Mutagenetix > Incidental Mutation

Incidental Mutation 'R1977:Stx17'

221819

Institutional Source

Beutler Lab

Gene Symbol

Stx17

Ensembl Gene

ENSMUSG00000061455

Gene Name

syntaxin 17

Synonyms

9030425C21Rik, 4833418L03Rik, 6330411F21Rik

MMRRC Submission

039990-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1977 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48124915-48186507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48181553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 241 (V241M)

Ref Sequence

ENSEMBL: ENSMUSP00000103348 (fasta)

Gene Model

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

AlphaFold

Q9D0I4

Predicted Effect

probably benign
Transcript: ENSMUST00000064765
AA Change: V241M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068087
Gene: ENSMUSG00000061455
AA Change: V241M

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: ENSMUST00000107720
AA Change: V241M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103348
Gene: ENSMUSG00000061455
AA Change: V241M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	G	T	8: 123,508,272 (GRCm39)	C256F	probably damaging	Het
Adgra2	T	A	8: 27,605,789 (GRCm39)	V647D	possibly damaging	Het
AI593442	A	T	9: 52,589,492 (GRCm39)	S28R	probably damaging	Het
Akr1c21	G	C	13: 4,624,211 (GRCm39)	G22R	probably damaging	Het
Ampd3	T	C	7: 110,402,369 (GRCm39)	W458R	probably damaging	Het
Arhgap23	G	T	11: 97,342,273 (GRCm39)	R185L	possibly damaging	Het
Arhgap45	A	T	10: 79,856,652 (GRCm39)	I67F	probably damaging	Het
Asah1	A	G	8: 41,796,554 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,160,019 (GRCm39)	Y56H	probably damaging	Het
Carf	A	T	1: 60,185,295 (GRCm39)	I447F	probably damaging	Het
Crmp1	A	G	5: 37,433,627 (GRCm39)	N162S	probably damaging	Het
Cyp2a5	A	G	7: 26,535,347 (GRCm39)	E103G	probably benign	Het
Cyp2c40	T	C	19: 39,766,485 (GRCm39)	D370G	probably damaging	Het
Dhrs2	T	A	14: 55,472,112 (GRCm39)	M1K	probably null	Het
Dnah17	T	C	11: 118,003,417 (GRCm39)	E810G	possibly damaging	Het
E2f5	T	A	3: 14,652,416 (GRCm39)	I84N	probably damaging	Het
Eif2ak4	A	T	2: 118,292,238 (GRCm39)	K1185*	probably null	Het
Eif4ebp1	T	A	8: 27,765,129 (GRCm39)	M115K	probably damaging	Het
Evi5	A	T	5: 107,947,005 (GRCm39)	L505*	probably null	Het
Fbxw25	T	A	9: 109,481,924 (GRCm39)	Y254F	possibly damaging	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gps1	A	G	11: 120,676,652 (GRCm39)	T124A	probably damaging	Het
Hopx	T	C	5: 77,265,463 (GRCm39)		probably benign	Het
Hoxd3	A	G	2: 74,574,620 (GRCm39)	S89G	possibly damaging	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Izumo4	A	G	10: 80,538,955 (GRCm39)	Y106C	probably damaging	Het
Lama2	A	T	10: 26,866,796 (GRCm39)		probably null	Het
Lcorl	A	C	5: 45,932,762 (GRCm39)	S123R	probably null	Het
Lgr4	A	T	2: 109,842,273 (GRCm39)	I729F	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Matn3	T	A	12: 9,011,110 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,161,822 (GRCm39)	S912T	probably benign	Het
Mgam	G	A	6: 40,641,814 (GRCm39)	V556I	probably benign	Het
Myom2	A	T	8: 15,135,263 (GRCm39)	I489F	possibly damaging	Het
Nfatc2	G	A	2: 168,346,379 (GRCm39)	T905I	possibly damaging	Het
Nme6	G	A	9: 109,664,409 (GRCm39)	R6Q	probably damaging	Het
Nr1h5	A	G	3: 102,855,133 (GRCm39)	S323P	probably damaging	Het
Nr4a3	C	A	4: 48,056,539 (GRCm39)	R364S	probably damaging	Het
Obox7	A	T	7: 14,398,323 (GRCm39)	D79V	probably damaging	Het
Or1ab2	G	A	8: 72,863,698 (GRCm39)	G96D	probably benign	Het
Or2a51	T	A	6: 43,178,914 (GRCm39)	V112D	possibly damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Parp8	T	A	13: 117,047,449 (GRCm39)	I208F	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Polk	T	C	13: 96,625,736 (GRCm39)	E436G	probably damaging	Het
Pramel7	A	G	2: 87,321,465 (GRCm39)	V190A	probably benign	Het
Rplp2	T	C	7: 141,028,694 (GRCm39)		probably benign	Het
Sec23ip	T	A	7: 128,367,997 (GRCm39)	S670T	probably damaging	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sh2d2a	C	T	3: 87,759,123 (GRCm39)	Q242*	probably null	Het
Sh3pxd2b	A	C	11: 32,372,138 (GRCm39)	N435T	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Taok3	A	T	5: 117,403,989 (GRCm39)	K721N	probably damaging	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Tmem87a	G	A	2: 120,204,985 (GRCm39)	A377V	probably benign	Het
Topaz1	C	T	9: 122,576,427 (GRCm39)	T6M	unknown	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Vmn2r125	A	G	4: 156,707,162 (GRCm39)		probably null	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Wdr59	A	T	8: 112,185,270 (GRCm39)	C888S	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
IGL01975:Stx17	APN	4	48,180,670 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GCAGTACCTGTGGAATACATTCAC -3'
(R):5'- GTCACTTTGGCTAGGGAGATC -3'

Sequencing Primer
(F):5'- CCCTCCAAGAATAATCTCTGAGG -3'
(R):5'- CACTTTGGCTAGGGAGATCTGGAC -3'

Posted On

2014-08-25