Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Stx18'

565930

Institutional Source

Beutler Lab

Gene Symbol

Stx18

Ensembl Gene

ENSMUSG00000029125

Gene Name

syntaxin 18

Synonyms

1810035L21Rik, 4933425D03Rik

MMRRC Submission

045393-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38196086-38295109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38262251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 89 (T89I)

Ref Sequence

ENSEMBL: ENSMUSP00000109761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031008] [ENSMUST00000042146] [ENSMUST00000114126] [ENSMUST00000146864] [ENSMUST00000154929] [ENSMUST00000202412]

AlphaFold

Q8VDS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031008
AA Change: T89I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-18_N	3	96	4.1e-26	PFAM
low complexity region	196	209	N/A	INTRINSIC
coiled coil region	229	259	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042146
AA Change: T89I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-18_N	3	96	4.1e-26	PFAM
low complexity region	170	183	N/A	INTRINSIC
coiled coil region	203	233	N/A	INTRINSIC
transmembrane domain	284	306	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114126
AA Change: T89I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: T89I

Domain	Start	End	E-Value	Type
Pfam:Syntaxin-18_N	3	96	3.4e-24	PFAM
low complexity region	196	209	N/A	INTRINSIC
coiled coil region	229	259	N/A	INTRINSIC
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146864
AA Change: T8I

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143909
Gene: ENSMUSG00000029125
AA Change: T8I

Domain	Start	End	E-Value	Type
low complexity region	115	128	N/A	INTRINSIC
coiled coil region	148	178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154929
AA Change: T35I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: T35I

Domain	Start	End	E-Value	Type
low complexity region	142	155	N/A	INTRINSIC
coiled coil region	175	205	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202412
AA Change: T35I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,388,314 (GRCm39)	C185*	probably null	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Adam1b	T	G	5: 121,639,056 (GRCm39)	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920 (GRCm39)	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,439,258 (GRCm39)	Q135L	probably benign	Het
Clca3b	T	C	3: 144,543,519 (GRCm39)	I437V	probably benign	Het
Cldn15	A	T	5: 137,001,327 (GRCm39)	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,313,848 (GRCm39)	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,662,944 (GRCm39)	C353*	probably null	Het
Dhcr24	T	A	4: 106,428,716 (GRCm39)		probably null	Het
Dock1	T	G	7: 134,346,737 (GRCm39)	L223R	probably benign	Het
Ece1	T	A	4: 137,641,074 (GRCm39)		probably null	Het
Efcab5	A	G	11: 77,028,170 (GRCm39)	V387A	probably benign	Het
Efcab5	A	G	11: 77,029,041 (GRCm39)	F97L	possibly damaging	Het
Eme2	A	T	17: 25,113,543 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,536,059 (GRCm39)	T447I	probably benign	Het
Fam222b	T	C	11: 78,034,007 (GRCm39)	S17P	probably benign	Het
Fbln1	A	G	15: 85,121,829 (GRCm39)	I317V	probably benign	Het
Fn1	T	C	1: 71,676,498 (GRCm39)	K578E	probably damaging	Het
Fscb	A	T	12: 64,518,323 (GRCm39)	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200 (GRCm39)		probably null	Het
Hexa	T	A	9: 59,471,222 (GRCm39)	I492K	probably benign	Het
Inpp5e	G	A	2: 26,287,870 (GRCm39)	A642V	probably benign	Het
Ints11	C	T	4: 155,970,568 (GRCm39)	A241V	probably damaging	Het
Irs2	A	G	8: 11,056,797 (GRCm39)	L545P	probably damaging	Het
Katnal2	G	A	18: 77,081,271 (GRCm39)	A409V	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,064,877 (GRCm39)	K138R	probably damaging	Het
Lcor	A	G	19: 41,572,754 (GRCm39)	K503R	possibly damaging	Het
Lpp	G	A	16: 24,796,029 (GRCm39)	A558T	probably damaging	Het
Lypla1	T	C	1: 4,911,321 (GRCm39)	I202T	probably benign	Het
Magi3	G	A	3: 103,941,430 (GRCm39)	P842S	probably benign	Het
Meioc	G	A	11: 102,557,168 (GRCm39)	V25M	probably benign	Het
Mthfr	C	T	4: 148,138,056 (GRCm39)	T557I	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Or2t44	T	A	11: 58,677,310 (GRCm39)	Y83*	probably null	Het
Or5d20-ps1	A	T	2: 87,932,049 (GRCm39)	I94N	probably damaging	Het
Osbpl10	A	T	9: 115,052,771 (GRCm39)	I440F	probably damaging	Het
Otx2	G	A	14: 48,898,922 (GRCm39)	A36V	probably benign	Het
Parg	A	G	14: 31,932,465 (GRCm39)	Y435C	probably damaging	Het
Parvb	A	T	15: 84,166,985 (GRCm39)	D100V	possibly damaging	Het
Prss27	A	G	17: 24,264,665 (GRCm39)	H276R	probably benign	Het
Prune1	T	A	3: 95,162,357 (GRCm39)	S439C	probably damaging	Het
Pudp	C	G	18: 50,701,287 (GRCm39)	E149Q	possibly damaging	Het
Qng1	T	C	13: 58,532,199 (GRCm39)	Y119C	probably damaging	Het
Sin3a	C	A	9: 57,034,583 (GRCm39)	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,787,471 (GRCm39)	D927G	probably benign	Het
Ticrr	T	C	7: 79,310,610 (GRCm39)	S175P	possibly damaging	Het
Tinag	T	C	9: 76,952,943 (GRCm39)	T14A	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Trpm1	G	T	7: 63,859,729 (GRCm39)	E396*	probably null	Het
Txndc11	A	G	16: 10,902,163 (GRCm39)	Y684H	probably damaging	Het
Usp47	G	A	7: 111,692,315 (GRCm39)	E926K	probably benign	Het
Vmn1r233	A	G	17: 21,214,221 (GRCm39)	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,258,049 (GRCm39)		probably null	Het
Zfp12	A	G	5: 143,230,444 (GRCm39)	K289R	probably damaging	Het
Zfp950	T	A	19: 61,107,550 (GRCm39)	H511L	probably benign	Het

