Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Stx18'

644247

Institutional Source

Beutler Lab

Gene Symbol

Stx18

Ensembl Gene

ENSMUSG00000029125

Gene Name

syntaxin 18

Synonyms

1810035L21Rik, 4933425D03Rik

MMRRC Submission

067859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38196086-38295109 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38285450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 274 (L274*)

Ref Sequence

ENSEMBL: ENSMUSP00000109761 (fasta)

Gene Model

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

AlphaFold

Q8VDS8

Predicted Effect

probably null
Transcript: ENSMUST00000031008
AA Change: L274*

SMART Domains

Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: L274*

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

probably null
Transcript: ENSMUST00000042146
AA Change: L248*

SMART Domains

Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: L248*

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

probably null
Transcript: ENSMUST00000114126
AA Change: L274*

SMART Domains

Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: L274*

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

probably benign
Transcript: ENSMUST00000146864

SMART Domains

Protein: ENSMUSP00000143909
Gene: ENSMUSG00000029125

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 null
Transcript: ENSMUST00000154929
AA Change: L220*

SMART Domains

Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: L220*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,461,978 (GRCm39)		probably null	Het
Ackr4	A	G	9: 103,976,660 (GRCm39)	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376 (GRCm39)	I596T	possibly damaging	Het
Aff3	G	A	1: 38,244,135 (GRCm39)	R879W	probably benign	Het
Apob	A	G	12: 8,061,135 (GRCm39)	R3206G	probably damaging	Het
Atg7	T	A	6: 114,663,057 (GRCm39)	D224E	possibly damaging	Het
Capn12	T	C	7: 28,582,626 (GRCm39)	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,233,848 (GRCm39)	V224G	probably damaging	Het
Ces4a	G	A	8: 105,874,714 (GRCm39)	V452I	probably damaging	Het
Cherp	G	A	8: 73,215,852 (GRCm39)	R834C		Het
Clptm1l	T	A	13: 73,760,547 (GRCm39)	I310N	probably damaging	Het
Cog3	A	T	14: 75,978,003 (GRCm39)	D230E	probably damaging	Het
Crb1	T	A	1: 139,165,005 (GRCm39)	I1101F	probably damaging	Het
Cts6	A	T	13: 61,343,282 (GRCm39)	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,174,906 (GRCm39)	C435*	probably null	Het
Defb13	A	G	8: 22,438,562 (GRCm39)	E40G	probably benign	Het
Dis3l	T	C	9: 64,219,112 (GRCm39)	D606G	possibly damaging	Het
Dop1b	T	C	16: 93,568,675 (GRCm39)	L1579P	probably damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gcn1	G	A	5: 115,747,921 (GRCm39)	G1776E	probably damaging	Het
Gls2	A	G	10: 128,037,154 (GRCm39)	T232A	probably benign	Het
Gprc6a	A	T	10: 51,503,355 (GRCm39)	Y169*	probably null	Het
Guca2b	T	C	4: 119,516,001 (GRCm39)	S18G	unknown	Het
Hars2	A	G	18: 36,922,288 (GRCm39)	D301G	possibly damaging	Het
Haus5	T	A	7: 30,358,984 (GRCm39)	Q226L	possibly damaging	Het
Hc	G	A	2: 34,902,910 (GRCm39)		probably null	Het
Hivep2	T	C	10: 14,004,011 (GRCm39)	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,899,543 (GRCm39)	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,498,661 (GRCm39)	R3L	probably benign	Het
Hspa8	T	G	9: 40,713,897 (GRCm39)	I130S	probably damaging	Het
Ier5l	C	A	2: 30,362,861 (GRCm39)	C388F	possibly damaging	Het
Ldc1	C	T	4: 130,109,156 (GRCm39)	V295M	possibly damaging	Het
Lmx1a	A	G	1: 167,517,372 (GRCm39)	N10S	probably benign	Het
Map2	T	C	1: 66,454,272 (GRCm39)	I1054T	probably benign	Het
Me1	C	T	9: 86,501,790 (GRCm39)	D268N	probably damaging	Het
Muc6	G	A	7: 141,226,525 (GRCm39)	P1501S	unknown	Het
Myo1d	T	C	11: 80,528,900 (GRCm39)	M641V	probably benign	Het
Nuggc	G	A	14: 65,878,731 (GRCm39)	R667K	probably benign	Het
Oprl1	T	A	2: 181,360,717 (GRCm39)	C231S	probably damaging	Het
Or11g26	T	C	14: 50,753,015 (GRCm39)	F118S	probably damaging	Het
Or13p10	A	C	4: 118,523,604 (GRCm39)	N297H	probably damaging	Het
Pard3b	C	A	1: 62,676,957 (GRCm39)	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,017,283 (GRCm39)	Y158C	probably damaging	Het
Prune2	T	G	19: 17,098,629 (GRCm39)	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,712,110 (GRCm39)	T158K	probably damaging	Het
Rbm42	T	A	7: 30,344,582 (GRCm39)	E227V	unknown	Het
Ripor3	T	C	2: 167,825,119 (GRCm39)	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,492,855 (GRCm39)	H3764L	possibly damaging	Het
Sbno2	T	C	10: 79,900,221 (GRCm39)	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,365,030 (GRCm39)	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,039,409 (GRCm39)	L73P	probably damaging	Het
Spag16	T	C	1: 69,934,407 (GRCm39)	I278T	probably benign	Het
Terb1	A	T	8: 105,211,003 (GRCm39)	N341K	probably damaging	Het
Timm29	A	G	9: 21,505,001 (GRCm39)	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,369,665 (GRCm39)	M370L	probably benign	Het
Tmtc3	T	A	10: 100,283,296 (GRCm39)	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,832 (GRCm39)	C699*	probably null	Het
Trav5d-4	G	A	14: 53,239,208 (GRCm39)	W13*	probably null	Het
Trdn	A	G	10: 33,320,074 (GRCm39)		probably null	Het
Tsg101	A	T	7: 46,558,808 (GRCm39)	Y68N	probably damaging	Het
Ttn	A	G	2: 76,664,062 (GRCm39)	V11649A	unknown	Het
Wnk2	A	T	13: 49,248,914 (GRCm39)	V379D	probably damaging	Het
Xpnpep1	A	G	19: 52,990,903 (GRCm39)		probably null	Het
Yme1l1	C	T	2: 23,054,597 (GRCm39)	Q139*	probably null	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
R7285:Stx18	UTSW	5	38,262,251 (GRCm39)	missense	possibly damaging	0.91
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
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'- ACTAGGCTATGCAGAGGACCTAC -3'
(R):5'- CTGATGGAAGCTAGGTCAGG -3'

Sequencing Primer
(F):5'- GCTATGCAGAGGACCTACCATGC -3'
(R):5'- AAGCTAGGTCAGGGTGCTC -3'

Posted On

2020-09-02