Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Stx18'

570565

Institutional Source

Beutler Lab

Gene Symbol

Stx18

Ensembl Gene

ENSMUSG00000029125

Gene Name

syntaxin 18

Synonyms

1810035L21Rik, 4933425D03Rik

MMRRC Submission

045437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38196086-38295109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38196755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 27 (V27E)

Ref Sequence

ENSEMBL: ENSMUSP00000109761 (fasta)

Gene Model

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

AlphaFold

Q8VDS8

Predicted Effect

probably benign
Transcript: ENSMUST00000031008
AA Change: V27E

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: V27E

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: ENSMUST00000042146
AA Change: V27E

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: V27E

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 benign
Transcript: ENSMUST00000114126
AA Change: V27E

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

SMART Domains

Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: V27E

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: ENSMUST00000154929

SMART Domains

Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125

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: ENSMUST00000202412

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	probably damaging	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
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'- TCTATGCTCACAGTTCCCAGG -3'
(R):5'- TGTCTTCACCGAGAGCTAAAGAG -3'

Sequencing Primer
(F):5'- TCACAGTTCCCAGGCGGAG -3'
(R):5'- GCTAAAGAGATAGGCCCAGTTTG -3'

Posted On

2019-09-13