A	C	6: 58,893,561 (GRCm39)	D941A	possibly damaging	Het
Ilf3	T	A	9: 21,303,675 (GRCm39)	S166T	probably benign	Het
Kcnu1	A	C	8: 26,424,525 (GRCm39)	E273D	probably benign	Het
Kdm8	A	G	7: 125,051,529 (GRCm39)	S41G	probably benign	Het
Ldlr	G	A	9: 21,644,993 (GRCm39)	V174I	probably benign	Het
Lpar5	T	C	6: 125,058,750 (GRCm39)	L157P	probably damaging	Het
Mcrs1	A	G	15: 99,141,559 (GRCm39)		probably null	Het
Ndst3	T	A	3: 123,395,163 (GRCm39)	Y489F	possibly damaging	Het
Or6c69c	A	G	10: 129,911,139 (GRCm39)	I287V	probably damaging	Het
Palmd	A	T	3: 116,717,283 (GRCm39)	S405T	probably benign	Het
Ptger1	T	C	8: 84,396,149 (GRCm39)		probably benign	Het
Rbp3	A	T	14: 33,680,602 (GRCm39)	K1068M	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf20	T	A	4: 49,654,473 (GRCm39)	D843E	probably benign	Het
Rxfp1	A	G	3: 79,567,385 (GRCm39)	S322P	possibly damaging	Het
Slc22a8	T	A	19: 8,582,775 (GRCm39)	I152N	probably damaging	Het
Slc6a21	T	A	7: 44,937,275 (GRCm39)	D268E	probably benign	Het
Sstr1	A	G	12: 58,260,412 (GRCm39)	N345S	probably benign	Het
Syne1	A	G	10: 5,018,908 (GRCm39)		probably benign	Het
Tpte	A	G	8: 22,839,353 (GRCm39)	T467A	probably damaging	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trav13-2	A	T	14: 53,872,823 (GRCm39)	T100S	possibly damaging	Het
Trip12	A	G	1: 84,792,534 (GRCm39)		probably benign	Het
Wdr36	A	G	18: 32,985,541 (GRCm39)	H486R	probably damaging	Het
Zswim5	T	C	4: 116,822,889 (GRCm39)	I453T	probably benign	Het

Other mutations in Stx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Stx17	APN	4	48,158,955 (GRCm39)	missense	possibly damaging	0.72
IGL01625:Stx17	APN	4	48,181,526 (GRCm39)	missense	probably damaging	1.00
R1977:Stx17	UTSW	4	48,181,553 (GRCm39)	missense	probably benign	0.00
R2069:Stx17	UTSW	4	48,158,870 (GRCm39)	missense	probably damaging	0.99
R4117:Stx17	UTSW	4	48,180,689 (GRCm39)	missense	probably damaging	1.00
R4201:Stx17	UTSW	4	48,158,870 (GRCm39)	missense	probably damaging	0.99
R4202:Stx17	UTSW	4	48,158,870 (GRCm39)	missense	probably damaging	0.99
R5265:Stx17	UTSW	4	48,183,470 (GRCm39)	utr 3 prime	probably benign
R5308:Stx17	UTSW	4	48,182,851 (GRCm39)	utr 3 prime	probably benign
R6414:Stx17	UTSW	4	48,158,809 (GRCm39)	critical splice acceptor site	probably null
R6499:Stx17	UTSW	4	48,183,478 (GRCm39)	critical splice donor site	probably null
R6969:Stx17	UTSW	4	48,140,462 (GRCm39)	missense	probably damaging	1.00
R7062:Stx17	UTSW	4	48,140,442 (GRCm39)	missense	probably benign	0.07
R7482:Stx17	UTSW	4	48,181,722 (GRCm39)	missense	possibly damaging	0.82
R8472:Stx17	UTSW	4	48,166,972 (GRCm39)	missense	probably benign	0.42
R8865:Stx17	UTSW	4	48,183,444 (GRCm39)	missense	unknown
R9130:Stx17	UTSW	4	48,159,071 (GRCm39)	unclassified	probably benign
R9563:Stx17	UTSW	4	48,180,739 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07