Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Snph'

186644

Institutional Source

Beutler Lab

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

MMRRC Submission

039696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151432469-151474513 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 151436398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 108 (Q108*)

Ref Sequence

ENSEMBL: ENSMUSP00000105503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028950] [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936]

AlphaFold

Q80U23

Predicted Effect

probably benign
Transcript: ENSMUST00000028950

SMART Domains

Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDZ	117	188	2.13e-9	SMART
PDZ	201	267	1.99e-9	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000028951
AA Change: Q177*

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: Q177*

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Syntaphilin	50	367	9.3e-141	PFAM
low complexity region	436	449	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000094456
AA Change: Q144*

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: Q144*

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	17	334	7.7e-141	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109875
AA Change: Q177*

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: Q177*

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Syntaphilin	51	366	1.7e-145	PFAM
low complexity region	436	449	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109877
AA Change: Q108*

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: Q108*

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	2	298	3.2e-125	PFAM
low complexity region	367	380	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137936

SMART Domains

Protein: ENSMUSP00000123255
Gene: ENSMUSG00000027457

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	17	87	4.6e-39	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice with disruptions in this gene are viable, fertile, and morphologically normal. However, they do display subtile deficiencies in coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,870,507 (GRCm39)	S3*	probably null	Het
Adgrv1	C	T	13: 81,624,750 (GRCm39)	V3740I	probably benign	Het
Aida	T	C	1: 183,079,127 (GRCm39)	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,876,528 (GRCm39)	D220V	probably damaging	Het
Antxr2	A	T	5: 98,123,209 (GRCm39)	C279*	probably null	Het
Ap3b1	T	C	13: 94,545,320 (GRCm39)	V191A	probably damaging	Het
Arhgef28	T	C	13: 98,117,884 (GRCm39)	K595E	probably benign	Het
Atp12a	A	G	14: 56,608,305 (GRCm39)	T98A	probably benign	Het
Cdcp1	A	T	9: 123,014,427 (GRCm39)	S116T	probably benign	Het
Chrm1	T	C	19: 8,656,582 (GRCm39)	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,393,303 (GRCm39)	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,656,258 (GRCm39)	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,509,107 (GRCm39)		probably null	Het
Dhx57	C	T	17: 80,553,157 (GRCm39)	V1257I	possibly damaging	Het
Disp1	A	T	1: 182,869,306 (GRCm39)	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,358,314 (GRCm39)	S462T	possibly damaging	Het
Dnaaf10	A	T	11: 17,177,183 (GRCm39)	E180D	probably benign	Het
Exoc3l	A	G	8: 106,019,692 (GRCm39)		probably null	Het
Fam210a	T	C	18: 68,409,167 (GRCm39)	T48A	probably benign	Het
Fbxw5	G	A	2: 25,393,286 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,434 (GRCm39)	C437R	probably damaging	Het
Gpc5	A	G	14: 115,636,691 (GRCm39)	K458R	probably benign	Het
Grik2	C	A	10: 49,120,439 (GRCm39)	G56*	probably null	Het
Igsf10	T	C	3: 59,238,706 (GRCm39)	T492A	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,562,645 (GRCm39)	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mapkbp1	A	T	2: 119,849,029 (GRCm39)	I682F	possibly damaging	Het
Mttp	A	T	3: 137,808,954 (GRCm39)	V718D	probably damaging	Het
Myt1l	T	A	12: 29,945,272 (GRCm39)	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771 (GRCm39)	G301D	probably benign	Het
Ncstn	T	A	1: 171,894,339 (GRCm39)	S677C	possibly damaging	Het
Nod1	C	A	6: 54,921,218 (GRCm39)		probably null	Het
Nos1ap	A	G	1: 170,342,206 (GRCm39)	V52A	possibly damaging	Het
Or51f2	T	G	7: 102,526,863 (GRCm39)	Y179D	probably damaging	Het
Or52z14	T	A	7: 103,252,882 (GRCm39)	L7*	probably null	Het
Or5b98	T	A	19: 12,931,055 (GRCm39)	I34N	probably damaging	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Phf13	T	C	4: 152,076,962 (GRCm39)	I77V	probably benign	Het
Pias2	A	G	18: 77,207,825 (GRCm39)	K230E	probably damaging	Het
Poli	A	G	18: 70,642,535 (GRCm39)	L469P	probably damaging	Het
Prag1	A	T	8: 36,607,177 (GRCm39)	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,203,442 (GRCm39)	H101Q	probably damaging	Het
Prss50	T	C	9: 110,691,557 (GRCm39)	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,714,924 (GRCm39)		probably benign	Het
Rcor2	T	C	19: 7,246,337 (GRCm39)	V4A	probably damaging	Het
Rnf180	T	C	13: 105,407,499 (GRCm39)	T17A	probably benign	Het
Robo3	A	T	9: 37,340,440 (GRCm39)	V179E	probably damaging	Het
Sacs	T	A	14: 61,446,458 (GRCm39)	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,199,432 (GRCm39)	H363L	probably damaging	Het
Setd1a	T	C	7: 127,395,841 (GRCm39)		probably benign	Het
Skp2	A	C	15: 9,125,201 (GRCm39)	V126G	probably benign	Het
Snrpa1	T	A	7: 65,719,246 (GRCm39)	V144E	probably damaging	Het
Tifab	T	C	13: 56,324,248 (GRCm39)	E65G	probably damaging	Het
Tmem201	A	T	4: 149,804,032 (GRCm39)	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,687,580 (GRCm39)	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,888,029 (GRCm39)	Q75R	probably null	Het
Tuba4a	T	C	1: 75,192,547 (GRCm39)	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,287,477 (GRCm39)	D230V	probably benign	Het
Ush2a	T	C	1: 188,648,261 (GRCm39)	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,201,724 (GRCm39)	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,693,693 (GRCm39)	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,817,988 (GRCm39)	M714L	probably benign	Het
Zbtb18	T	C	1: 177,275,329 (GRCm39)	S221P	probably benign	Het
Zfp418	A	G	7: 7,184,789 (GRCm39)	T251A	probably benign	Het
Zmynd15	A	G	11: 70,354,328 (GRCm39)	Y267C	probably damaging	Het

