Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Stx17'

543364

Institutional Source

Beutler Lab

Gene Symbol

Stx17

Ensembl Gene

ENSMUSG00000061455

Gene Name

syntaxin 17

Synonyms

9030425C21Rik, 6330411F21Rik, 4833418L03Rik

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48124915-48186507 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48140462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 56 (I56F)

Ref Sequence

ENSEMBL: ENSMUSP00000117512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064765] [ENSMUST00000107720] [ENSMUST00000107721] [ENSMUST00000153502]

AlphaFold

Q9D0I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000064765
AA Change: I56F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: I56F

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: I56F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: I56F

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 benign
Transcript: ENSMUST00000107721

SMART Domains

Protein: ENSMUSP00000103349
Gene: ENSMUSG00000061455

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153502
AA Change: I56F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117512
Gene: ENSMUSG00000061455
AA Change: I56F

Domain	Start	End	E-Value	Type
coiled coil region	51	74	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,981,335 (GRCm38)	L800H	unknown	Het
Ap2b1	T	A	11: 83,389,726 (GRCm38)	D788E	probably damaging	Het
Arfgef1	T	C	1: 10,153,678 (GRCm38)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679 (GRCm38)	Q1465K	probably damaging	Het
Arhgap9	G	A	10: 127,326,643 (GRCm38)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,891,930 (GRCm38)	F19I	probably benign	Het
Bdp1	A	T	13: 100,074,531 (GRCm38)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,852,305 (GRCm38)	*427Q	probably null	Het
Chd9	A	C	8: 90,978,914 (GRCm38)	Q260P	probably benign	Het
Col16a1	A	T	4: 130,093,087 (GRCm38)		probably benign	Het
Csmd1	A	T	8: 17,216,789 (GRCm38)	N40K	possibly damaging	Het
Depdc5	T	G	5: 32,983,860 (GRCm38)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,358,238 (GRCm38)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,282,492 (GRCm38)	Q691R	probably damaging	Het
Dusp10	T	C	1: 184,068,888 (GRCm38)	L284P	probably damaging	Het
Efr3b	A	G	12: 3,968,624 (GRCm38)	V574A	probably benign	Het
Erc2	A	T	14: 27,898,596 (GRCm38)	I60F	probably damaging	Het
Exoc2	A	G	13: 30,911,178 (GRCm38)	V245A	probably benign	Het
Fasl	G	T	1: 161,781,675 (GRCm38)	F37L	probably damaging	Het
Fat3	G	A	9: 16,029,916 (GRCm38)	P1360S	probably benign	Het
Gm12666	A	G	4: 92,191,589 (GRCm38)	I54T	probably damaging	Het
Gpsm1	C	T	2: 26,340,543 (GRCm38)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,555,331 (GRCm38)	G124V	probably damaging	Het
Insm2	T	C	12: 55,600,178 (GRCm38)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,882,694 (GRCm38)	Y402H	possibly damaging	Het
Irx6	A	G	8: 92,677,330 (GRCm38)	E175G	probably damaging	Het
Kcnh8	C	T	17: 52,877,943 (GRCm38)	R418*	probably null	Het
Kif3c	G	A	12: 3,366,114 (GRCm38)	R45Q	probably benign	Het
Lpin1	A	G	12: 16,580,861 (GRCm38)	F12S	probably damaging	Het
Lrba	A	T	3: 86,619,590 (GRCm38)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,639,373 (GRCm38)	N200K	probably benign	Het
Lrrc7	G	A	3: 158,156,913 (GRCm38)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,415,690 (GRCm38)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,457,800 (GRCm38)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,257,536 (GRCm38)	A15P	probably damaging	Het
Myh2	T	C	11: 67,197,266 (GRCm38)	F1903L	probably benign	Het
Myom3	T	C	4: 135,801,060 (GRCm38)	L1072P	probably damaging	Het
Olfr1350	G	A	7: 6,570,321 (GRCm38)	C110Y	probably damaging	Het
Olfr1402	A	T	3: 97,410,802 (GRCm38)	Y126*	probably null	Het
Olfr680-ps1	T	C	7: 105,091,256 (GRCm38)	I128V	probably benign	Het
Olfr855	A	T	9: 19,584,590 (GRCm38)	T18S	possibly damaging	Het
Patl2	A	T	2: 122,128,929 (GRCm38)	V18D	possibly damaging	Het
Pkn1	T	C	8: 83,683,426 (GRCm38)	S395G	probably damaging	Het
Ptprm	A	G	17: 66,912,418 (GRCm38)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 185,236,012 (GRCm38)	L187P	probably damaging	Het
Ric1	A	T	19: 29,585,782 (GRCm38)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,985,737 (GRCm38)	K598R	probably benign	Het
Rnf40	A	G	7: 127,596,323 (GRCm38)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Sbsn	A	G	7: 30,753,191 (GRCm38)	T544A	probably benign	Het
Scaf1	C	A	7: 45,007,829 (GRCm38)		probably benign	Het
Sec24a	T	C	11: 51,700,816 (GRCm38)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,804,327 (GRCm38)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,308,826 (GRCm38)	V383F	probably damaging	Het
Slc5a2	A	G	7: 128,272,077 (GRCm38)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,464,808 (GRCm38)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,196,320 (GRCm38)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,865,125 (GRCm38)	A314T	probably damaging	Het
Sptb	A	T	12: 76,608,007 (GRCm38)	V1513E	probably damaging	Het
Tbc1d9	A	G	8: 83,241,542 (GRCm38)	Y424C	probably damaging	Het
Tgm3	A	G	2: 130,042,029 (GRCm38)	K536E	probably benign	Het
Tti2	A	G	8: 31,154,301 (GRCm38)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,374,048 (GRCm38)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm38)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,031,653 (GRCm38)		probably benign	Het
Zfp59	T	C	7: 27,853,497 (GRCm38)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,290,567 (GRCm38)	M144K	possibly damaging	Het
Zfp93	A	T	7: 24,275,381 (GRCm38)	K264*	probably null	Het

