Mutagenetix > Incidental Mutation

Incidental Mutation 'R7060:Stx18'

548176

Institutional Source

Beutler Lab

Gene Symbol

Stx18

Ensembl Gene

ENSMUSG00000029125

Gene Name

syntaxin 18

Synonyms

1810035L21Rik, 4933425D03Rik

MMRRC Submission

045157-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38196086-38295109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38278599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 165 (D165N)

Ref Sequence

ENSEMBL: ENSMUSP00000118218 (fasta)

Gene Model

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

AlphaFold

Q8VDS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031008
AA Change: D219N

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031008
Gene: ENSMUSG00000029125
AA Change: D219N

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: D193N

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038205
Gene: ENSMUSG00000029125
AA Change: D193N

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: D219N

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109761
Gene: ENSMUSG00000029125
AA Change: D219N

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: D138N

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143909
Gene: ENSMUSG00000029125
AA Change: D138N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154929
AA Change: D165N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118218
Gene: ENSMUSG00000029125
AA Change: D165N

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

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,425 (GRCm39)	T535S	probably benign	Het
Adamts19	A	T	18: 58,970,712 (GRCm39)	R99*	probably null	Het
Alg6	C	T	4: 99,650,198 (GRCm39)	L473F	possibly damaging	Het
Ankar	A	T	1: 72,695,272 (GRCm39)	N893K	probably benign	Het
Ankrd54	G	A	15: 78,939,739 (GRCm39)	A183V	possibly damaging	Het
Anpep	G	T	7: 79,491,542 (GRCm39)	T153K	probably benign	Het
Arap1	A	G	7: 101,058,564 (GRCm39)		probably null	Het
Aspg	A	T	12: 112,089,387 (GRCm39)	T392S	probably benign	Het
B230307C23Rik	A	C	16: 97,811,331 (GRCm39)	R68S	probably benign	Het
Bdp1	G	C	13: 100,196,002 (GRCm39)	N1253K	probably damaging	Het
Ccrl2	G	A	9: 110,884,682 (GRCm39)	S272F	probably damaging	Het
Cdon	T	C	9: 35,398,205 (GRCm39)	L974P	probably damaging	Het
Celsr1	C	A	15: 85,916,856 (GRCm39)	E372D	probably benign	Het
Cers1	A	T	8: 70,768,555 (GRCm39)	M16L	possibly damaging	Het
Col2a1	G	T	15: 97,874,022 (GRCm39)	Q1387K	unknown	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dppa2	T	A	16: 48,136,076 (GRCm39)	S143T	probably benign	Het
Dpy19l1	A	T	9: 24,334,419 (GRCm39)	M583K	possibly damaging	Het
Eno3	A	T	11: 70,552,245 (GRCm39)	D299V	possibly damaging	Het
Epha8	C	T	4: 136,658,469 (GRCm39)	V969M	probably damaging	Het
Fcgbp	A	T	7: 27,791,358 (GRCm39)	H873L	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fntb	A	C	12: 76,934,649 (GRCm39)	N173T	possibly damaging	Het
Gins2	T	A	8: 121,308,880 (GRCm39)	M125L	probably benign	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Herpud1	C	A	8: 95,117,391 (GRCm39)	H116N	probably benign	Het
Hoga1	C	A	19: 42,048,685 (GRCm39)	Y134*	probably null	Het
Il10ra	A	G	9: 45,167,522 (GRCm39)	I343T	probably benign	Het
Inava	T	C	1: 136,147,935 (GRCm39)	K339R	possibly damaging	Het
