Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Stx18'

223806

Institutional Source

Beutler Lab

Gene Symbol

Stx18

Ensembl Gene

ENSMUSG00000029125

Gene Name

syntaxin 18

Synonyms

1810035L21Rik, 4933425D03Rik

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38196086-38295109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38292588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 230 (H230R)

Ref Sequence

ENSEMBL: ENSMUSP00000118218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031008] [ENSMUST00000031009] [ENSMUST00000042146] [ENSMUST00000114126] [ENSMUST00000154929] [ENSMUST00000201363] [ENSMUST00000201415]

AlphaFold

Q8VDS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031008
AA Change: H284R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: H284R

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 benign
Transcript: ENSMUST00000031009

SMART Domains

Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	180	1.2e-88	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042146
AA Change: H258R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: H258R

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 damaging
Transcript: ENSMUST00000114126
AA Change: H284R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: H284R

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

noncoding transcript
Transcript: ENSMUST00000141286

Predicted Effect

probably damaging
Transcript: ENSMUST00000154929
AA Change: H230R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: H230R

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 benign
Transcript: ENSMUST00000201363

SMART Domains

Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	180	1.2e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202512

Predicted Effect

probably benign
Transcript: ENSMUST00000201415

SMART Domains

Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	47	7.5e-19	PFAM
Pfam:Calcyon	43	141	1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202129

