Mutagenetix > Incidental Mutation

Incidental Mutation 'R5728:Stx16'

452590

Institutional Source

Beutler Lab

Gene Symbol

Stx16

Ensembl Gene

ENSMUSG00000027522

Gene Name

syntaxin 16

Synonyms

5430410K23Rik, 6330500A18Rik, SYN16

MMRRC Submission

043345-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173918101-173941564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173935292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 156 (G156R)

Ref Sequence

ENSEMBL: ENSMUSP00000120279 (fasta)

Gene Model

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

AlphaFold

Q8BVI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044638
AA Change: G210R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039543
Gene: ENSMUSG00000027522
AA Change: G210R

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

probably benign
Transcript: ENSMUST00000087908
AA Change: G209R

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085218
Gene: ENSMUSG00000027522
AA Change: G209R

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

probably damaging
Transcript: ENSMUST00000147038
AA Change: G156R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120279
Gene: ENSMUSG00000027522
AA Change: G156R

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

unknown
Transcript: ENSMUST00000156054
AA Change: G206R

SMART Domains

Protein: ENSMUSP00000116618
Gene: ENSMUSG00000027522
AA Change: G206R

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

0.2687

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	T	A	2: 103,953,213 (GRCm39)	M13K	possibly damaging	Het
Abca13	T	A	11: 9,520,576 (GRCm39)	V4493D	probably damaging	Het
Ank1	A	G	8: 23,612,783 (GRCm39)		probably null	Het
B4galnt4	A	G	7: 140,650,488 (GRCm39)	D785G	probably benign	Het
Chtop	C	T	3: 90,407,399 (GRCm39)	G187D	probably damaging	Het
Cnih1	A	G	14: 47,017,648 (GRCm39)	F78S	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcun1d4	T	C	5: 73,677,491 (GRCm39)	F57L	possibly damaging	Het
Dgkz	A	G	2: 91,776,132 (GRCm39)	S44P	possibly damaging	Het
Dhps	A	G	8: 85,799,964 (GRCm39)	D138G	probably damaging	Het
Elp2	A	G	18: 24,750,509 (GRCm39)	E282G	probably damaging	Het
Exoc6b	T	C	6: 84,837,173 (GRCm39)	Y342C	probably damaging	Het
Fasn	A	C	11: 120,704,339 (GRCm39)	S1386A	probably benign	Het
Foxj3	A	T	4: 119,430,959 (GRCm39)	N111Y	probably damaging	Het
Gm5431	T	C	11: 48,779,440 (GRCm39)	E772G	probably damaging	Het
Gpbar1	A	G	1: 74,318,216 (GRCm39)	N153S	probably damaging	Het
Hspg2	T	C	4: 137,270,077 (GRCm39)	I2345T	possibly damaging	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Lce1f	A	G	3: 92,626,652 (GRCm39)	S2P	unknown	Het
Lrrk2	A	G	15: 91,659,177 (GRCm39)	D1863G	probably benign	Het
Lurap1	T	C	4: 116,001,585 (GRCm39)	E36G	possibly damaging	Het
Lysmd3	A	G	13: 81,817,380 (GRCm39)	E119G	probably damaging	Het
Map9	G	A	3: 82,270,642 (GRCm39)	V69I	probably benign	Het
Mfsd4b2	A	C	10: 39,799,791 (GRCm39)	F37C	possibly damaging	Het
Moxd1	A	T	10: 24,099,581 (GRCm39)	H27L	possibly damaging	Het
Myo15a	A	T	11: 60,379,722 (GRCm39)	K1476N	probably damaging	Het
Mzf1	A	G	7: 12,777,985 (GRCm39)	I552T	probably benign	Het
Nfatc2	A	G	2: 168,322,169 (GRCm39)	V910A	probably benign	Het
Or52n2	C	T	7: 104,542,436 (GRCm39)	R133Q	possibly damaging	Het
Prss2	T	C	6: 41,500,851 (GRCm39)	V88A	probably benign	Het
Rhbdf1	A	G	11: 32,159,901 (GRCm39)		probably null	Het
Slc10a4	A	T	5: 73,169,677 (GRCm39)	Q434L	probably damaging	Het
Slc4a3	A	G	1: 75,526,484 (GRCm39)	T2A	probably benign	Het
Sqor	A	G	2: 122,651,320 (GRCm39)	*194W	probably null	Het
Tagap1	A	G	17: 7,224,420 (GRCm39)	V92A	probably benign	Het
Tiam2	A	G	17: 3,465,231 (GRCm39)	Y320C	probably damaging	Het
Toporsl	T	C	4: 52,611,469 (GRCm39)	I454T	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ubap1l	T	C	9: 65,276,570 (GRCm39)	V24A	probably benign	Het
Unc13c	A	T	9: 73,466,238 (GRCm39)	S1810T	probably benign	Het
Vmn1r56	A	T	7: 5,199,122 (GRCm39)	I165K	probably benign	Het
Wnt8b	A	G	19: 44,499,757 (GRCm39)	T169A	possibly damaging	Het
Wrap73	T	C	4: 154,239,099 (GRCm39)		probably null	Het
Wwc2	A	G	8: 48,317,096 (GRCm39)	I703T	unknown	Het
Zfp354a	T	A	11: 50,961,432 (GRCm39)	C546S	probably damaging	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
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
R8151:Stx16	UTSW	2	173,935,284 (GRCm39)	missense	possibly damaging	0.70
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'- TTAATGCAAGCAAGGCTCCCC -3'
(R):5'- ATGCTGTAGGCCTCTGTGAC -3'

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

Posted On

2017-01-03