Other mutations in Stx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Stx17	APN	4	48,158,955 (GRCm38)	missense	possibly damaging	0.72
IGL01625:Stx17	APN	4	48,181,526 (GRCm38)	missense	probably damaging	1.00
IGL01975:Stx17	APN	4	48,180,670 (GRCm38)	missense	probably damaging	1.00
R1977:Stx17	UTSW	4	48,181,553 (GRCm38)	missense	probably benign	0.00
R2069:Stx17	UTSW	4	48,158,870 (GRCm38)	missense	probably damaging	0.99
R4117:Stx17	UTSW	4	48,180,689 (GRCm38)	missense	probably damaging	1.00
R4201:Stx17	UTSW	4	48,158,870 (GRCm38)	missense	probably damaging	0.99
R4202:Stx17	UTSW	4	48,158,870 (GRCm38)	missense	probably damaging	0.99
R5265:Stx17	UTSW	4	48,183,470 (GRCm38)	utr 3 prime	probably benign
R5308:Stx17	UTSW	4	48,182,851 (GRCm38)	utr 3 prime	probably benign
R6414:Stx17	UTSW	4	48,158,809 (GRCm38)	critical splice acceptor site	probably null
R6499:Stx17	UTSW	4	48,183,478 (GRCm38)	critical splice donor site	probably null
R7062:Stx17	UTSW	4	48,140,442 (GRCm38)	missense	probably benign	0.07
R7482:Stx17	UTSW	4	48,181,722 (GRCm38)	missense	possibly damaging	0.82
R8472:Stx17	UTSW	4	48,166,972 (GRCm38)	missense	probably benign	0.42
R8865:Stx17	UTSW	4	48,183,444 (GRCm38)	missense	unknown
R9130:Stx17	UTSW	4	48,159,071 (GRCm38)	unclassified	probably benign
R9563:Stx17	UTSW	4	48,180,739 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGCCTTCAGAAAGTTAACTGTC -3'
(R):5'- ACTGAATTCCTGCCACTGCC -3'

Sequencing Primer
(F):5'- GCCTTCAGAAAGTTAACTGTCATTAC -3'
(R):5'- CCTCAGGCAGCTGCAAAAGG -3'

Posted On

2018-11-28