Other mutations in Snph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Snph	APN	2	151,436,093 (GRCm39)	nonsense	probably null
IGL02017:Snph	APN	2	151,442,902 (GRCm39)	missense	probably damaging	1.00
IGL02029:Snph	APN	2	151,435,527 (GRCm39)	missense	probably damaging	1.00
IGL02186:Snph	APN	2	151,436,263 (GRCm39)	missense	possibly damaging	0.67
R0621:Snph	UTSW	2	151,435,642 (GRCm39)	missense	probably damaging	1.00
R1311:Snph	UTSW	2	151,439,122 (GRCm39)	missense	probably damaging	1.00
R3753:Snph	UTSW	2	151,435,374 (GRCm39)	missense	probably benign	0.00
R3923:Snph	UTSW	2	151,435,431 (GRCm39)	missense	probably damaging	1.00
R4081:Snph	UTSW	2	151,435,722 (GRCm39)	missense	probably damaging	1.00
R4082:Snph	UTSW	2	151,435,722 (GRCm39)	missense	probably damaging	1.00
R4461:Snph	UTSW	2	151,435,767 (GRCm39)	missense	probably benign	0.00
R4462:Snph	UTSW	2	151,436,035 (GRCm39)	missense	probably damaging	1.00
R4463:Snph	UTSW	2	151,436,035 (GRCm39)	missense	probably damaging	1.00
R4619:Snph	UTSW	2	151,436,434 (GRCm39)	nonsense	probably null
R5042:Snph	UTSW	2	151,442,977 (GRCm39)	missense	possibly damaging	0.66
R5180:Snph	UTSW	2	151,442,307 (GRCm39)	missense	probably benign	0.05
R5184:Snph	UTSW	2	151,436,464 (GRCm39)	missense	probably damaging	1.00
R5925:Snph	UTSW	2	151,436,151 (GRCm39)	missense	probably damaging	1.00
R7169:Snph	UTSW	2	151,436,307 (GRCm39)	missense	probably damaging	1.00
R7243:Snph	UTSW	2	151,436,173 (GRCm39)	missense	probably damaging	0.99
R7417:Snph	UTSW	2	151,442,263 (GRCm39)	missense	probably damaging	1.00
R7607:Snph	UTSW	2	151,436,506 (GRCm39)	missense	probably damaging	1.00
R8517:Snph	UTSW	2	151,435,641 (GRCm39)	missense	probably damaging	0.99
R9325:Snph	UTSW	2	151,436,208 (GRCm39)	missense	probably damaging	0.99
R9617:Snph	UTSW	2	151,435,422 (GRCm39)	missense	probably damaging	1.00
R9671:Snph	UTSW	2	151,436,331 (GRCm39)	missense	probably damaging	1.00
X0024:Snph	UTSW	2	151,436,124 (GRCm39)	missense	probably benign	0.37
Z1177:Snph	UTSW	2	151,435,554 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TGTCATCGGCAGCCACATATCCAC -3'
(R):5'- TCTAGCTTTGAACCACCCCGTCAG -3'

Sequencing Primer
(F):5'- GAGACCCACCTGCTGACTC -3'
(R):5'- TCTCCACAGTAGTAGTGACAGGTC -3'

Posted On

2014-05-09