Meta Mutation Damage Score

0.1287

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,796,482 (GRCm39)		noncoding transcript	Het
Adam17	G	A	12: 21,399,876 (GRCm39)	R177C	probably damaging	Het
Ak7	G	A	12: 105,711,591 (GRCm39)		probably null	Het
Akap9	T	C	5: 4,011,967 (GRCm39)	V890A	probably damaging	Het
Alg6	A	G	4: 99,626,369 (GRCm39)	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,429,375 (GRCm39)	A43S	probably benign	Het
Anxa2	C	A	9: 69,391,099 (GRCm39)	D162E	probably damaging	Het
Arap1	A	G	7: 101,050,725 (GRCm39)	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,730,900 (GRCm39)	R121G	probably benign	Het
Arhgef4	A	T	1: 34,762,891 (GRCm39)	T716S	unknown	Het
Atg2a	T	C	19: 6,300,299 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,770 (GRCm39)	I480V	probably null	Het
Cdipt	T	C	7: 126,576,105 (GRCm39)	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 47,067,902 (GRCm39)		probably benign	Het
Chd7	G	A	4: 8,855,226 (GRCm39)	V2152I	probably benign	Het
Chd8	T	A	14: 52,452,698 (GRCm39)	S1274C	probably damaging	Het
Chuk	A	T	19: 44,095,782 (GRCm39)	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,309,577 (GRCm39)		probably benign	Het
Col20a1	G	A	2: 180,654,956 (GRCm39)		probably null	Het
Cped1	A	G	6: 22,143,963 (GRCm39)	I570V	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Ddx27	A	C	2: 166,875,691 (GRCm39)	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,333,158 (GRCm39)	F131L	probably damaging	Het
Dhx38	G	A	8: 110,283,501 (GRCm39)		probably benign	Het
Dido1	G	T	2: 180,301,378 (GRCm39)	N2175K	unknown	Het
Dmxl1	T	A	18: 50,022,625 (GRCm39)	Y1654*	probably null	Het
Dock7	T	A	4: 98,847,338 (GRCm39)	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925 (GRCm39)	I555V	probably benign	Het
Eif2ak2	T	C	17: 79,171,392 (GRCm39)	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,315,209 (GRCm39)	D46V	probably benign	Het
Fcgbpl1	T	C	7: 27,855,019 (GRCm39)	S1882P	probably benign	Het
Fech	C	T	18: 64,611,798 (GRCm39)	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,362 (GRCm39)	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,643 (GRCm39)	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,710,894 (GRCm39)	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,445,947 (GRCm39)	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,723,906 (GRCm39)	G468W	possibly damaging	Het
Ift172	A	T	5: 31,424,585 (GRCm39)	L201*	probably null	Het
Ift70a1	A	G	2: 75,811,279 (GRCm39)	V268A	probably benign	Het
Il1rl2	C	A	1: 40,404,374 (GRCm39)	S498R	probably damaging	Het
Ildr1	C	T	16: 36,545,903 (GRCm39)	R489W	probably damaging	Het
Itga10	G	A	3: 96,559,806 (GRCm39)	G487D	probably damaging	Het
Klk1b8	A	G	7: 43,448,640 (GRCm39)	N128D	probably benign	Het
Lgr6	G	A	1: 135,003,013 (GRCm39)	T79M	probably damaging	Het
Med6	T	C	12: 81,620,651 (GRCm39)	T232A	probably benign	Het
Mgat4e	A	G	1: 134,469,060 (GRCm39)	L328P	probably damaging	Het
Mttp	A	G	3: 137,824,163 (GRCm39)	Y138H	probably damaging	Het
Ngef	T	C	1: 87,473,690 (GRCm39)	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,830,287 (GRCm39)		probably null	Het
Nlgn2	G	T	11: 69,719,267 (GRCm39)	N194K	probably damaging	Het
Or1q1	G	A	2: 36,887,664 (GRCm39)	V281M	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Or5b98	G	A	19: 12,931,696 (GRCm39)	V248I	possibly damaging	Het
Or5m13b	A	G	2: 85,754,087 (GRCm39)	I158M	probably benign	Het
Or8c16	A	G	9: 38,130,728 (GRCm39)	Y203C	possibly damaging	Het
Pcca	T	A	14: 123,050,634 (GRCm39)	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,212,708 (GRCm39)	T671A	possibly damaging	Het
Prex2	G	A	1: 11,232,536 (GRCm39)	V868M	probably damaging	Het
Prkcq	G	A	2: 11,284,332 (GRCm39)	V501I	probably benign	Het
Prom1	T	A	5: 44,168,595 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 76,051,398 (GRCm39)	V41A	probably damaging	Het
Rab39	C	T	9: 53,597,698 (GRCm39)	G189E	possibly damaging	Het
Ret	T	C	6: 118,157,343 (GRCm39)	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,596,153 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,352,744 (GRCm39)	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,072,665 (GRCm39)	N336S	probably damaging	Het
Sag	G	A	1: 87,733,037 (GRCm39)	A2T	probably damaging	Het
Sco2	T	C	15: 89,256,063 (GRCm39)	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,408,864 (GRCm39)	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,781,377 (GRCm39)	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,727,339 (GRCm39)	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,586,013 (GRCm39)	L17P	probably damaging	Het
Sqor	T	C	2: 122,646,027 (GRCm39)		probably null	Het
Tas2r130	A	T	6: 131,607,732 (GRCm39)	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,570,658 (GRCm39)	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,060,765 (GRCm39)	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,074,305 (GRCm39)	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,270,384 (GRCm39)	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,655,773 (GRCm39)	S751P	probably damaging	Het
Ttn	A	G	2: 76,657,368 (GRCm39)		probably benign	Het
Ugdh	T	C	5: 65,574,268 (GRCm39)	Y425C	probably damaging	Het
Vmn1r115	G	A	7: 20,578,094 (GRCm39)	L273F	probably null	Het
Vmn2r109	A	T	17: 20,761,448 (GRCm39)	C636*	probably null	Het
Vmn2r59	A	C	7: 41,693,203 (GRCm39)	Y466D	probably damaging	Het
Zic5	C	T	14: 122,702,242 (GRCm39)	G163D	unknown	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
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
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'- ACTACTTGCTGGCTCTGAGAG -3'
(R):5'- CTGCAAGGTGGACCCTAAACAC -3'

Sequencing Primer
(F):5'- CACTAGCTGTACTTCAGATAATGGGG -3'
(R):5'- CTACACAGTATTCTTGGACAACCTC -3'

Posted On

2014-08-25