Other mutations in Stx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Stx18	APN	5	38,263,955 (GRCm39)	missense	possibly damaging	0.86
IGL02123:Stx18	APN	5	38,285,447 (GRCm39)	missense	probably damaging	1.00
IGL03107:Stx18	APN	5	38,293,655 (GRCm39)	missense	probably damaging	1.00
IGL03187:Stx18	APN	5	38,284,327 (GRCm39)	missense	possibly damaging	0.94
R0025:Stx18	UTSW	5	38,249,908 (GRCm39)	missense	probably damaging	1.00
R0025:Stx18	UTSW	5	38,249,908 (GRCm39)	missense	probably damaging	1.00
R0414:Stx18	UTSW	5	38,262,349 (GRCm39)	splice site	probably benign
R0713:Stx18	UTSW	5	38,264,015 (GRCm39)	splice site	probably null
R1147:Stx18	UTSW	5	38,284,267 (GRCm39)	splice site	probably benign
R1552:Stx18	UTSW	5	38,262,335 (GRCm39)	missense	probably damaging	0.99
R1725:Stx18	UTSW	5	38,292,599 (GRCm39)	missense	probably damaging	1.00
R1929:Stx18	UTSW	5	38,285,383 (GRCm39)	splice site	probably null
R2020:Stx18	UTSW	5	38,292,588 (GRCm39)	missense	probably damaging	1.00
R4678:Stx18	UTSW	5	38,293,712 (GRCm39)	unclassified	probably benign
R5247:Stx18	UTSW	5	38,263,977 (GRCm39)	missense	probably damaging	1.00
R6056:Stx18	UTSW	5	38,263,908 (GRCm39)	missense	probably damaging	0.96
R6330:Stx18	UTSW	5	38,284,261 (GRCm39)	splice site	probably null
R6860:Stx18	UTSW	5	38,262,235 (GRCm39)	missense	possibly damaging	0.62
R7060:Stx18	UTSW	5	38,278,599 (GRCm39)	missense	possibly damaging	0.87
R7351:Stx18	UTSW	5	38,196,755 (GRCm39)	missense	probably benign	0.00
R8310:Stx18	UTSW	5	38,285,383 (GRCm39)	splice site	probably null
R8329:Stx18	UTSW	5	38,285,450 (GRCm39)	nonsense	probably null
R9585:Stx18	UTSW	5	38,249,916 (GRCm39)	missense	possibly damaging	0.79
R9784:Stx18	UTSW	5	38,196,635 (GRCm39)	start gained	probably benign
X0026:Stx18	UTSW	5	38,262,310 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTTCCTAGCAAAGCTGTGC -3'
(R):5'- AAGGAATGCTACGTGGCTG -3'

Sequencing Primer
(F):5'- TCGAAGACTGTACCTCATGGC -3'
(R):5'- ATGCTACGTGGCTGCACAATG -3'

Posted On

2019-06-26