Inpp5j	C	T	11: 3,450,133 (GRCm39)		probably null	Het
Itpkb	T	C	1: 180,160,695 (GRCm39)	S274P	probably damaging	Het
Kalrn	C	T	16: 34,177,418 (GRCm39)	C249Y	probably damaging	Het
Klhl35	G	C	7: 99,117,665 (GRCm39)	A70P	possibly damaging	Het
Lhx1	A	G	11: 84,411,108 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,732,047 (GRCm39)	V88A	probably benign	Het
Macc1	T	G	12: 119,411,190 (GRCm39)	L653V	probably damaging	Het
Madd	T	C	2: 91,007,452 (GRCm39)	D220G	probably damaging	Het
Mllt10	T	A	2: 18,164,371 (GRCm39)	H300Q	possibly damaging	Het
Mlxipl	G	A	5: 135,161,169 (GRCm39)	A363T	possibly damaging	Het
Mus81	G	T	19: 5,537,821 (GRCm39)	D78E	probably benign	Het
Mxd1	A	T	6: 86,630,141 (GRCm39)	L26M	probably damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Nos1ap	A	G	1: 170,165,694 (GRCm39)	S190P	possibly damaging	Het
Nwd1	A	C	8: 73,393,322 (GRCm39)	D195A	probably damaging	Het
Or12d13	G	T	17: 37,647,352 (GRCm39)	T257N	probably benign	Het
Or6k4	A	T	1: 173,964,376 (GRCm39)	D22V	probably benign	Het
Or8c14-ps1	G	A	9: 38,101,392 (GRCm39)	V124I	probably damaging	Het
Or8k24	T	A	2: 86,216,569 (GRCm39)	R64S	possibly damaging	Het
Otof	T	C	5: 30,545,700 (GRCm39)	D500G	possibly damaging	Het
Pcgf5	T	A	19: 36,420,339 (GRCm39)	Y190*	probably null	Het
Pdcd11	C	T	19: 47,099,418 (GRCm39)	T839I	probably benign	Het
Ppard	G	C	17: 28,517,886 (GRCm39)	S318T	probably benign	Het
Ppfia2	A	G	10: 106,597,970 (GRCm39)	K178E	probably damaging	Het
Ppm1n	G	T	7: 19,013,187 (GRCm39)	R255S	probably damaging	Het
Ppp1r21	A	G	17: 88,887,972 (GRCm39)	Y693C	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,279 (GRCm39)	V169E	possibly damaging	Het
Prc1	A	T	7: 79,954,121 (GRCm39)	T53S	probably benign	Het
Pwp2	A	C	10: 78,009,084 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Ring1	A	G	17: 34,242,364 (GRCm39)	C48R	probably damaging	Het
Rpap1	T	C	2: 119,604,043 (GRCm39)	D496G	probably damaging	Het
Rspo4	C	A	2: 151,714,998 (GRCm39)	Q212K	unknown	Het
Samd9l	T	A	6: 3,372,716 (GRCm39)	D1515V	probably damaging	Het
Serinc3	T	C	2: 163,478,879 (GRCm39)	T83A	probably benign	Het
Setd5	A	C	6: 113,094,343 (GRCm39)	D420A	probably damaging	Het
Sidt2	T	C	9: 45,864,544 (GRCm39)	T62A	possibly damaging	Het
Smarcal1	T	C	1: 72,652,101 (GRCm39)	V621A	probably damaging	Het
Srcin1	A	G	11: 97,464,711 (GRCm39)	L12P	probably damaging	Het
Sumf2	A	G	5: 129,883,341 (GRCm39)	K139E	possibly damaging	Het
Tdo2	A	T	3: 81,876,866 (GRCm39)	I102N	probably damaging	Het
Tdp1	T	A	12: 99,877,947 (GRCm39)	S410T	probably benign	Het
Tmem94	A	T	11: 115,683,764 (GRCm39)	I726F	probably damaging	Het
Ttc21a	A	G	9: 119,795,742 (GRCm39)	E1192G	probably damaging	Het
Ttc8	T	C	12: 98,909,726 (GRCm39)	I52T	probably benign	Het
Vmn2r99	A	T	17: 19,614,826 (GRCm39)	R849*	probably null	Het
Wwc1	T	C	11: 35,806,003 (GRCm39)	K77E	possibly damaging	Het
Xirp2	A	T	2: 67,345,952 (GRCm39)	E2731V	probably damaging	Het
Zfp1006	A	C	8: 129,945,613 (GRCm39)	I404R	probably benign	Het
Zfp423	G	A	8: 88,509,507 (GRCm39)	T258I	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
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'- TCCAGTATGGACCACACTGC -3'
(R):5'- TGCTACCGTGAATTGACATCATG -3'

Sequencing Primer
(F):5'- GTATGGACCACACTGCAGAATTC -3'
(R):5'- CCGTGAATTGACATCATGAAAAGC -3'

Posted On

2019-05-13