Mutagenetix > Incidental Mutation

Incidental Mutation 'R8151:Stx16'

632940

Institutional Source

Beutler Lab

Gene Symbol

Stx16

Ensembl Gene

ENSMUSG00000027522

Gene Name

syntaxin 16

Synonyms

5430410K23Rik, 6330500A18Rik, SYN16

MMRRC Submission

067577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173918101-173941564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173935284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 206 (M206K)

Ref Sequence

ENSEMBL: ENSMUSP00000085218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044638] [ENSMUST00000087908] [ENSMUST00000134876] [ENSMUST00000147038] [ENSMUST00000155000]

AlphaFold

Q8BVI5

Predicted Effect

probably benign
Transcript: ENSMUST00000044638
AA Change: M207K

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: M207K

Domain	Start	End	E-Value	Type
Blast:SynN	76	190	2e-20	BLAST
t_SNARE	227	294	9.13e-23	SMART
transmembrane domain	305	324	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087908
AA Change: M206K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: M206K

Domain	Start	End	E-Value	Type
Pfam:Syntaxin	74	174	2.1e-15	PFAM
t_SNARE	226	293	9.13e-23	SMART
transmembrane domain	304	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134876

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147038
AA Change: M153K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
AA Change: M153K

Domain	Start	End	E-Value	Type
Pfam:Syntaxin	21	121	3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155000

SMART Domains

Protein: ENSMUSP00000119952
Gene: ENSMUSG00000027522

Domain	Start	End	E-Value	Type
Pfam:Syntaxin	21	89	4.8e-13	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: M203K

Domain	Start	End	E-Value	Type
Blast:SynN	73	187	5e-21	BLAST
Pfam:SNARE	217	258	6.6e-18	PFAM

Meta Mutation Damage Score

0.1256

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and do not exhibit methylation abnormalities or develop a pseudohypoparathyroidism resistance phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,982,043 (GRCm39)	I1109T	possibly damaging	Het
Aipl1	C	A	11: 71,927,584 (GRCm39)	D44Y	probably benign	Het
Aldh8a1	C	T	10: 21,271,465 (GRCm39)	T397M	probably damaging	Het
Btbd16	T	C	7: 130,398,825 (GRCm39)	S278P	probably damaging	Het
Ccdc110	G	A	8: 46,395,830 (GRCm39)	E574K	probably damaging	Het
Cd19	T	A	7: 126,013,478 (GRCm39)	K104*	probably null	Het
Cenpe	A	G	3: 134,952,783 (GRCm39)	E1491G	probably benign	Het
Col12a1	A	T	9: 79,537,831 (GRCm39)	S2546T	possibly damaging	Het
Col18a1	T	C	10: 76,948,418 (GRCm39)	T365A	unknown	Het
Ctif	G	T	18: 75,653,176 (GRCm39)	D360E	probably benign	Het
Fat4	G	A	3: 38,946,203 (GRCm39)	E1699K	probably damaging	Het
Fbxo39	G	A	11: 72,208,526 (GRCm39)	V293M	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,766 (GRCm39)	I1351T	possibly damaging	Het
Fhip1a	A	T	3: 85,595,847 (GRCm39)	I346N	probably damaging	Het
Havcr2	A	G	11: 46,366,722 (GRCm39)	K221E	possibly damaging	Het
Hdac5	T	C	11: 102,097,294 (GRCm39)	T209A	probably benign	Het
Herc1	A	G	9: 66,341,073 (GRCm39)	Q1730R	probably damaging	Het
Ifi202b	T	C	1: 173,804,923 (GRCm39)	T10A	probably benign	Het
Il18rap	T	C	1: 40,564,428 (GRCm39)	S153P	probably benign	Het
Klk1b21	C	T	7: 43,753,787 (GRCm39)	R24*	probably null	Het
Kras	ACTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTC	6: 145,166,360 (GRCm39)		probably benign	Het
Ldlrad4	A	G	18: 68,383,643 (GRCm39)	E113G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Macf1	T	C	4: 123,291,206 (GRCm39)	E3895G	possibly damaging	Het
Mug1	T	C	6: 121,818,117 (GRCm39)	S143P	probably benign	Het
Nudcd2	A	T	11: 40,624,529 (GRCm39)		probably benign	Het
Nup85	A	G	11: 115,468,759 (GRCm39)	T201A	probably benign	Het
Odad2	A	G	18: 7,127,358 (GRCm39)	F952L	probably damaging	Het
Plppr2	A	G	9: 21,852,105 (GRCm39)	E64G	probably damaging	Het
Plvap	A	G	8: 71,960,625 (GRCm39)	S264P	probably benign	Het
Polm	T	C	11: 5,787,906 (GRCm39)		probably benign	Het
Polr2d	T	A	18: 31,928,365 (GRCm39)	H93Q	probably damaging	Het
Ptprt	T	C	2: 162,120,005 (GRCm39)	E154G	probably damaging	Het
Rasal2	C	A	1: 157,071,154 (GRCm39)	G67C	probably damaging	Het
Sdk2	A	G	11: 113,763,683 (GRCm39)	V329A	possibly damaging	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Spef2	A	G	15: 9,601,598 (GRCm39)	S1555P	unknown	Het
Srgap3	A	C	6: 112,793,628 (GRCm39)	L116R	probably damaging	Het
St6galnac3	C	T	3: 153,117,217 (GRCm39)	V169M	probably damaging	Het
Txnip	A	G	3: 96,466,929 (GRCm39)	D201G	possibly damaging	Het
Ubr4	T	C	4: 139,130,112 (GRCm39)	V718A	probably damaging	Het
Vav3	A	C	3: 109,416,164 (GRCm39)	D261A	probably benign	Het
Vcam1	A	C	3: 115,918,128 (GRCm39)	L278V	possibly damaging	Het
Vta1	C	A	10: 14,543,697 (GRCm39)	A226S	probably damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp777	G	A	6: 48,006,075 (GRCm39)	Q440*	probably null	Het

Other mutations in Stx16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Stx16	APN	2	173,934,202 (GRCm39)	missense	probably damaging	1.00
IGL01626:Stx16	APN	2	173,935,813 (GRCm39)	missense	probably damaging	1.00
IGL03052:Stx16	UTSW	2	173,934,231 (GRCm39)	missense	probably benign	0.01
R0257:Stx16	UTSW	2	173,938,754 (GRCm39)	missense	probably benign	0.39
R4929:Stx16	UTSW	2	173,938,721 (GRCm39)	missense	possibly damaging	0.94
R5728:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R5729:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R5746:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R5772:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R5774:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R5776:Stx16	UTSW	2	173,935,292 (GRCm39)	missense	probably damaging	0.98
R6147:Stx16	UTSW	2	173,932,480 (GRCm39)	missense	probably damaging	1.00
R6837:Stx16	UTSW	2	173,935,795 (GRCm39)	missense	probably benign	0.09
R8675:Stx16	UTSW	2	173,934,255 (GRCm39)	missense	probably benign	0.04
R9468:Stx16	UTSW	2	173,933,327 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGACTGTTTAGGGGCCTCC -3'
(R):5'- ACATCTGCAGTCACACTGGG -3'

Sequencing Primer
(F):5'- GGCCTCCCCTTGCTATTGGG -3'
(R):5'- TAGGCCTCTGTGACGACTAG -3'

Posted On

2020-06-30